Waardenburg syndrome type 4B

Summary

DOID:0110954 - Waardenburg syndrome type 4B

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 homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13.

Synonyms: Waardenburg syndrome type IVB, Waardenburg syndrome with Hirschsprung disease type 4B, WS4B

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

: edn3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013201 - Waardenburg syndrome type 4B

MONDO:0013201 - Waardenburg syndrome type 4B

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)