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ocular albinism with sensorineural deafness (DOID:0090100)
Alliance: disease page
Synonyms: autosomal recessive Waardenburg syndrome type 2 with ocular albinism; digenic Waardenburg syndrome/albinism; digenic Waardenburg syndrome/ocular albinism; WS2-OA
Alt IDs: ICD10CM:E70.3, ORDO:352740
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.

Disease References using Mouse Models (6)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/24/2023
MGI 6.22
The Jackson Laboratory