| Metadata | |
|---|---|
| ID | DOID:0061231 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061231 Copy |
| Name | enhanced S-cone syndrome 1 |
| Definition | A retinal disease that is characterized by increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones and suffer visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear receptor gene NR2E3 on chromosome 15q23. https://pubmed.ncbi.nlm.nih.gov/10655056/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |