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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/193510
http://purl.bioontology.org/ontology/OMIM/193510
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|---|---|
| Preferred Name | WAARDENBURG SYNDROME, TYPE 2A |
| Synonyms |
WAARDENBURG SYNDROME, TYPE IIA
WS2A
WS2
WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
WAARDENBURG SYNDROME, TYPE IIA
WS2A
WS2
WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM
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|---|---|
| prefLabel | WAARDENBURG SYNDROME, TYPE 2A
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| Gene Symbol |
COMMAD
WS2A
MITF
CMM8
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| Scope Statement | Genetic heterogeneity of Waardenburg syndrome type 2 [MISCELLANEOUS]
Other variants of Waardenburg syndrome include Waardenburg syndrome type 1 (193500), Waardenburg syndrome type 3 (148820), and Waardenburg syndrome type 4 (277580) [MISCELLANEOUS]
Variable expressivity of each feature [MISCELLANEOUS]
Caused by mutation in the microphthalmia-associated transcription factor gene (MITF, 156845.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 3p14.1-p12.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 193510
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1860339
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| Moved from | 608890
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |