| Metadata | |
|---|---|
| ID | DOID:0061232 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061232 Copy |
| Name | enhanced S-cone syndrome 2 |
| Definition | A retinal disease that is characterized by an increased number of cones in the retina, primarily those expressing S-cone opsins that has_material_basis_in compound heterozygous and homozygous mutation in the NRL gene on chromosome 14q11. https://pubmed.ncbi.nlm.nih.gov/29385733/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |