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Summary Literature (0)
DOID:0110950 - Waardenburg syndrome type 2A

Disease Ontology Definition:A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13.

Synonyms: WS2A, Waardenburg syndrome type IIA,

Xenbase Genes : mitf

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008671 - Waardenburg syndrome type 2A


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)