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ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:0001752
 xref: ORDO:69126
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PAPA syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 JBrowse link 8 60,760,040 60,799,364 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      PAPA syndrome 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone inflammation disease 930
              arthritis 905
                septic arthritis 11
                  PAPA syndrome 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.