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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 11
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Accession:DOID:0110408 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: RP11
 primary_id: MESH:C563991
 alt_id: OMIM:600138;   RDO:0013098
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by OMIM:600138
ClinVar Annotator: match by term: Retinitis pigmentosa 11
OMIM
ClinVar
PMID:5764686 PMID:8025041 PMID:8808602 PMID:9345108 PMID:11545739 PMID:12923864 PMID:16708387 PMID:17325180 PMID:17412961 PMID:19293337 PMID:19618371 PMID:25741868 PMID:26781568 NCBI chr 1:64,150,786...64,162,461
Ensembl chr 1:64,150,786...64,162,461
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    sensory system disease 5168
      eye disease 2582
        fundus dystrophy 332
          retinitis pigmentosa 267
            retinitis pigmentosa 11 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        sensory system disease 5168
          eye disease 2582
            retinal disease 776
              retinal degeneration 465
                fundus dystrophy 332
                  retinitis pigmentosa 267
                    retinitis pigmentosa 11 1
paths to the root