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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.
Synonyms:
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)