OBO ID: DOID:0090100
Term Name: ocular albinism with sensorineural deafness Search Ontology:
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:
OTHER ocular albinism with sensorineural deafness PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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