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Summary Literature (0)
DOID:0110953 - Waardenburg syndrome type 4A

Disease Ontology 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.

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

Xenbase Genes : sox10, ednrb, edn3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010192 - Waardenburg syndrome type 4A

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Waardenburg syndrome (is_a)