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Summary Literature (0)
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: WS4B, Waardenburg syndrome type IVB, Waardenburg syndrome with Hirschsprung disease type 4B,

Xenbase Genes : edn3

Mondo Disease Ontology (on Monarch Initiative):
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)