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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 11
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Accession:DOID:0110408 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: RP11
 primary_id: MESH:C563991
 alt_id: OMIM:600138;   RDO:0013098


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    sensory system disease 6836
      eye disease 3212
        fundus dystrophy 659
          retinitis pigmentosa 582
            retinitis pigmentosa 11 1
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        Neurologic Manifestations 9941
          sensory system disease 6836
            eye disease 3212
              eye degenerative disease 807
                retinal degeneration 805
                  fundus dystrophy 659
                    retinitis pigmentosa 582
                      retinitis pigmentosa 11 1
paths to the root