| Metadata | |
|---|---|
| ID | DOID:0050633 |
| Name | ocular albinism 1 |
| Definition | 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. https://ghr.nlm.nih.gov/condition/ocular-albinism |
| Xrefs | |
| Synonyms |
Albinism ocular 1 [EXACT] ocular albinism [EXACT] |
| Parent Relationships |
is_a eye disease |