| Metadata | |
|---|---|
| ID | DOID:0110868 |
| Name | congenital stationary night blindness 1D |
| Definition | A congenital stationary night blindness characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves) that has_material_basis_in homozygous or compound heterozygous mutation in the SLC24A1 gene on chromosome 15q22. https://pubmed.ncbi.nlm.nih.gov/20850105/, https://www.ncbi.nlm.nih.gov/pubmed/20850105 |
| Xrefs | |
| Synonyms |
congenital stationary night blindness 1D autosomal recessive [EXACT] CSNB1D [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |