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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;   RDO:0014991
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:180104
ClinVar Annotator: match by term: Retinitis pigmentosa 9
OMIM
ClinVar
PMID:1479605 PMID:8025041 PMID:8513323 PMID:12032732 PMID:15474994 PMID:15541726 PMID:16671097 PMID:16799052 PMID:17110909 PMID:23647439 PMID:28492532 NCBI chr 8:23,450,111...23,482,939
Ensembl chr 8:23,450,111...23,482,939
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        fundus dystrophy 339
          retinitis pigmentosa 270
            retinitis pigmentosa 9 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          eye disease 2714
            retinal disease 786
              retinal degeneration 470
                fundus dystrophy 339
                  retinitis pigmentosa 270
                    retinitis pigmentosa 9 1
paths to the root