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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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 OMIM:180104
ClinVar Annotator: match by term: Retinitis pigmentosa 9
OMIM
ClinVar
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      eye disease 2766
        fundus dystrophy 378
          retinitis pigmentosa 306
            retinitis pigmentosa 9 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            retinal disease 839
              retinal degeneration 509
                fundus dystrophy 378
                  retinitis pigmentosa 306
                    retinitis pigmentosa 9 1
paths to the root