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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:An extremely rare condition manifested as monoclonal IMMUNOGLOBULIN M dysproteinemia without features of lymphoproliferative disease, but with chronic urticaria, fever of unknown origin, disabling bone pain, hyperostosis, and increased erythrocyte sedimentation rate.
Synonyms:primary_id: MESH:D019873;   RDO:0007297
 xref: 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 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO CTD Direct Evidence: therapeutic CTD PMID:16096327, PMID:16096327 RGD:11522758 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Schnitzler syndrome 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Immune & Inflammatory Diseases 3590
        immune system disease 2960
          lymphatic system disease 1101
            lymphatic system cancer 611
              lymphoma 531
                non-Hodgkin lymphoma 395
                  B-cell lymphoma 305
                    mature B-cell neoplasm 167
                      plasma cell neoplasm 152
                        monoclonal gammopathy of uncertain significance 4
                          Schnitzler syndrome 2
paths to the root