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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:9007906 term browser browse the term
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, aphthous stomatitis, pharyngitis and adenitis


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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 21128
    syndrome 10833
      PFAPA Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Genetic Skin Diseases 1850
                Hereditary Autoinflammatory Diseases 344
                  PFAPA Syndrome 1
paths to the root