ONTOLOGY REPORT - ANNOTATIONS


Term:arteriovenous malformation
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Accession:DOID:11294 term browser browse the term
Definition:Abnormal formation of blood vessels that shunt arterial blood directly into veins without passing through the CAPILLARIES. They usually are crooked, dilated, and with thick vessel walls. A common type is the congenital arteriovenous fistula. The lack of blood flow and oxygen in the capillaries can lead to tissue damage in the affected areas.
Synonyms:exact_synonym: arteriovenous hemangioma;   arteriovenous malformations;   cirsoid aneurysm;   racemose aneurysm;   racemose angioma;   racemose hemangioma
 primary_id: MESH:D001165
 alt_id: RDO:0004912
For additional species annotation, visit the Alliance of Genome Resources.


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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
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
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 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
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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      cardiovascular system disease 4064
        vascular disease 3043
          arteriovenous malformation 46
            Arteriovenous Fistula + 14
            CLAPO Syndrome 1
            Capillary Malformation-Arteriovenous Malformation + 5
            Microcephaly-Capillary Malformation Syndrome 1
            Spinal Arterial Venous Malformations with Cutaneous Hemangiomas 0
            arteriovenous malformations of the brain + 24
            multiple cutaneous and mucosal venous malformations 1
Path 2
Term Annotations click to browse term
  disease 14919
    disease of cellular proliferation 5587
      Neoplasms by Site 5035
        organ system benign neoplasm 863
          cardiovascular organ benign neoplasm 81
            hemangioma 77
              arteriovenous malformation 46
                Arteriovenous Fistula + 14
                CLAPO Syndrome 1
                Capillary Malformation-Arteriovenous Malformation + 5
                Microcephaly-Capillary Malformation Syndrome 1
                Spinal Arterial Venous Malformations with Cutaneous Hemangiomas 0
                arteriovenous malformations of the brain + 24
                multiple cutaneous and mucosal venous malformations 1
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.