Pcwh Syndrome
Disease ID: disease_node_20080
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E75.2, MIM:609136, ORDO:163746 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | Neurologic Waardenburg-Shah syndrome, PCWH, Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease, Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome |
| Doid Label | PCWH syndrome |
| Doid Description | A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease, see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20080 |
| Doid Id | DOID_0090111 |
| Label | Pcwh Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)