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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:Schnitzler syndrome
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Accession:DOID:4371 term browser browse the term
Definition:A hypersensitivity reaction type IV disease that is characterized by chronic urticarial rash and monoclonal IgM gammopathy, has_symptom rash, intermittent fever, arthralgia, and lymphadenopathy. (DO)
Synonyms:primary_id: MESH:D019873
 xref: EFO:1001165;   GARD:12390
For additional species annotation, visit the Alliance of Genome Resources.


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Schnitzler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1A interleukin 1 alpha ISO RGD PMID:1831824 RGD:7794711 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility ISO CTD Direct Evidence: therapeutic RGD
CTD		 PMID:16096327 RGD:11522758 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 15198
      immune system disease 4350
        hypersensitivity reaction disease 149
          hypersensitivity reaction type IV disease 129
            Schnitzler syndrome 2
Path 2
Term Annotations click to browse term
  disease 15603
    disease of cellular proliferation 7354
      cancer 5369
        organ system cancer 5141
          immune system cancer 625
            lymphatic system cancer 625
              lymphoma 537
                non-Hodgkin lymphoma 457
                  B-cell lymphoma 336
                    mature B-cell neoplasm 188
                      plasma cell neoplasm 166
                        monoclonal gammopathy of uncertain significance 5
                          Schnitzler syndrome 2
paths to the root