Search Ontology:
Human Disease
enhanced S-cone syndrome 2
- Term ID
- DOID:0061232
- 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. https://pubmed.ncbi.nlm.nih.gov/29385733/
- References
- Ontology
- Human Disease ( DOID:0061232 )
Other Pages
Genes Involved
Zebrafish Models