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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:cryoglobulinemia
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Accession:DOID:2917 term browser browse the term
Definition:A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures. (DO)
Synonyms:exact_synonym: cryoglobulinemias;   cryoimmunoglobulinaemia
 primary_id: MESH:D003449
 xref: EFO:0005846;   GARD:6217;   ICD10CM:D89.1;   NCI:C26736
For additional species annotation, visit the Alliance of Genome Resources.

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cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 susceptibility ISO associated with hepatitis C;DNA:SNP: :3435C>T(human) RGD PMID:28453396 RGD:14700902 NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274 		JBrowse link
G CD86 CD86 molecule ISO associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) RGD PMID:23840845 RGD:11354974 NCBI chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO associated with hepatitis C; protein:increased expression:serum RGD PMID:18775023 RGD:27095893 NCBI chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130 		JBrowse link
G IFNL3 interferon lambda 3 severity ISO associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) RGD PMID:24293567 RGD:11528546 NCBI chr 6:33,843,140...33,845,444 JBrowse link
G TCN2 transcobalamin 2 ISO associated with Glomerulonephritis;protein:increased expression:serum: RGD PMID:3574578 RGD:11060121 NCBI chr19:13,489,849...13,511,360
Ensembl chr19:13,490,645...13,511,810 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum RGD PMID:19860001 RGD:10450529
G TSLP thymic stromal lymphopoietin ISO MouseDO NCBI chr23:14,419,820...14,423,331 JBrowse link
cryoglobulinemic vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AICDA activation induced cytidine deaminase ISO associated with Chronic Hepatitis C; mRNA:increased expression:B cell, CD19-positive (human) RGD PMID:26219420 RGD:30296664 NCBI chr11:8,426,920...8,438,331
Ensembl chr11:8,428,922...8,431,641 		JBrowse link
G TSLP thymic stromal lymphopoietin ISO associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) RGD PMID:25889007 RGD:38596329 NCBI chr23:14,419,820...14,423,331 JBrowse link
Familial Mixed Cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FCGR3A Fc fragment of IgG receptor IIIa treatment ISO DNA:polymorphism: :p.V176F (human) RGD PMID:21538321 RGD:11344956 NCBI chr20:2,466,492...2,475,579 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      immune system disease 4465
        hypersensitivity reaction disease 153
          hypersensitivity reaction type IV disease 131
            cryoglobulinemia 9
              Cryofibrinogenemia 0
              Familial Mixed Cryoglobulinemia 1
              Familial Primary Cryofibrinogenemia 0
              cryoglobulinemic vasculitis 2
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      Hemic and Lymphatic Diseases 4103
        hematopoietic system disease 3626
          blood coagulation disease 1398
            hemorrhagic disease 1352
              vascular hemostatic disease 473
                cryoglobulinemia 9
                  Cryofibrinogenemia 0
                  Familial Mixed Cryoglobulinemia 1
                  Familial Primary Cryofibrinogenemia 0
                  cryoglobulinemic vasculitis 2
paths to the root