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Human Disease

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
Ontology
Human Disease   ( DOID:0050633 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models