Term Name: | ocular albinism 1 |
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Synonyms: | Albinism ocular 1, ocular albinism |
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. |
Ontology: | Human Disease [DOID:0050633] ( DOID:0050633 ) |