| Term Name: | congenital stationary night blindness 1D |
|---|---|
| Synonyms: | congenital stationary night blindness 1D autosomal recessive, CSNB1D |
| 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. |
| Ontology: | Human Disease [DOID:0110868] ( DOID:0110868 ) |