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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 31
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Accession:DOID:0110391 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21. (DO)
Synonyms:exact_synonym: RP31;   TOPORS-RELATED CONDITION
 primary_id: MESH:C563685;   RDO:0012878
 alt_id: OMIM:609923


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retinitis pigmentosa 31 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 31 | ClinVar Annotator: match by term: TOPORS-related condition		 OMIM
CTD
ClinVar		 PMID:16189705 PMID:17924349 PMID:18509552 PMID:19373681 PMID:22334370 More... NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      eye disease 3491
        Hereditary Eye Diseases 1101
          retinitis pigmentosa 601
            retinitis pigmentosa 31 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            eye disease 3491
              retinal disease 1221
                retinal degeneration 851
                  fundus dystrophy 703
                    retinitis pigmentosa 601
                      retinitis pigmentosa 31 1
paths to the root