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DO Term : Oguchi disease-1 [DOID:0110712] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37.
  • synonyms:
  • 258100,
  • CSNBO1,
  • congenital stationary night blindness Oguchi type 1,
  • OMIM:258100
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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