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Waardenburg syndrome type 4A

Disease Summary
Associated Targets (3)
Tbio

2

Tclin

1


Mondo Description A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB.
Uniprot Description A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).
Disease Ontology Description 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 heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22.
Mondo Term and Equivalent IDs
MONDO:0010192:  Waardenburg syndrome type 4A