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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:Cone Dystrophy 4
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Accession:DOID:9008571 term browser browse the term
Synonyms:exact_synonym: COD4;   PDE6C-RELATED CONDITION
 narrow_synonym: ACHM5;   ACHROMATOPSIA 5
 primary_id: MESH:C567758
 alt_id: OMIM:613093


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Cone Dystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone dystrophy 4 | ClinVar Annotator: match by term: PDE6C-related condition OMIM
ClinVar
PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 PMID:18614542 More... NCBI chrNW_004936601:1,343,538...1,393,605
Ensembl chrNW_004936601:1,341,658...1,393,377
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6272
      eye disease 3199
        fundus dystrophy 662
          retinitis pigmentosa 571
            Cone Dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11257
      Signs and Symptoms 9333
        Neurologic Manifestations 9024
          sensory system disease 6272
            eye disease 3199
              eye degenerative disease 783
                retinal degeneration 782
                  fundus dystrophy 662
                    retinitis pigmentosa 571
                      Cone Dystrophy 4 1
paths to the root