Waardenburg syndrome type 4C

Summary

DOID:0110955 - Waardenburg syndrome type 4C

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 mutation in the SOX10 gene on chromosome 22q13.

Synonyms: WS4C, Waardenburg syndrome type IVC, Waardenburg syndrome with Hirschsprung disease type 4C,

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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013202 - Waardenburg syndrome type 4C

MONDO:0013202 - Waardenburg syndrome type 4C

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)