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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:Retinal Cone Dystrophy 3B
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Accession:DOID:9007644 term browser browse the term
Synonyms:exact_synonym: CDSRR;   CONE DYSTROPHY WITH SUPERNORMAL ROD ELECTRORETINOGRAM;   CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES;   Cone Dystrophy with Night Blindness and Supernormal Rod Responses, KCNV2-Related;   RCD3B
 primary_id: MESH:C563678;   RDO:0012875
 alt_id: OMIM:610356
For additional species annotation, visit the Alliance of Genome Resources.


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Retinal Cone Dystrophy 3B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by OMIM:610356
ClinVar Annotator: match by term: Retinal cone dystrophy 3B
ClinVar Annotator: match by term: CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES
ClinVar Annotator: match by term: cone dystrophy with supernormal rod electroretinogram
ClinVar Annotator: match by term: Cone dystrophy with night blindness and supernormal rod responses KCNV2 related
OMIM
ClinVar
PMID:8333273 PMID:16909397 PMID:17896311 PMID:18235024 PMID:18400204 PMID:21402906 PMID:21882291 PMID:21911584 PMID:23115240 PMID:23725738 PMID:23885164 PMID:25741868 PMID:28041643 PMID:28224992 PMID:28492532 PMID:30718709 PMID:33546218 NCBI chr 1:245,396,880...245,475,011
Ensembl chr 1:245,396,989...245,416,531
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    sensory system disease 5332
      eye disease 2643
        Hereditary Eye Diseases 600
          retinitis pigmentosa 279
            Retinal Cone Dystrophy 3B 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          neurodegenerative disease 3348
            eye degenerative disease 480
              retinal degeneration 478
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    Retinal Cone Dystrophy 3B 1
paths to the root