DOID:0090059 - enhanced S-cone syndrome
Disease Ontology Definition:A retinal disease characterized by autosomal recessive inheritance of early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in homozygous or compound heterozygous mutation in the NR2E3 gene on chromosome 15q23.
Xenbase Genes : nr2e3
|MONDO:0009989 - obsolete enhanced S-cone syndrome|
|OMIM:268100 - ENHANCED S-CONE SYNDROME; ESCS|
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): retinal disease (is_a)