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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by OMIM:268100
ClinVar Annotator: match by term: Enhanced s-cone syndrome
ClinVar Annotator: match by term: NR2E3-Related Disorders
OMIM
ClinVar
PMID:10655056 PMID:11071390 PMID:11773633 PMID:12963616 PMID:15453866 PMID:15459973 PMID:15689355 PMID:16024868 PMID:17438525 PMID:17564971 PMID:17601449 PMID:18294254 PMID:18436841 PMID:18835469 PMID:19006237 PMID:19139342 PMID:19273793 PMID:19718767 PMID:19823680 PMID:19898638 PMID:19933183 PMID:21217109 PMID:21364904 PMID:23039133 PMID:23591405 PMID:23989059 PMID:24033266 PMID:24069298 PMID:24265693 PMID:24339724 PMID:24474277 PMID:25079116 PMID:25097241 PMID:25703721 PMID:25741868 PMID:25999674 PMID:26229699 PMID:26355662 PMID:26667666 PMID:26894784 PMID:27013732 PMID:27032803 PMID:27874104 PMID:28041643 PMID:28300834 PMID:28418496 PMID:28492532 PMID:28559085 PMID:28944237 PMID:30054919 PMID:30311386 PMID:30324420 PMID:30718709 NCBI chr 8:64,797,518...64,801,587
Ensembl chr 8:64,797,518...64,800,467
JBrowse link
G Nrl neural retina leucine zipper ISO
ISS
ClinVar Annotator: match by term: Enhanced s-cone syndrome
OMIM:268100
ClinVar
MouseDO
PMID:27732723 NCBI chr15:34,197,115...34,201,408
Ensembl chr15:34,197,193...34,198,921
JBrowse link
G Prph2 peripherin 2 ISO RGD PMID:23650562 RGD:8554862 NCBI chr 9:16,085,933...16,386,176 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      enhanced S-cone syndrome 3
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal recessive disease 2602
                enhanced S-cone syndrome 3
paths to the root