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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 condition;   NR2E3-related disorder;   NR2E3-related disorders
 xref: MESH:C564835;   MIM:268100;   MONDO:0100288


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:268100
ClinVar Annotator: match by term: Enhanced S-cone syndrome | ClinVar Annotator: match by term: Goldmann-Favre syndrome | ClinVar Annotator: match by term: NR2E3-related disorder		 OMIM
CTD
MouseDO
ClinVar		 PMID:3032442 PMID:9536098 PMID:10655056 PMID:11071390 PMID:11773633 More... NCBI chr 8:69,261,343...69,269,081
Ensembl chr 8:60,366,124...60,373,163 		JBrowse link
G Nrl neural retina leucine zipper ISS
ISO		 OMIM:268100
ClinVar Annotator: match by term: Enhanced S-cone syndrome		 MouseDO
ClinVar		 PMID:11694879 PMID:15591106 PMID:25741868 PMID:27732723 PMID:28492532 More... NCBI chr15:32,977,023...32,981,442
Ensembl chr15:29,008,104...29,009,832 		JBrowse link
G Prph2 peripherin 2 ISO RGD PMID:23650562 RGD:8554862 NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: Enhanced S-cone syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:88,274,497...88,309,734 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      enhanced S-cone syndrome 4
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        Neurologic Manifestations 10463
          sensory system disease 7383
            eye disease 3731
              eye degenerative disease 930
                retinal degeneration 928
                  enhanced S-cone syndrome 4
paths to the root