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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:retinitis pigmentosa 47
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Accession:DOID:0110369 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: RP47
 primary_id: OMIM:613758

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retinitis pigmentosa 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Retinitis pigmentosa 47 OMIM
ClinVar		 PMID:7670478 PMID:9452120 PMID:9501883 PMID:9536098 PMID:9565049 More... NCBI chrNW_004936525:3,932,118...3,965,651
Ensembl chrNW_004936525:3,931,933...3,964,834 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6279
      eye disease 3211
        Hereditary Eye Diseases 1040
          retinitis pigmentosa 568
            retinitis pigmentosa 47 1
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6279
            eye disease 3211
              retinal disease 1118
                retinal degeneration 782
                  fundus dystrophy 662
                    retinitis pigmentosa 568
                      retinitis pigmentosa 47 1
paths to the root