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Summary Literature (0)
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:

Xenbase Genes : nr2e3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009989 - obsolete enhanced S-cone syndrome

MIM:
MIM:268100 - ENHANCED S-CONE SYNDROME; ESCS

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)