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Summary Literature (0)
DOID:0050633 - ocular albinism 1

Disease Ontology 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.

Synonyms: Albinism ocular 1, ocular albinism

Xenbase Genes : mitf, tyr, gpr143

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0017304 - ocular albinism


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): eye disease (is_a)