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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 9
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Accession:DOID:0110387 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the RP9 gene on chromosome 7p14. (DO)
Synonyms:exact_synonym: RP9
 primary_id: MESH:C566716
 alt_id: OMIM:180104


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retinitis pigmentosa 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp9 RP9, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Retinitis pigmentosa 9
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1479605 PMID:8025041 PMID:8513323 PMID:12032732 PMID:15474994 More... NCBI chr 8:20,955,447...21,005,225
Ensembl chr 8:20,941,362...21,005,175 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    sensory system disease 7035
      eye disease 3497
        fundus dystrophy 705
          retinitis pigmentosa 601
            retinitis pigmentosa 9 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        Neurologic Manifestations 10113
          sensory system disease 7035
            eye disease 3497
              eye degenerative disease 858
                retinal degeneration 856
                  fundus dystrophy 705
                    retinitis pigmentosa 601
                      retinitis pigmentosa 9 1
paths to the root