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DO Term : ocular albinism 1 [DOID:0050633] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 300500,
  • OMIM:300500,
  • ocular albinism,
  • Albinism ocular 1,
  • MESH:D016117
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents