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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:Thrombocytopenic Purpura
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Accession:DOID:9005876 term browser browse the term
Definition:Any form of purpura in which the PLATELET COUNT is decreased. Many forms are thought to be caused by immunological mechanisms.
Synonyms:exact_synonym: Thrombocytopenic Purpuras;   Thrombopenic Purpura;   Thrombopenic Purpuras
 primary_id: MESH:D011696


show annotations for term's descendants           Sort by:
Thrombocytopenic Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp9 glycoprotein 9 platelet ISO RGD PMID:23103637 RGD:11040532 NCBI chr 6:87,753,115...87,756,768
Ensembl chr 6:87,755,054...87,756,750 		JBrowse link
G Itga2b integrin alpha 2b IDA RGD PMID:11493456 RGD:2316362 NCBI chr11:102,344,134...102,360,570
Ensembl chr11:102,344,123...102,360,948 		JBrowse link
G Itgb3 integrin beta 3 IMP
ISO		 associated with HIV Infections RGD PMID:11493456 PMID:8565280 RGD:2316362, RGD:10755471 NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302 		JBrowse link
G Vwf Von Willebrand factor ISO RGD PMID:14727254 RGD:1580644 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
autoimmune thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19260037 NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640 		JBrowse link
G Alb albumin ISO RGD PMID:6683982 RGD:11036083 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Cd40 CD40 antigen ISO protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Cd40lg CD40 ligand treatment ISO
IEP		 protein:increased expression:peripheral blood, T lymphocyte (human)
protein:decreased expression:serum (mouse)		 RGD PMID:17654056 PMID:22537155 PMID:18341638 PMID:16188945 RGD:11344977, RGD:11352267, RGD:11352237, RGD:11344980 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cd86 CD86 antigen treatment ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:19379594 PMID:20581660 RGD:11354966, RGD:11520785 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443 		JBrowse link
G Dnmt3a DNA methyltransferase 3A ISO mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443 		JBrowse link
G Dnmt3b DNA methyltransferase 3B susceptibility ISO mRNA:decreased expression:mononuclear cell
DNA:SNP:promoter: -579G>T(human)		 RGD PMID:18683034 PMID:23000068 RGD:9588662, RGD:9589094 NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum: RGD PMID:10776692 RGD:11049162 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fcgr2b Fc receptor, IgG, low affinity IIb treatment
disease_progression		 ISO
IMP
IDA		 DNA:SNP: :p.I232T (human) RGD PMID:21131591 PMID:21045192 PMID:22257295 PMID:15566359 PMID:19549396 RGD:11040933, RGD:11344955, RGD:11344931, RGD:11344928, RGD:11344927 NCBI chr 1:170,786,186...170,804,141
Ensembl chr 1:170,786,186...170,804,116 		JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III no_association
susceptibility
treatment		 IMP
ISO		 DNA:SNP:cds:p.R131H (human) RGD PMID:20699442 PMID:23249566 PMID:22123287 PMID:21131591 RGD:11040883, RGD:11040990, RGD:11040989, RGD:11040933 NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504 		JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV treatment
susceptibility		 ISO
IGI		 DNA:SNP:cds:p.V158F(human)
DNA:SNP:exon:p.F158V (rs396991) (human)		 RGD PMID:11380443 PMID:23484707 PMID:22123287 PMID:15479722 RGD:11040776, RGD:11352255, RGD:11040989, RGD:11344926 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330 		JBrowse link
G Gp1ba glycoprotein 1b, alpha polypeptide IMP RGD PMID:16861348 RGD:10450841 NCBI chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 treatment ISO DNA:polymorphisms:cds:HLA-DQB1*0401 (human) RGD PMID:10435723 RGD:11041758 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta treatment ISO DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human) RGD PMID:10435723 RGD:11041758 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Il10 interleukin 10 disease_progression ISO DNA:SNP:promoter:-627C>A (human)
DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human)		 RGD PMID:25051072 PMID:22677268 RGD:11041894, RGD:11046267 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Il4 interleukin 4 disease_progression ISO DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496 		JBrowse link
G Itgb3 integrin beta 3 ISO
IMP		 RGD PMID:10936026 PMID:24258817 RGD:10755473, RGD:10755475 NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302 		JBrowse link
G Mir130a microRNA 130a ISO RNA:decreased expression:PBMC RGD PMID:24801815 RGD:11073600 NCBI chr 2:84,571,459...84,571,522
Ensembl chr 2:84,571,459...84,571,522 		JBrowse link
G Mir409 microRNA 409 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr12:109,709,592...109,709,670
Ensembl chr12:109,709,592...109,709,670 		JBrowse link
G Plat plasminogen activator, tissue ISO protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) no_association ISO DNA: snp: cds: C1858T
DNA:snp:cds:c.1858C>T (rs2476601) (human)		 RGD PMID:21597364 PMID:27309885 RGD:6484673, RGD:11535019 NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune thrombocytopenia | ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura ClinVar PMID:32853638 PMID:33087723 NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO mRNA:increased expression: :
protein:decreased expression:plasma:		 RGD PMID:11886393 PMID:24763013 PMID:24801815 RGD:11073598, RGD:11073603, RGD:11073600 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
Drug-Induced Immune Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP-binding cassette, sub-family member 2 susceptibility ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human) RGD PMID:20943283 RGD:11080978 NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase treatment ISO associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human)
associated with Stomach Neoplasms		 RGD PMID:19473056 PMID:23064955 RGD:11098817, RGD:11251740 NCBI chr 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility
treatment		 ISO associated with Ovarian Neoplasms;DNA:deletion: : (human)
associated with diffuse large B-cell lymphoma; DNA:deletion:cds:		 RGD PMID:19786980 PMID:20303013 RGD:5688741, RGD:10450835 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 treatment ISO associated with diffuse large B-cell lymphoma; DNA:deletion:cds: RGD PMID:20303013 RGD:10450835 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Il1a interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung
associated with Ovarian Neoplasms		 RGD PMID:7666093 PMID:8151314 RGD:11051963, RGD:11051964 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 severity ISO
IMP		 RGD PMID:10942385 PMID:17234740 RGD:11541093, RGD:11541120 NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454 		JBrowse link
G Pf4 platelet factor 4 treatment ISO RGD PMID:31863655 RGD:329901923 NCBI chr 5:90,920,362...90,921,242
Ensembl chr 5:90,920,294...90,921,242 		JBrowse link
Heparin-induced Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr4 Fc receptor, IgG, low affinity IV susceptibility ISO DNA:SNP:cds:p.V158F(human) RGD PMID:15191947 RGD:11040991 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330 		JBrowse link
G Il10 interleukin 10 no_association ISO DNA:repeats, haplotype:promoter
DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human)		 RGD PMID:22239992 PMID:22239992 RGD:11049164, RGD:11049164 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
Posttransfusion Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin beta 3 ISO ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM ClinVar
OMIM		 PMID:1430225 PMID:9787162 PMID:14516468 PMID:21658138 PMID:25741868 More... NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302 		JBrowse link
thrombotic thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO
IMP		 ClinVar Annotator: match by term: ADAMTS13-related condition | ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura | ClinVar Annotator: match by term: Upshaw-Schulman syndrome
CTD Direct Evidence: marker/mechanism
Adult Onset Purpura, Thrombotic Thrombocytopenic;DNA:missense mutation:cds:p.R1060W (human)
DNA:mutations:multiple (human)
protein:decreased activity:plasma (human)		 OMIM
ClinVar
CTD
RGD		 PMID:1787257 PMID:6433703 PMID:7094941 PMID:9536098 PMID:11563771 More... RGD:10449043, RGD:1598736, RGD:10449037, RGD:10449028 NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:7529543 RGD:11041104 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799 		JBrowse link
G F3 coagulation factor III ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphisms:cds:HLA-DQB1*0301 (human) RGD PMID:19922436 RGD:11041754 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G Proc protein C ISO RGD PMID:10936861 RGD:11100014 NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623 		JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:7740478 PMID:7740478 RGD:11340214 NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119 		JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108 		JBrowse link
Thrombotic Thrombocytopenic Purpura, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 treatment ISO human protein in a rat model RGD PMID:9828246 PMID:26338302 RGD:10449039, RGD:10449097 NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640 		JBrowse link
G Vwf Von Willebrand factor treatment ISO RGD PMID:26863353 RGD:11079195 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      immune system disease 4461
        Thrombocytopenic Purpura 42
          Acquired Amegakaryocytic Thrombocytopenia 0
          Drug-Induced Immune Thrombocytopenia + 10
          Posttransfusion Purpura 1
          autoimmune thrombocytopenic purpura 27
          thrombotic thrombocytopenic purpura + 8
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      Hemic and Lymphatic Diseases 3775
        hematopoietic system disease 3272
          blood coagulation disease 943
            hemorrhagic disease 897
              blood platelet disease 363
                thrombocytopenia 280
                  Thrombotic Microangiopathies 95
                    Thrombocytopenic Purpura 42
                      Acquired Amegakaryocytic Thrombocytopenia 0
                      Drug-Induced Immune Thrombocytopenia + 10
                      Posttransfusion Purpura 1
                      autoimmune thrombocytopenic purpura 27
                      thrombotic thrombocytopenic purpura + 8
paths to the root