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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 16058
    syndrome 6996
      Schnitzler syndrome 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Immune & Inflammatory Diseases 3506
        immune system disease 2926
          lymphatic system disease 1094
            lymphatic system cancer 612
              lymphoma 533
                non-Hodgkin lymphoma 399
                  B-cell lymphoma 310
                    mature B-cell neoplasm 169
                      plasma cell neoplasm 153
                        monoclonal gammopathy of uncertain significance 4
                          Schnitzler syndrome 2
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.