| Metadata | |
|---|---|
| ID | DOID:0110712 |
| Name | Oguchi disease-1 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/15234147, https://www.ncbi.nlm.nih.gov/pubmed/7670478 |
| Xrefs | |
| Synonyms |
congenital stationary night blindness Oguchi type 1 [EXACT] CSNBO1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |