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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:PFAPA syndrome
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Accession:DOID:0081451 term browser browse the term
Definition:An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. (DO)
Synonyms:exact_synonym: Marshall syndrome with periodic fever;   PFAPA;   Periodic fever and aphthous stomatitis with pharyngitis and cervical adenitis;   Periodic fever and aphthous stomatitis with pharyngitis and cervical adenitis syndrome;   Periodic fever and aphthous stomatitis with pharyngitis and cervical lymphadenitis syndrome;   Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome;   periodic fever, aphthous stomatitis, pharyngitis and adenitis
 alt_id: DOID:9007906
 xref: GARD:5657;   MONDO:0018540;   ORDO:42642


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PFAPA syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO DNA:mutations:cds RGD PMID:21914217 RGD:13204855 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      immune system disease 4931
        autoimmune disease 2365
          PFAPA syndrome 1
Path 2
Term Annotations click to browse term
  disease 19047
    Pathological Conditions, Signs and Symptoms 13529
      Signs and Symptoms 11084
        Neurologic Manifestations 10336
          sensory system disease 7252
            skin disease 4199
              Genetic Skin Diseases 1887
                Hereditary Autoinflammatory Diseases 364
                  PFAPA syndrome 1
paths to the root