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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:PAPA syndrome
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Accession:DOID:0080519 term browser browse the term
Definition:A syndrome that is characterised by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24. (DO)
Synonyms:exact_synonym: FRA;   PAPAS;   familial recurrent arthritis;   pyogenic arthritis, pyoderma gangrenosum, and acne;   pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne;   pyogenic sterile arthritis, pyoderma gangrenosum, and acne
 primary_id: MESH:C536253
 alt_id: OMIM:604416
 xref: ORDO:69126


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PAPA syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial recurrent arthritis | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum and acne		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11971877 PMID:14595024 PMID:15580218 PMID:16199547 More... NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      PAPA syndrome 2
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      musculoskeletal system disease 8217
        connective tissue disease 5710
          bone disease 4223
            bone inflammation disease 1481
              arthropathy 1460
                arthritis 1047
                  septic arthritis 12
                    PAPA syndrome 2
paths to the root