OBO ID: DOID:0050633
Term Name: ocular albinism 1 Search Ontology:
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:
OTHER ocular albinism 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GPR143 Ocular albinism, type I, Nettleship-Falls type 300500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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