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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;   RDO:0001752
 xref: ORDO:69126
For additional species annotation, visit the Alliance of Genome Resources.



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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 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
OMIM
ClinVar
CTD
PMID:9536098 PMID:11971877 PMID:14595024 PMID:15580218 PMID:16527883 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 17208
    syndrome 8125
      PAPA syndrome 2
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      musculoskeletal system disease 6417
        connective tissue disease 4421
          bone disease 3108
            bone inflammation disease 963
              arthritis 935
                septic arthritis 12
                  PAPA syndrome 2
paths to the root