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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:0081022 term browser browse the term
Definition:A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24. (DO)
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;   KCNV2-RELATED CONDITION;   RCD3B
 primary_id: MESH:C563678
 alt_id: DOID:9007644;   OMIM:610356
 xref: GARD:10649;   NCI:C192089;   ORDO:209932


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES | ClinVar Annotator: match by term: Cone dystrophy with night blindness and supernormal rod responses KCNV2 related | ClinVar Annotator: match by term: KCNV2-related condition | ClinVar Annotator: match by term: Retinal cone dystrophy 3B | ClinVar Annotator: match by term: cone dystrophy with supernormal rod electroretinogram		 OMIM
CTD
ClinVar		 PMID:8333273 PMID:16909397 PMID:17896311 PMID:18235024 PMID:18400204 More... NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        fundus dystrophy 699
          retinitis pigmentosa 600
            retinal cone dystrophy 3B 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              retinal disease 1215
                retinal degeneration 846
                  fundus dystrophy 699
                    retinitis pigmentosa 600
                      retinal cone dystrophy 3B 1
paths to the root