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

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

: nr2e3

MIM:

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: Alliance, 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)