DISEASES

Disease-gene associations mined from literature

Human genes for Oguchi disease-1

Oguchi disease-1 [DOID:0110712]

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:  Oguchi disease-1,  DOID:0110712,  Oguchi disease1,  CSNBO1,  congenital stationary night blindness Oguchi type 1