ocular albinism 1 (DOID:0050633)
Alliance: disease page
Synonyms: Albinism ocular 1; ocular albinism
Alt IDs: OMIM:300500, MESH:D016117
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.