Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


RGD uses the Human Disease Ontology (DO, 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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by OMIM:604416
ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum and acne
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial recurrent arthritis
PMID:11971877, PMID:14595024, PMID:15580218, PMID:16527883, PMID:19673875, PMID:19934105, PMID:20506269, PMID:22161697, PMID:22513199, PMID:25741868, PMID:25845478, PMID:26025129, PMID:27106250, PMID:27577878, PMID:28492532, PMID:30290665, PMID:30311386, PMID:31443670 NCBI chr 8:60,760,040...60,799,364
Ensembl chr 8:60,760,078...60,799,361
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      PAPA syndrome 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        connective tissue disease 4096
          bone disease 3526
            bone inflammation disease 943
              arthritis 916
                septic arthritis 11
                  PAPA syndrome 2
paths to the root


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