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Human Disease
Oguchi disease-2
- Term ID
- DOID:0110713
- Synonyms
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- congenital stationary night blindness Oguchi type 2
- CSNBO2
- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0110713 )
- is a type of
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- inverse disjoint_from
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