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| Term | Oguchi disease-1 | ID (Ontology) | DOID:0110712 (Human Disease) | |||||||||
| 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. | |||||||||||
| Also Known As | "congenital stationary night blindness Oguchi type 1" ; "CSNBO1" | |||||||||||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease____________ physical disorder | |__congenital stationary night blindness__| hereditary night blindness | |__congenital stationary night blindness__| Oguchi disease-1 4 rec. |
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congenital stationary night blindness autosomal recessive disease |
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External Crossreferences & Linkouts
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| MIM:258100 | |||