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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
 narrow_synonym: ACHM5;   ACHROMATOPSIA 5
 primary_id: MESH:C567758;   RDO:0015736
 alt_id: OMIM:613093
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM
ClinVar
PMID:9536098 PMID:10393054 PMID:17576681 PMID:18614542 PMID:19615668 PMID:25326637 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28704108 PMID:30080950 PMID:33546218 NCBI chr 1:256,822,099...256,885,879
Ensembl chr 1:256,822,334...256,877,810
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        Hereditary Eye Diseases 600
          retinitis pigmentosa 279
            Cone Dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          neurodegenerative disease 3342
            eye degenerative disease 480
              retinal degeneration 478
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    Cone Dystrophy 4 1
paths to the root