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RGD uses the Human Disease Ontology (DO, 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
For additional species annotation, visit the Alliance of Genome Resources.

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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:20301591 PMID:23776498 More... NCBI chrNW_004955507:129,678...179,586
Ensembl chrNW_004955507:129,678...179,305
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13526
    sensory system disease 5645
      eye disease 2643
        Hereditary Eye Diseases 700
          Achromatopsia 5 1
Path 2
Term Annotations click to browse term
  disease 13526
    disease of anatomical entity 13249
      nervous system disease 11298
        Neurologic Manifestations 5532
          Sensation Disorders 1028
            Vision Disorders 204
              blindness 143
                color blindness 9
                  achromatopsia 6
                    Achromatopsia 5 1
paths to the root