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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 Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO associated with hepatitis C;DNA:SNP: :3435C>T(human) RGD PMID:28453396 RGD:14700902 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		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 chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818 		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 chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Ifnl3 interferon, lambda 3 susceptibility
severity		 ISO associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) RGD PMID:24293567 PMID:24293567 RGD:11528546, RGD:11528546 NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096 		JBrowse link
G Tcn2 transcobalamin 2 ISO associated with Glomerulonephritis;protein:increased expression:serum: RGD PMID:3574578 RGD:11060121 NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:19860001 RGD:10450529 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		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 chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972 		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 chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548 		JBrowse link
Familial Mixed Cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc gamma receptor 3A treatment ISO DNA:polymorphism: :p.V176F (human) RGD PMID:21538321 RGD:11344956 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      immune system disease 4773
        hypersensitivity reaction disease 157
          hypersensitivity reaction type IV disease 134
            cryoglobulinemia 9
              Cryofibrinogenemia 0
              Familial Mixed Cryoglobulinemia 1
              Familial Primary Cryofibrinogenemia 0
              cryoglobulinemic vasculitis 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Hemic and Lymphatic Diseases 3853
        hematopoietic system disease 3344
          blood coagulation disease 959
            hemorrhagic disease 913
              vascular hemostatic disease 485
                cryoglobulinemia 9
                  Cryofibrinogenemia 0
                  Familial Mixed Cryoglobulinemia 1
                  Familial Primary Cryofibrinogenemia 0
                  cryoglobulinemic vasculitis 2
paths to the root