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Metadata
ID DOID:0110954
Name Waardenburg syndrome type 4B
Definition A Waardenburg's 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

OMIM:613265

Synonyms

Waardenburg syndrome type IVB [EXACT]

Waardenburg syndrome with Hirschsprung disease type 4B [EXACT]

WS4B [EXACT]

Parent Relationships

is_a Waardenburg's syndrome

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