| Term Name: | enhanced S-cone syndrome 2 |
|---|---|
| Synonyms: | |
| 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. |
| Ontology: | Human Disease [DOID:0061232] ( DOID:0061232 ) |