Oguchi Disease-2
Disease ID: disease_node_20054
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| Dbxref | MIM:613411 |
|---|---|
| Subclassof | DOID_0050534, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CSNBO2, congenital stationary night blindness Oguchi type 2 |
| Doid Label | Oguchi disease-2 |
| 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 mutation in the GRK1 gene on chromosome 13q34. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20054 |
| Doid Id | DOID_0110713 |
| Label | Oguchi Disease-2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)