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Summary Literature (0)
DOID:0110955 - Waardenburg syndrome type 4C

Disease Ontology Definition:A Waardenburg's 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 : sox10

Mondo Disease Ontology (on Monarch Initiative):
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's syndrome (is_a)