ocular albinism 1

Term ID

DOID:0050633

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

References

• MESH:D016117
• OMIM:300500

Ontology

Human Disease   ( DOID:0050633 )