Waardenburg syndrome type 4A

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: sox10, ednrb, edn3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010192 - Waardenburg syndrome type 4A

MONDO:0010192 - Waardenburg syndrome type 4A

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

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

Parent(s): Waardenburg syndrome (is_a)