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retinitis pigmentosa 11 - Ontology Report - Rat Genome Database

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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: PRPF31-RELATED CONDITION;   RP11
 primary_id: MESH:C563991
 alt_id: MIM:600138;   RDO:0013098

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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 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Retinitis pigmentosa 11
ClinVar Annotator: match by term: PRPF31-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 11
OMIM:600138
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:3123501 PMID:5764686 PMID:8004108 PMID:8025041 PMID:8808602 More... NCBI chr19:54,115,754...54,131,713
Ensembl chr19:54,115,410...54,131,719 		JBrowse link
G PRPF31-AS1 PRPF31 antisense RNA 1 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa 11
ClinVar Annotator: match by term: PRPF31-related condition 		ClinVar PMID:3123501 PMID:12923864 PMID:16199547 PMID:18317597 PMID:23950152 More... NCBI chr19:54,119,510...54,122,642 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151455
    sensory system disease 27372
      eye disease 10413
        fundus dystrophy 1170
          retinitis pigmentosa 904
            retinitis pigmentosa 11 2
Path 2
Term Annotations click to browse term
  disease 151455
    disease of anatomical entity 138485
      nervous system disease 75363
        Neurologic Manifestations 38616
          sensory system disease 27372
            eye disease 10413
              eye degenerative disease 1978
                retinal degeneration 1885
                  fundus dystrophy 1170
                    retinitis pigmentosa 904
                      retinitis pigmentosa 11 2
paths to the root