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Human Disease

ocular albinism with sensorineural deafness

Term ID
DOID:0090100
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. (4)
References
  • ICD10CM:E70.3
  • ORDO:352740
Ontology
Human Disease   ( DOID:0090100 )
Relationships
is a type of
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Genes Involved
Zebrafish Models