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DO Term : ocular albinism with sensorineural deafness [DOID:0090100] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritance 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:
digenic Waardenburg syndrome/ocular albinism,
autosomal recessive Waardenburg syndrome type 2 with ocular albinism,
ORDO:352740,
WS2-OA,
ICD10CM:E70.3,
digenic Waardenburg syndrome/albinism

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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