Term Name: | ocular albinism with sensorineural deafness |
---|---|
Synonyms: | autosomal recessive Waardenburg syndrome type 2 with ocular albinism, digenic Waardenburg syndrome/albinism, digenic Waardenburg syndrome/ocular albinism, WS2-OA |
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. |
Ontology: | Human Disease [DOID:0090100] ( DOID:0090100 ) |