ONTOLOGY REPORT - ANNOTATIONS


Term:Vascular Malformations
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Accession:DOID:9003191 term browser browse the term
Definition:A spectrum of congenital, inherited, or acquired abnormalities in BLOOD VESSELS that can adversely affect the normal blood flow in ARTERIES or VEINS. Most are congenital defects such as abnormal communications between blood vessels (fistula), shunting of arterial blood directly into veins bypassing the CAPILLARIES (arteriovenous malformations), formation of large dilated blood blood-filled vessels (cavernous angioma), and swollen capillaries (capillary telangiectases). In rare cases, vascular malformations can result from trauma or diseases.
Synonyms:exact_synonym: Vascular Malformation
 primary_id: MESH:D054079;   RDO:0004910
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Vascular Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:13207411
G Yes1 YES proto-oncogene 1, Src family tyrosine kinase JBrowse link 9 121,802,471 121,918,906 RGD:11554173
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
arterial tortuosity syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 1 220,862,474 220,867,973 RGD:13592920
G Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 RGD:7240710
RGD:8554872
Arteriovenous Fistula term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:12859285
RGD:12880017
G Ackr1 atypical chemokine receptor 1 JBrowse link 13 91,827,310 91,828,875 RGD:9681736
G Angpt2 angiopoietin 2 JBrowse link 16 75,966,480 76,016,147 RGD:2314184
G Arrb1 arrestin, beta 1 JBrowse link 1 164,502,099 164,573,947 RGD:5509867
G Arrb2 arrestin, beta 2 JBrowse link 10 57,040,252 57,048,045 RGD:5509867
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8552771
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:13525010
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:8655590
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:1642040
RGD:13204800
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:1642040
RGD:13204800
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:2292146
G Timp4 TIMP metallopeptidase inhibitor 4 JBrowse link 4 147,156,948 147,163,467 RGD:1642040
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:8551823
RGD:8655590
arteriovenous malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link 7 142,769,942 142,787,336 RGD:1300250
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:11041184
RGD:11041564
G Glmn glomulin, FKBP associated protein JBrowse link 14 3,204,390 3,247,703 RGD:1598992
G Map2 microtubule-associated protein 2 JBrowse link 9 73,204,753 73,462,965 RGD:6483324
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:1582655
G Rasa1 RAS p21 protein activator 1 JBrowse link 2 13,617,021 13,696,531 RGD:1581296
RGD:11554173
G Tek TEK receptor tyrosine kinase JBrowse link 5 113,725,717 113,852,799 RGD:1578533
arteriovenous malformations of the brain term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link 7 142,769,942 142,787,336 RGD:13592920
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:8554872
G Cacna1h calcium voltage-gated channel subunit alpha1 H JBrowse link 10 14,730,932 14,789,201 RGD:8554872
G Cdh2 cadherin 2 JBrowse link 18 8,146,971 8,366,037 RGD:8554872
G Egfr epidermal growth factor receptor JBrowse link 14 99,919,485 100,104,136 RGD:8554872
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:11041171
RGD:8554872
RGD:13592920
RGD:11041564
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:8551824
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:8554872
G Il17rd interleukin 17 receptor D JBrowse link 16 2,670,471 2,737,271 RGD:8554872
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7240710
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8551824
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:8554872
RGD:7240710
G Lemd3 LEM domain containing 3 JBrowse link 7 62,976,671 63,045,860 RGD:8554872
G Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 JBrowse link 9 46,657,444 46,782,545 RGD:8554872
G Notch4 notch receptor 4 JBrowse link 20 4,329,794 4,353,868 RGD:6480671
RGD:13592920
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:8554872
G Pitpnm3 PITPNM family member 3 JBrowse link 10 58,618,679 58,722,679 RGD:8554872
G Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 JBrowse link 5 7,622,668 7,941,715 RGD:8554872
G Sars seryl-tRNA synthetase JBrowse link 2 211,219,743 211,235,475 RGD:8554872
G Scube2 signal peptide, CUB domain and EGF like domain containing 2 JBrowse link 1 174,428,056 174,495,356 RGD:8554872
G Syn3 synapsin III JBrowse link 7 23,403,896 23,808,602 RGD:8554872
G Timp3 TIMP metallopeptidase inhibitor 3 JBrowse link 7 23,543,125 23,594,170 RGD:8554872
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:1580567
G Zfyve16 zinc finger FYVE-type containing 16 JBrowse link 2 22,060,879 22,105,822 RGD:8554872
Capillary Malformation-Arteriovenous Malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnh cyclin H JBrowse link 2 13,593,100 13,613,910 RGD:8554872
G Rasa1 RAS p21 protein activator 1 JBrowse link 2 13,617,021 13,696,531 RGD:8554872
RGD:11554173
RGD:734495
G Stambp Stam binding protein JBrowse link 4 115,249,343 115,277,340 RGD:11554173
Capillary Malformation-Arteriovenous Malformation 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rasa1 RAS p21 protein activator 1 JBrowse link 2 13,617,021 13,696,531 RGD:7240710
Capillary Malformation-Arteriovenous Malformation 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ephb4 EPH receptor B4 JBrowse link 12 22,393,338 22,418,332 RGD:8554872
RGD:7240710
G Slc12a9 solute carrier family 12, member 9 JBrowse link 12 22,434,845 22,451,265 RGD:8554872
Cavernous Malformations of CNS and Retina term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
Central Nervous System Vascular Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:1600689
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:1581204
cerebral cavernous malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:11554173
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:8551824
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8551824
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:1358458
RGD:7240710
RGD:8554872
RGD:1598379
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:8554872
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11552573
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:12859036
G Serpini1 serpin family I member 1 JBrowse link 2 174,013,058 174,111,693 RGD:8554872
cerebral cavernous malformation 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
RGD:7240710
cerebral cavernous malformation 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:7240710
RGD:8554872
G Nacad NAC alpha domain containing JBrowse link 14 86,860,607 86,868,605 RGD:8554872
cerebral cavernous malformation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:7240710
RGD:8554872
CLAPO Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
CLOVES syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:7240710
RGD:8554872
RGD:13207409
Congenital Capillary Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnaq G protein subunit alpha q JBrowse link 1 233,382,778 233,622,584 RGD:8554872
RGD:7240710
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11039024
Familial Multiple Nevi Flammei term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnaq G protein subunit alpha q JBrowse link 1 233,382,778 233,622,584 RGD:8554872
hereditary hemorrhagic telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link 7 142,769,942 142,787,336 RGD:1300352
RGD:8554872
RGD:11554173
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:1601038
RGD:8554872
RGD:11035216
RGD:11554173
RGD:11041566
RGD:11041563
RGD:11041183
RGD:11041169
RGD:1300352
G Gdf2 growth differentiation factor 2 JBrowse link 16 10,267,510 10,293,545 RGD:11554173
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:11035218
RGD:8554872
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10450733
Hereditary Hemorrhagic Telangiectasia, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link 7 142,769,942 142,787,336 RGD:8554872
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:8554872
RGD:7240710
RGD:11041166
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:8554872
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11041166
Hereditary Hemorrhagic Telangiectasia, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link 7 142,769,942 142,787,336 RGD:7240710
RGD:8554872
RGD:11035216
RGD:11035214
RGD:11035213
RGD:10769364
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:8554872
Hereditary Hemorrhagic Telangiectasia, Type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf2 growth differentiation factor 2 JBrowse link 16 10,267,510 10,293,545 RGD:7240710
RGD:8554872
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:8554872
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:7240710
RGD:8554872
RGD:11062720
RGD:11070199
Microcephaly-Capillary Malformation Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stambp Stam binding protein JBrowse link 4 115,249,343 115,277,340 RGD:7240710
RGD:8554872
multiple cutaneous and mucosal venous malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tek TEK receptor tyrosine kinase JBrowse link 5 113,725,717 113,852,799 RGD:7240710
RGD:8554872
Pulmonary Atresia with Intact Ventricular Septum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
Pulmonary Atresia with Ventricular Septal Defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:8554872
Retinal Arteries, Tortuosity of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:7240710
RGD:8554872
scimitar syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd1 ankyrin repeat domain 1 JBrowse link 1 254,726,985 254,745,673 RGD:8554872
G Smad2 SMAD family member 2 JBrowse link 18 72,550,107 72,612,078 RGD:8554872
Vascular Malformation, Primary Intraosseous term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elmo2 engulfment and cell motility 2 JBrowse link 3 161,812,474 161,850,006 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      cardiovascular system disease 4065
        Cardiovascular Abnormalities 782
          Vascular Malformations 68
            Arterio-Arterial Fistula + 0
            CLOVES syndrome 1
            Central Nervous System Vascular Malformations + 32
            Congenital Capillary Malformations + 1
            Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 0
            Hemophilia A with Vascular Abnormality 0
            May-Thurner Syndrome 0
            Microcephaly-Capillary Malformation Syndrome 1
            Patent Ductus Venosus 0
            Prepapillary Vascular Loops 0
            Pulmonary Atresia + 2
            Retinal Arteries, Tortuosity of 1
            Single Umbilical Artery 0
            Splenoportal Vascular Anomalies 0
            Vascular Fistula + 14
            Vascular Malformation, Primary Intraosseous 1
            arterial tortuosity syndrome 4
            arteriovenous malformation + 46
            hereditary hemorrhagic telangiectasia + 7
            scimitar syndrome + 2
Path 2
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          Cardiovascular Abnormalities 782
            Vascular Malformations 68
              Arterio-Arterial Fistula + 0
              CLOVES syndrome 1
              Central Nervous System Vascular Malformations + 32
              Congenital Capillary Malformations + 1
              Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 0
              Hemophilia A with Vascular Abnormality 0
              May-Thurner Syndrome 0
              Microcephaly-Capillary Malformation Syndrome 1
              Patent Ductus Venosus 0
              Prepapillary Vascular Loops 0
              Pulmonary Atresia + 2
              Retinal Arteries, Tortuosity of 1
              Single Umbilical Artery 0
              Splenoportal Vascular Anomalies 0
              Vascular Fistula + 14
              Vascular Malformation, Primary Intraosseous 1
              arterial tortuosity syndrome 4
              arteriovenous malformation + 46
              hereditary hemorrhagic telangiectasia + 7
              scimitar syndrome + 2
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.