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 )