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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
 alt_id: RDO:0015737
 xref: NCI:C164226
For additional species annotation, visit the Alliance of Genome Resources.



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:23776498 PMID:25741868 More... NCBI chr 1:235,909,473...235,965,460
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 18156
    sensory system disease 6410
      eye disease 2936
        Hereditary Eye Diseases 758
          Achromatopsia 5 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        Neurologic Manifestations 6166
          Sensation Disorders 1185
            Vision Disorders 267
              blindness 202
                color blindness 10
                  achromatopsia 7
                    Achromatopsia 5 1
paths to the root