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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:Waldenstroem's macroglobulinemia
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Accession:DOID:0060901 term browser browse the term
Definition:A lymphoplasmacytic lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. (DO)
Synonyms:exact_synonym: Familial Waldenstroms Macroglobulinaemia;   Waldenstrom Macroglobulinaemia;   Waldenstrom's Macroglobulinaemia;   Waldenstrom's macroglobulinemia;   Waldenstroms Macroglobulinaemia;   Waldenstroms macroglobulinemia;   familial Waldenstrom macroglobulinaemia;   familial Waldenstrom macroglobulinemia;   familial Waldenstrom's macroglobulinaemia;   lymphoplasmacytic lymphoma with IgM gammopathy
 related_synonym: WM1;   WM2;   Waldenstrom macroglobulinemia, somatic;   Waldenstrom macroglobulinemia, susceptibility to, 1;   Waldenstrom macroglobulinemia, susceptibility to, 2
 primary_id: MESH:D008258
 alt_id: OMIM:153600;   OMIM:610430
 xref: ICD10CM:C88.0;   ICD9CM:273.3;   NCI:C115212;   NCI:C80307;   ORDO:33226
For additional species annotation, visit the Alliance of Genome Resources.



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Waldenstroem's macroglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO DNA:mutation:cds:1013C>G(p.S338X)(human) RGD PMID:24711662 RGD:11352304 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa disease_progression
treatment
ISO DNA:polymorphism: :
DNA:SNP:exon:p.F158V (rs396991) (human)
RGD PMID:21564078 PMID:15659493 RGD:11040774, RGD:11352262 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Il10 interleukin 10 ISO DNA:SNPs: :multiple RGD PMID:19573080 RGD:11049165 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il6 interleukin 6 no_association ISO DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human)
DNA:SNPs: :multiple
RGD PMID:19573080 PMID:19573080 RGD:11049165, RGD:11049165 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:23355206 RGD:11530052 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Macroglobulinemia, waldenstrom, somatic
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:21179087 PMID:22931316 PMID:23215570 PMID:26619011 PMID:28492532 More... NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      primary immunodeficiency disease 2705
        lymphoproliferative syndrome 778
          Waldenstroem's macroglobulinemia 6
Path 2
Term Annotations click to browse term
  disease 17208
    disease of cellular proliferation 7037
      cancer 4992
        organ system cancer 4824
          immune system cancer 616
            lymphatic system cancer 616
              lymphoma 534
                non-Hodgkin lymphoma 399
                  B-cell lymphoma 306
                    mature B-cell neoplasm 171
                      plasma cell neoplasm 153
                        Waldenstroem's macroglobulinemia 6
paths to the root