Oguchi Disease-1
Disease ID: disease_node_20055
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| Dbxref | MIM:258100 |
|---|---|
| Subclassof | DOID_0050534, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CSNBO1, congenital stationary night blindness Oguchi type 1 |
| Doid Label | Oguchi disease-1 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20055 |
| Doid Id | DOID_0110712 |
| Label | Oguchi Disease-1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)