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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/609136
http://purl.bioontology.org/ontology/OMIM/609136
|
|---|---|
| Preferred Name | PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE |
| Synonyms |
WAARDENBURG-SHAH SYNDROME, NEUROLOGIC VARIANT
PCWH
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
WAARDENBURG-SHAH SYNDROME, NEUROLOGIC VARIANT
PCWH
|
|---|---|
| prefLabel | PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
|
| Gene Symbol |
SOX10
PCWH
WS4
WS4C
|
| Scope Statement | Phenotype combines features of Hirschsprung disease (142623), Charcot-Marie-Tooth disease type 1 (CMT1B, 118200), Waardenburg-Shah syndrome (277580), and central dysmyelinating leukodystrophy (312080) [MISCELLANEOUS]
Caused by mutation in the SRY-box-10 gene (SOX10, 602229.0006) [MOLECULAR BASIS]
Variable penetrance of these features [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 22q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 609136
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1836727
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |