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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.



show annotations for term's descendants           Sort by:
 
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 More... NCBI chr 1:65,575,887...65,587,561
Ensembl chr 1:65,575,887...65,587,873
JBrowse link

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 11 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 11 1
paths to the root