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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:Retinal Cone Dystrophy 3A
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Accession:DOID:9004469 term browser browse the term
Synonyms:exact_synonym: Cone Dystrophy with Night Blindness and Supernormal Rod Responses, PDE6H-Related;   RCD3A
 related_synonym: ACHM6;   achromatopsia 6
 primary_id: MESH:C566483
 alt_id: OMIM:610024;   RDO:0014825
For additional species annotation, visit the Alliance of Genome Resources.


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Retinal Cone Dystrophy 3A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Retinal cone dystrophy 3A
OMIM
ClinVar
PMID:15629837 PMID:22901948 PMID:25741868 PMID:27472364 NCBI chr 4:170,947,723...170,963,046
Ensembl chr 4:170,958,196...170,963,046
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    sensory system disease 5336
      eye disease 2649
        Hereditary Eye Diseases 600
          retinitis pigmentosa 279
            Retinal Cone Dystrophy 3A 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          neurodegenerative disease 3353
            eye degenerative disease 481
              retinal degeneration 479
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    Retinal Cone Dystrophy 3A 1
paths to the root