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Summary Literature (0)
DOID:0090100 - ocular albinism with sensorineural deafness

Disease Ontology Definition:An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates.

Synonyms: autosomal recessive Waardenburg syndrome type 2 with ocular albinism, digenic Waardenburg syndrome/albinism, digenic Waardenburg syndrome/ocular albinism, WS2-OA

Xenbase Genes : mitf, tyr

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018138 - obsolete ocular albinism with congenital sensorineural hearing loss

MIM:
MIM:103470 - MOVED TO 193510 AND 606952

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), digenic disease (is_a), genetic disease (is_a), ocular albinism 1 (is_a)