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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/148820
http://purl.bioontology.org/ontology/OMIM/148820
|
|---|---|
| Preferred Name | WAARDENBURG SYNDROME, TYPE 3 |
| Synonyms |
WAARDENBURG SYNDROME, TYPE III
KLEIN-WAARDENBURG SYNDROME
WS3
WAARDENBURG SYNDROME WITH UPPER LIMB ANOMALIES
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
WAARDENBURG SYNDROME, TYPE III
KLEIN-WAARDENBURG SYNDROME
WS3
WAARDENBURG SYNDROME WITH UPPER LIMB ANOMALIES
|
|---|---|
| prefLabel | WAARDENBURG SYNDROME, TYPE 3
|
| Gene Symbol |
PAX3
CDHS
WS3
WS1
HUP2
|
| Scope Statement | Both heterozygous and homozygous PAX3 mutations have been found [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Caused by mutation in the paired box gene 3 (PAX3, 606597.0009) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2q36.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 148820
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0079661
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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 |