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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 20
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Accession:DOID:0110353 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31. (DO)
Synonyms:exact_synonym: RP20
 broad_synonym: RPE65-RELATED DISORDER
 primary_id: MESH:C566718
 alt_id: OMIM:613794;   RDO:0014993


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retinitis pigmentosa 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPE65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 20 OMIM
ClinVar		 PMID:4492281 PMID:9326927 PMID:9326941 PMID:9501220 PMID:9536098 More... NCBI chr 6:144,206,078...144,229,471
Ensembl chr 6:144,206,078...144,229,467 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    sensory system disease 6506
      eye disease 3323
        fundus dystrophy 693
          retinitis pigmentosa 598
            retinitis pigmentosa 20 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        Neurologic Manifestations 9419
          sensory system disease 6506
            eye disease 3323
              eye degenerative disease 823
                retinal degeneration 822
                  fundus dystrophy 693
                    retinitis pigmentosa 598
                      retinitis pigmentosa 20 1
paths to the root