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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: MIM: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 ClinVar Annotator: match by term: Retinitis pigmentosa 31 | ClinVar Annotator: match by term: TOPORS-related condition OMIM
ClinVar		 PMID:16189705 PMID:17924349 PMID:18509552 PMID:19373681 PMID:22334370 More... NCBI chr12:47,702,638...47,714,309
Ensembl chr12:47,702,995...47,714,338 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15337
    sensory system disease 6811
      eye disease 3579
        Hereditary Eye Diseases 1089
          retinitis pigmentosa 587
            retinitis pigmentosa 31 1
Path 2
Term Annotations click to browse term
  disease 15337
    Pathological Conditions, Signs and Symptoms 11966
      Signs and Symptoms 10010
        Neurologic Manifestations 9705
          sensory system disease 6811
            eye disease 3579
              retinal disease 1327
                retinal degeneration 817
                  fundus dystrophy 686
                    retinitis pigmentosa 587
                      retinitis pigmentosa 31 1
paths to the root