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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 chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
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G Il1rn interleukin 1 receptor antagonist susceptibility ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:16096327 RGD:11522758 NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      immune system disease 4034
        hypersensitivity reaction disease 132
          hypersensitivity reaction type IV disease 113
            Schnitzler syndrome 2
Path 2
Term Annotations click to browse term
  disease 16063
    disease of cellular proliferation 6683
      cancer 4843
        organ system cancer 4626
          immune system cancer 582
            lymphatic system cancer 582
              lymphoma 495
                non-Hodgkin lymphoma 419
                  B-cell lymphoma 309
                    mature B-cell neoplasm 171
                      plasma cell neoplasm 152
                        monoclonal gammopathy of uncertain significance 5
                          Schnitzler syndrome 2
paths to the root