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Oguchi disease-2
Summary
- Synonym
-
- CSNBO2
- congenital stationary night blindness Oguchi type 2
- 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 mutation in the GRK1 gene on chromosome 13q34.
- Super Class
- autosomal recessive disease congenital stationary night blindness
External Links
- Disease Ontology
- DOID:0110713
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
