Albinism, Ocular
Disease ID: disease_node_8622
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| Dbxref | MESH:D016117, MIM:300500 |
|---|---|
| Subclassof | DOID_5614 |
| Data Source | DOID, MESH |
| Synonyms | Albinism ocular 1, ocular albinism |
| Mesh Id | D016117 |
| Mesh Label | Albinism, Ocular |
| Mesh Subclassof | D000417 |
| Doid Label | ocular albinism 1 |
| Doid Description | An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. |
| Disease Node Id | disease_node_8622 |
| Doid Id | DOID_0050633 |
| Label | Albinism, Ocular |
- Incoming r'ship
SUBCLASS_OFto/from Ocular Albinism With Sensorineural Deafness(ID:disease_node_19184) (Disease)