| Metadata | |
|---|---|
| ID | DOID:0090059 |
| Name | enhanced S-cone syndrome |
| Definition | A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23. https://www.ncbi.nlm.nih.gov/pubmed/30900587, https://www.omim.org/entry/268100 |
| Xrefs | |
| Parent Relationships |
is_a retinal disease |