ONTOLOGY REPORT - ANNOTATIONS


Term:enhanced S-cone syndrome
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Accession:DOID:0090059 term browser browse the term
Definition:A retinal disease characterized by autosomal recessive inheritance of early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in homozygous or compound heterozygous mutation in the NR2E3 gene 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;   RDO:0013662
 alt_id: OMIM:268100
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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

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Path 1
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  disease 14875
    syndrome 4220
      enhanced S-cone syndrome 3
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye disease 1985
              retinal disease 719
                retinal degeneration 410
                  enhanced S-cone syndrome 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.