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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: WS2-OA, autosomal recessive Waardenburg syndrome type 2 with ocular albinism, digenic Waardenburg syndrome/albinism, digenic Waardenburg syndrome/ocular albinism,
Xenbase Genes : mitf, tyr
MONDO:0018138 - ocular albinism with congenital sensorineural hearing loss |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee