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DOID:0110712 - Oguchi disease-1
Disease Ontology Definition: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: congenital stationary night blindness Oguchi type 1, CSNBO1
Xenbase Genes
:
sag,
grk1
| MONDO:0009775 - Oguchi disease-1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
congenital stationary night blindness (is_a),
hereditary night blindness (is_a)