Term Name: ocular albinism 1
Synonyms: Albinism ocular 1, ocular albinism
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.
Ontology: Human Disease [DOID:0050633]   ( DOID:0050633 )

Relationships
is a type of: eye disease
has subtype: ocular albinism with sensorineural deafness