| 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 inheritance 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 | |
| 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 |