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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 6
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Accession:DOID:0110413 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2. (DO)
Synonyms:exact_synonym: RP6;   Retinitis Pigmentosa, X-Linked Recessive, 6
 primary_id: MESH:C564065
 alt_id: OMIM:312612



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retinitis pigmentosa 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 6 ClinVar PMID:25741868 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
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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
        fundus dystrophy 700
          retinitis pigmentosa 604
            retinitis pigmentosa 6 1
Path 2
Term Annotations click to browse term
  disease 21140
    disease of anatomical entity 18187
      nervous system disease 14017
        Neurologic Manifestations 9994
          sensory system disease 6891
            eye disease 3449
              eye degenerative disease 849
                retinal degeneration 847
                  fundus dystrophy 700
                    retinitis pigmentosa 604
                      retinitis pigmentosa 6 1
paths to the root