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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 70
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Accession:DOID:0110392 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32. (DO)
Synonyms:exact_synonym: RP70
 primary_id: OMIM:615922
 alt_id: RDO:9001537
For additional species annotation, visit the Alliance of Genome Resources.



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retinitis pigmentosa 70 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf4 pre-mRNA processing factor 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 70 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24419317 PMID:25741868 PMID:28492532 NCBI chr 5:75,859,934...75,873,924
Ensembl chr 5:75,859,924...75,873,919
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    sensory system disease 6469
      eye disease 3172
        fundus dystrophy 385
          retinitis pigmentosa 310
            retinitis pigmentosa 70 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        sensory system disease 6469
          eye disease 3172
            retinal disease 865
              retinal degeneration 525
                fundus dystrophy 385
                  retinitis pigmentosa 310
                    retinitis pigmentosa 70 1
paths to the root