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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:Achromatopsia 5
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Accession:DOID:9007377 term browser browse the term
Synonyms:primary_id: MESH:C567759
 xref: NCI:C164226



show annotations for term's descendants           Sort by:
Achromatopsia 5 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: Achromatopsia 5 ClinVar PMID:16199547 PMID:19615668 PMID:19887631 PMID:21127010 PMID:23776498 More... NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    sensory system disease 6891
      eye disease 3449
        Hereditary Eye Diseases 1085
          Achromatopsia 5 1
Path 2
Term Annotations click to browse term
  disease 21140
    Pathological Conditions, Signs and Symptoms 13285
      Signs and Symptoms 10764
        Neurologic Manifestations 9994
          sensory system disease 6891
            eye disease 3449
              Vision Disorders 189
                blindness 118
                  color blindness 12
                    achromatopsia 8
                      Achromatopsia 5 1
paths to the root