"autosomal recessive Waardenburg syndrome type 2 with ocular albinism"@en . "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."^^ . . _:vb50942254 . "ICD10CM:E70.3"^^ . "disease_ontology"^^ . "ORDO:352740"^^ . . "digenic Waardenburg syndrome/albinism"@en . _:vb50942255 . "digenic Waardenburg syndrome/ocular albinism"@en . _:vb50942254 . . _:vb50942255 . "DOID:0090100"^^ . _:vb50942254 . "ocular albinism with sensorineural deafness"^^ . _:vb50942255 . _:vb50942254 . _:vb50942255 . "WS2-OA"@en . . _:vb50942254 . . _:vb50942255 .