Summary Literature (0)

DOID:0090100 - ocular albinism with sensorineural deafness

Disease Ontology Definition:A digenic disease characterized by ocular albinism, deafness and vestibular dysfunction that has_material_basis_in mutations in the MITF gene on chromosome 3p13 and at least one other gene. The second gene mutation has been reported to be in the gene TYR on chromosome 11q14.3 and in the gene TYRP1 on chromosome 9p23.

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

Echinobase Genes :


OMIM:

MIM:103470 - albinism, ocular, with sensorineural deafness

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee