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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
 primary_id: RDO:9001760
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      PFAPA Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Genetic Skin Diseases 890
              Hereditary Autoinflammatory Diseases 107
                PFAPA Syndrome 1
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.