| Metadata | |
|---|---|
| ID | DOID:0110954 |
| Name | Waardenburg syndrome type 4B |
| 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 homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/8630502 |
| Xrefs | |
| Synonyms |
Waardenburg syndrome type IVB [EXACT] Waardenburg syndrome with Hirschsprung disease type 4B [EXACT] WS4B [EXACT] |
| Parent Relationships |
is_a Waardenburg syndrome |