| Metadata | |
|---|---|
| ID | DOID:0110953 |
| Name | Waardenburg syndrome type 4A |
| Definition | A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22. https://www.ncbi.nlm.nih.gov/pubmed/8001158 |
| Xrefs | |
| Synonyms |
Waardenburg syndrome type IVA [EXACT] Waardenburg syndrome with Hirschsprung disease type 4A [EXACT] WS4A [EXACT] |
| Parent Relationships |
is_a Waardenburg syndrome |