| Metadata | |
|---|---|
| ID | DOID:0110713 |
| Name | Oguchi disease-2 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/9020843, https://www.ncbi.nlm.nih.gov/pubmed/7670478 |
| Xrefs | |
| Synonyms |
congenital stationary night blindness Oguchi type 2 [EXACT] CSNBO2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |