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ONTOLOGY REPORT - ANNOTATIONS


Term:enhanced S-cone syndrome
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Accession:DOID:0090059 term browser browse the term
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. (DO)
Synonyms:exact_synonym: ESCS
 narrow_synonym: FAVRE HYALOIDEORETINAL DEGENERATION;   GOLDMANN-FAVRE SYNDROME;   RETINOSCHISIS WITH EARLY HEMERALOPIA
 broad_synonym: NR2E3-RELATED DISORDER;   NR2E3-RELATED DISORDERS
 primary_id: MESH:C564835
 alt_id: OMIM:268100;   RDO:0013662
For additional species annotation, visit the Alliance of Genome Resources.


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enhanced S-cone syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 JBrowse link 8 64,797,518 64,801,587 RGD:7240710
RGD:8554872
G Nrl neural retina leucine zipper JBrowse link 15 34,197,115 34,201,408 RGD:8554872
RGD:13592920
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:8554862

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      enhanced S-cone syndrome 3
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              retinal disease 715
                retinal degeneration 407
                  enhanced S-cone syndrome 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.