Term Name: Oguchi disease-1
Synonyms: congenital stationary night blindness Oguchi type 1, CSNBO1
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.
Ontology: Human Disease [DOID:0110712]   ( DOID:0110712 )

Relationships
is a type of: autosomal recessive disease congenital stationary night blindness
disjoint_from: Oguchi disease-2