Ocular Albinism With Sensorineural Deafness
Disease ID: disease_node_19184
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E70.3, ORDO:352740 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080578, DOID_0050633 |
| Data Source | DOID |
| Synonyms | WS2-OA, autosomal recessive Waardenburg syndrome type 2 with ocular albinism, digenic Waardenburg syndrome/albinism, digenic Waardenburg syndrome/ocular albinism |
| Doid Label | ocular albinism with sensorineural deafness |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147, GENO_0000930 |
| Disease Node Id | disease_node_19184 |
| Doid Id | DOID_0090100 |
| Label | Ocular Albinism With Sensorineural Deafness |
- Outgoing r'ship
SUBCLASS_OFto/from Digenic Disease(ID:disease_node_13627) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Albinism, Ocular(ID:disease_node_8622) (Disease)