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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 chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:16096327 PMID:16096327 RGD:11522758 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      immune system disease 5094
        hypersensitivity reaction disease 167
          hypersensitivity reaction type IV disease 144
            Schnitzler syndrome 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of cellular proliferation 7905
      cancer 5732
        organ system cancer 5479
          immune system cancer 664
            lymphatic system cancer 664
              lymphoma 580
                non-Hodgkin lymphoma 488
                  B-cell lymphoma 344
                    mature B-cell neoplasm 196
                      plasma cell neoplasm 174
                        monoclonal gammopathy of uncertain significance 5
                          Schnitzler syndrome 2
paths to the root