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Disease Ontology Browser
enhanced S-cone syndrome 1 (DOID:0061231)
Alliance: disease page
Alt IDs: OMIM:268100
Definition: A retinal disease that is characterized by increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones and suffer visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear receptor gene NR2E3 on chromosome 15q23.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
01/28/2026
MGI 6.24 		The Jackson Laboratory