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

Disease Ontology Definition:A Waardenburg's 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,

Echinobase Genes :


OMIM:
MIM:193510 - waardenburg syndrome, type 2a; ws2a

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)