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ocular albinism

Disease Summary
Associated Targets (5)
Tbio

2

Tclin

1

Tchem

1

Tdark

1


Mondo Description Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0017304:  ocular albinism
MESH:D016117: 
Orphanet:284804: 
SCTID:26399002: