JSON

ocular albinism

^ http://purl.obolibrary.org/obo/DOID_0050633


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. [ url:https://ghr.nlm.nih.gov/condition/ocular-albinism ]

Term info

has obo namespace

disease_ontology

id

DOID:0050633

Term relations

Subclass of: