ONTOLOGY REPORT - ANNOTATIONS


Term:thrombophilia
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Accession:DOID:2452 term browser browse the term
Definition:A disorder of HEMOSTASIS in which there is a tendency for the occurrence of THROMBOSIS.
Synonyms:exact_synonym: THPH1;   THROMBOPHILIA DUE TO FACTOR 2 DEFECT;   THROMBOPHILIA DUE TO THROMBIN DEFECT;   hypercoagulabilities;   hypercoagulability;   hypercoagulability state;   thrombophilias;   venous thrombosis
 narrow_synonym: VENOUS THROMBOEMBOLISM THROMBOSIS, PROTECTION AGAINST
 primary_id: MESH:D019851
 alt_id: OMIM:188050;   RDO:0002619
 xref: OMIM:PS188050
For additional species annotation, visit the Alliance of Genome Resources.


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thrombophilia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:11040779
G C5 complement C5 JBrowse link 3
3
14,049,993
14,206,466
14,113,931
14,229,141
RGD:11040779
G Cd46 CD46 molecule JBrowse link 13 113,786,525 113,818,741 RGD:11352772
G F13a1 coagulation factor XIII A1 chain JBrowse link 17 28,504,650 28,680,015 RGD:7240710
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:7240710
RGD:8554872
RGD:11554173
RGD:7387320
G F3 coagulation factor III, tissue factor JBrowse link 2 225,310,686 225,322,281 RGD:11341696
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:8554872
G F8 coagulation factor VIII JBrowse link 18 367,862 399,242 RGD:11554173
G Fga fibrinogen alpha chain JBrowse link 2 181,997,562 182,013,726 RGD:1601167
RGD:11554173
G Habp2 hyaluronan binding protein 2 JBrowse link 1 277,068,715 277,104,567 RGD:7240710
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7240710
RGD:8554872
RGD:11554173
RGD:10449396
G Plg plasminogen JBrowse link 1 48,521,828 48,563,895 RGD:1601404
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:1578514
RGD:11099991
RGD:1581278
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:11041740
G Serpina10 serpin family A member 10 JBrowse link 6 127,500,014 127,508,470 RGD:1580104
RGD:11554173
G Serpind1 serpin family D member 1 JBrowse link 11 87,913,814 87,924,880 RGD:11554173
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:11554173
Acquired Protein C Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:11080962
Activated Protein C Resistance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:8554872
RGD:7240710
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:11099994
G Pros1 protein S JBrowse link 7 1,206,648 1,288,140 RGD:11554173
G Tfpi tissue factor pathway inhibitor JBrowse link 3 71,852,738 71,902,127 RGD:11554173
Acute Traumatic Coagulopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11554179
RGD:11554180
antithrombin III deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinc1 serpin family C member 1 JBrowse link 13 78,806,107 78,820,375 RGD:1599321
RGD:8554872
RGD:11554173
RGD:7240710
Congenital Thrombotic Disease, due to Protein C Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:11554173
disseminated intravascular coagulation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 JBrowse link 3 5,519,921 5,558,390 RGD:10449048
G Elane elastase, neutrophil expressed JBrowse link 7 12,638,320 12,640,168 RGD:10450544
RGD:10450545
G F13a1 coagulation factor XIII A1 chain JBrowse link 17 28,504,650 28,680,015 RGD:1581020
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:6893489
RGD:11554173
RGD:10449432
RGD:10449429
RGD:10449422
G F3 coagulation factor III, tissue factor JBrowse link 2 225,310,686 225,322,281 RGD:11060253
RGD:11554173
RGD:11060265
RGD:11341675
G F7 coagulation factor VII JBrowse link 16 81,824,610 81,834,923 RGD:11554173
G Fga fibrinogen alpha chain JBrowse link 2 181,997,562 182,013,726 RGD:10755508
RGD:10755509
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11049462
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:10450536
RGD:11062099
RGD:11060278
RGD:11049462
G Oxt oxytocin/neurophysin I prepropeptide JBrowse link 3 123,106,694 123,107,534 RGD:11554173
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11541052
RGD:11541087
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:11099993
RGD:11554173
RGD:11100014
G Serpinc1 serpin family C member 1 JBrowse link 13 78,806,107 78,820,375 RGD:11035251
RGD:11554173
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:11080963
RGD:10449432
G Tfpi tissue factor pathway inhibitor JBrowse link 3 71,852,738 71,902,127 RGD:11060128
RGD:11341674
RGD:11062067
RGD:11060265
RGD:11060253
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:5685034
RGD:11554173
RGD:11038686
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10450536
Hereditary Thrombophilia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:11554173
G Habp2 hyaluronan binding protein 2 JBrowse link 1 277,068,715 277,104,567 RGD:8554872
G Nrap nebulin-related anchoring protein JBrowse link 1 277,104,519 277,181,397 RGD:8554872
Hereditary Thrombophilia, due To Protein C Deficiency, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:8554872
RGD:7240710
Hereditary Thrombophilia, due to Protein C Deficiency, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:7240710
RGD:8554872
Hereditary Thrombophilia, due to Protein S Deficiency, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pros1 protein S JBrowse link 7 1,206,648 1,288,140 RGD:7240710
RGD:8554872
Hereditary Thrombophilia, due to Protein S Deficiency, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:8554872
G Pros1 protein S JBrowse link 7 1,206,648 1,288,140 RGD:7240710
RGD:8554872
G Stx19 syntaxin 19 JBrowse link 7 1,145,002 1,149,978 RGD:8554872
protein C deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:1578392
RGD:11554173
RGD:11099985
RGD:11099984
protein S deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pros1 protein S JBrowse link 7 1,206,648 1,288,140 RGD:1599209
RGD:8554872
RGD:11251679
RGD:11251677
RGD:11250419
RGD:11250418
RGD:11250415
RGD:1578677
G Tfpi tissue factor pathway inhibitor JBrowse link 3 71,852,738 71,902,127 RGD:11060129
RGD:11060140
Thrombophilia Due To Elevated Histidine-Rich Glycoprotein term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hrg histidine-rich glycoprotein JBrowse link 11 81,621,274 81,639,938 RGD:7240710
RGD:8554872
Thrombophilia due to Thrombomodulin Defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:7240710
RGD:8554872
Thrombophilia, Familial, due to Decreased Release of Tissue Plasminogen Activator term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:7240710
thrombotic thrombocytopenic purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 JBrowse link 3 5,519,921 5,558,390 RGD:7240710
RGD:8554872
RGD:11554173
RGD:10449043
RGD:1598736
RGD:10449037
RGD:10449028
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:11041104
G F3 coagulation factor III, tissue factor JBrowse link 2 225,310,686 225,322,281 RGD:11554173
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:11100014
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:11041754
G Tfpi tissue factor pathway inhibitor JBrowse link 3 71,852,738 71,902,127 RGD:11340214
RGD:11554173
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:11554173
Thrombotic Thrombocytopenic Purpura, Acquired term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 JBrowse link 3 5,519,921 5,558,390 RGD:10449039
RGD:10449097
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:11079195
X-Linked Thrombophilia, due to Factor IX Defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F9 coagulation factor IX JBrowse link X 143,097,507 143,141,791 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      hematopoietic system disease 1375
        blood coagulation disease 392
          thrombophilia 37
            Activated Protein C Resistance 4
            Antithrombin Deficiency Type 2 0
            Factor V Excess with Spontaneous Thrombosis 0
            Hereditary Thrombophilia 3
            Hyperprothrombinemia 0
            Thrombomodulin Anomalies, Familial 0
            Thrombophilia Due To Elevated Histidine-Rich Glycoprotein 1
            Thrombophilia due to Thrombomodulin Defect 1
            Thrombophilia, Familial, due to Decreased Release of Tissue Plasminogen Activator 1
            X-Linked Thrombophilia, due to Factor IX Defect 1
            antithrombin III deficiency 1
            disseminated intravascular coagulation + 17
            protein C deficiency + 2
            protein S deficiency + 4
            thrombotic thrombocytopenic purpura + 8
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      Hemic and Lymphatic Diseases 1591
        hematopoietic system disease 1375
          blood coagulation disease 392
            thrombophilia 37
              Activated Protein C Resistance 4
              Antithrombin Deficiency Type 2 0
              Factor V Excess with Spontaneous Thrombosis 0
              Hereditary Thrombophilia 3
              Hyperprothrombinemia 0
              Thrombomodulin Anomalies, Familial 0
              Thrombophilia Due To Elevated Histidine-Rich Glycoprotein 1
              Thrombophilia due to Thrombomodulin Defect 1
              Thrombophilia, Familial, due to Decreased Release of Tissue Plasminogen Activator 1
              X-Linked Thrombophilia, due to Factor IX Defect 1
              antithrombin III deficiency 1
              disseminated intravascular coagulation + 17
              protein C deficiency + 2
              protein S deficiency + 4
              thrombotic thrombocytopenic purpura + 8
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.