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Disease Ontology Browser
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.

Disease References using Mouse Models (8)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory