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retinitis pigmentosa 6 - Ontology Report - Rat Genome Database

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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: MIM:312612

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retinitis pigmentosa 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 6 ClinVar PMID:25741868 NCBI chrNW_004624762:17,135,870...17,199,693 JBrowse link
G G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 6 ClinVar PMID:25741868 NCBI chr 9:30,008,681...30,033,475 JBrowse link
G P RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 6 ClinVar PMID:25741868 NCBI chr  X:34,238,961...34,522,814
Ensembl chr  X:34,228,124...34,296,589 		JBrowse link
G S Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 6 ClinVar PMID:25741868 NCBI chrNW_004936502:5,163,164...5,212,940 JBrowse link
G D RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 6 ClinVar PMID:25741868 NCBI chr  X:33,056,371...33,105,036
Ensembl chr  X:32,745,020...33,330,841 		JBrowse link
G B RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 6 ClinVar PMID:25741868 NCBI chr  X:30,718,669...30,777,671 JBrowse link
G C Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 6 ClinVar PMID:25741868 NCBI chrNW_004955601:398,772...453,271 JBrowse link
G R Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 6 ClinVar PMID:25741868 NCBI chr  X:15,238,961...15,299,004
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
G M Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 6 ClinVar PMID:25741868 NCBI chr  X:10,024,455...10,083,034
Ensembl chr  X:9,939,860...10,083,159 		JBrowse link
G H RPGR retinitis pigmentosa GTPase regulator IAGP ClinVar Annotator: match by term: Retinitis pigmentosa 6 ClinVar PMID:25741868 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      eye disease 42489
        fundus dystrophy 8066
          retinitis pigmentosa 6267
            retinitis pigmentosa 6 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        Neurologic Manifestations 126178
          sensory system disease 89068
            eye disease 42489
              eye degenerative disease 10031
                retinal degeneration 9924
                  fundus dystrophy 8066
                    retinitis pigmentosa 6267
                      retinitis pigmentosa 6 10
paths to the root