Summary Literature (0)

DOID:0110953 - Waardenburg syndrome type 4A

Disease Ontology 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 heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22.

Synonyms: WS4A, Waardenburg syndrome type IVA, Waardenburg syndrome with Hirschsprung disease type 4A,

Echinobase Genes :


OMIM:

MIM:277580 - waardenburg syndrome, type 4a; ws4a

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee