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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 23
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Accession:DOID:0110412 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: RP23
 primary_id: OMIM:300424
 alt_id: RDO:0016049

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retinitis pigmentosa 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa 23 OMIM
ClinVar		 PMID:10892847 PMID:22619378 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chrNW_004936470:3,292,961...3,331,915
Ensembl chrNW_004936470:3,292,249...3,331,800 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6281
      eye disease 3213
        fundus dystrophy 662
          retinitis pigmentosa 568
            retinitis pigmentosa 23 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Neurologic Manifestations 9046
          sensory system disease 6281
            eye disease 3213
              eye degenerative disease 783
                retinal degeneration 782
                  fundus dystrophy 662
                    retinitis pigmentosa 568
                      retinitis pigmentosa 23 1
paths to the root