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Metadata
ID DOID:0090100
Name ocular albinism with sensorineural deafness
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.
https://www.omim.org/entry/103470, https://ghr.nlm.nih.gov/condition/ocular-albinism, https://www.ncbi.nlm.nih.gov/pubmed/29531335, https://www.ncbi.nlm.nih.gov/pubmed/28356565
Xrefs

ICD10CM:E70.3

ORDO:352740

Subsets

DO_rare_slim

Synonyms

autosomal recessive Waardenburg syndrome type 2 with ocular albinism [EXACT]

digenic Waardenburg syndrome/albinism [EXACT]

digenic Waardenburg syndrome/ocular albinism [EXACT]

WS2-OA [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a ocular albinism 1

is_a digenic disease

Subclass Logical Relationships

has material basis in some digenic inheritance

has material basis in some autosomal dominant inheritance

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