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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 25
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Accession:DOID:0110384 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12. (DO)
Synonyms:exact_synonym: RP25
 primary_id: MESH:C566425
 alt_id: OMIM:602772
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf3 PHD finger protein 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 25 ClinVar PMID:18976725 PMID:20237254 PMID:20333770 PMID:20537394 PMID:21069908 PMID:22363543 PMID:24474277 PMID:24938718 PMID:25097241 PMID:25133751 PMID:25356976 PMID:25366773 PMID:25741868 PMID:26261414 PMID:26667666 PMID:26787102 PMID:28041643 PMID:28492532 PMID:29550188 PMID:30718709 NCBI chr 9:37,073,514...37,144,027
Ensembl chr 9:37,073,514...37,144,015
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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 25 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 25 1
paths to the root