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Human Disease
Oguchi disease-1
- Term ID
- DOID:0110712
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0110712 )
- is a type of
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- disjoint_from
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