enhanced S-cone syndrome

Summary

DOID:0090059 - enhanced S-cone syndrome

Disease Ontology Definition:A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23.

Synonyms:

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: nr2e3

OMIM:

MIM:268100 - enhanced s-cone syndrome; escs goldmann-favre syndrome, included;; retinoschisis with early hemeralopia, included;; favre hyaloideoretinal degeneration, included

MIM:268100 - enhanced s-cone syndrome; escs goldmann-favre syndrome, included;; retinoschisis with early hemeralopia, included;; favre hyaloideoretinal degeneration, included

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), retinal disease (is_a)