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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cone dystrophy 4 | ClinVar Annotator: match by term: PDE6C-related condition		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 PMID:18614542 More... NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    sensory system disease 7035
      eye disease 3497
        fundus dystrophy 705
          retinitis pigmentosa 601
            Cone Dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 18970
    Pathological Conditions, Signs and Symptoms 13384
      Signs and Symptoms 10875
        Neurologic Manifestations 10113
          sensory system disease 7035
            eye disease 3497
              eye degenerative disease 858
                retinal degeneration 856
                  fundus dystrophy 705
                    retinitis pigmentosa 601
                      Cone Dystrophy 4 1
paths to the root