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 characterized by ocular albinism, deafness and vestibular dysfunction that has_material_basis_in mutations in the MITF gene on chromosome 3p13 and at least one other gene. The second gene mutation has been reported to be in the gene TYR on chromosome 11q14.3 and in the gene TYRP1 on chromosome 9p23.
References:
Ontology: Human Disease   (DOID:0090100)
Relationships
is a type of:
OTHER ocular albinism with sensorineural deafness PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MITF Waardenburg syndrome/ocular albinism, digenic 103470
TYR Waardenburg syndrome/albinism, digenic 103470
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None