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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: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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Vascular Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IMP DNA:missense mutation:exon 20:p.H1047R (mouse) RGD PMID:25958091 RGD:13207411 NCBI chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
G Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 5:32,611,171...32,687,066
Ensembl chr 5:32,611,171...32,687,057
JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 5:3,689,999...3,803,124
Ensembl chr 5:3,690,000...3,802,925
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:3,803,156...3,844,515
Ensembl chr 5:3,803,184...3,845,564
JBrowse link
arterial tortuosity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle, aorta ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr19:34,240,336...34,255,585
Ensembl chr19:34,241,090...34,255,590
JBrowse link
G Efemp2 epidermal growth factor-containing fibulin-like extracellular matrix protein 2 ISO DNA:missense mutation:CDS:p.D203A (human) RGD PMID:22943132 RGD:42722010 NCBI chr19:5,473,946...5,482,520
Ensembl chr19:5,473,954...5,482,517
JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr  X:74,223,461...74,249,854
Ensembl chr  X:74,223,461...74,249,820
JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit IEA OMIM:208050 MouseDO NCBI chr19:5,482,561...5,488,389
Ensembl chr19:5,482,345...5,488,402
JBrowse link
G Slc2a10 solute carrier family 2 (facilitated glucose transporter), member 10 ISO ClinVar Annotator: match by term: Arterial tortuosity syndrome
ClinVar Annotator: match by OMIM:208050
OMIM
ClinVar
PMID:9536098 PMID:12801113 PMID:14569121 PMID:16199547 PMID:16550171 More... NCBI chr 2:165,503,897...165,519,917
Ensembl chr 2:165,503,787...165,519,917
JBrowse link
Arteriovenous Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 treatment ISO protein:increased activity:heart left ventricle (rat) RGD PMID:22768235 PMID:8386093 RGD:12859285, RGD:12880017 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Ackr1 atypical chemokine receptor 1 (Duffy blood group) ISO RGD PMID:24429330 RGD:9681736 NCBI chr 1:173,331,886...173,333,503
Ensembl chr 1:173,331,886...173,333,750
JBrowse link
G Angpt2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr 8:18,690,263...18,741,562
Ensembl chr 8:18,690,263...18,741,562
JBrowse link
G Arrb1 arrestin, beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr 7:99,535,147...99,606,772
Ensembl chr 7:99,535,466...99,606,771
JBrowse link
G Arrb2 arrestin, beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr11:70,432,485...70,440,828
Ensembl chr11:70,432,635...70,440,828
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO in Long Evans rats;mRNA:increased expression:aorta RGD PMID:16428894 RGD:8552771 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Des desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chr 1:75,360,292...75,368,579
Ensembl chr 1:75,360,329...75,368,579
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO
IDA
protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO
IDA
RGD PMID:17398390 PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Timp4 tissue inhibitor of metalloproteinase 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr 6:115,244,444...115,252,205
Ensembl chr 6:115,241,892...115,252,205
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:brain cortex, brain dura mater: RGD PMID:24626343 PMID:10541235 RGD:8551823, RGD:8655590 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
arteriovenous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor, type II-like 1 IMP RGD PMID:11062473 RGD:1300250 NCBI chr15:101,128,522...101,145,336
Ensembl chr15:101,128,522...101,145,336
JBrowse link
G Eng endoglin susceptibility ISO
IMP
associated with Telangiectasia, Hereditary Hemorrhagic; RGD PMID:8728706 PMID:24520391 RGD:11041184, RGD:11041564 NCBI chr 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
JBrowse link
G Ephb4 Eph receptor B4 ISO ClinVar Annotator: match by term: Arteriovenous malformation ClinVar PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892 NCBI chr 5:137,350,109...137,374,522
Ensembl chr 5:137,350,109...137,378,669
JBrowse link
G Glmn glomulin, FKBP associated protein ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr 5:107,548,962...107,597,888
Ensembl chr 5:107,548,967...107,597,888
JBrowse link
G Map2 microtubule-associated protein 2 ISO protein:decreased expression:hippocampus RGD PMID:20873448 RGD:6483324 NCBI chr 1:66,175,202...66,442,583
Ensembl chr 1:66,175,273...66,442,583
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16720380 RGD:1582655 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14639529 PMID:15917201 RGD:1581296 NCBI chr13:85,214,699...85,289,486
Ensembl chr13:85,214,780...85,289,130
JBrowse link
G Tek TEK receptor tyrosine kinase susceptibility ISO DNA:missense mutation: :p.R849W RGD PMID:8980225 RGD:1578533 NCBI chr 4:94,739,086...94,874,976
Ensembl chr 4:94,739,289...94,874,976
JBrowse link
arteriovenous malformations of the brain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor, type II-like 1 IEA OMIM:108010 MouseDO NCBI chr15:101,128,522...101,145,336
Ensembl chr15:101,128,522...101,145,336
JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr13:81,095,068...81,633,391
Ensembl chr13:81,095,068...81,633,154
JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Cacna1h calcium channel, voltage-dependent, T type, alpha 1H subunit ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr17:25,374,285...25,436,334
Ensembl chr17:25,374,285...25,433,783
JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:16,588,877...16,809,246
Ensembl chr18:16,588,877...16,809,246
JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:16,752,203...16,913,907
Ensembl chr11:16,752,203...16,918,158
JBrowse link
G Eng endoglin disease_progression ISO
IEA
IMP
DNA:polymorphism: : 207G>A(human)
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
OMIM:108010
ClinVar
MouseDO
RGD
PMID:25741868 PMID:24876084 PMID:24520391 RGD:11041171, RGD:11041564 NCBI chr 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 5:147,561,604...147,726,438
Ensembl chr 5:147,561,604...147,726,011
JBrowse link
G Gli2 GLI-Kruppel family member GLI2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr 1:118,834,061...119,054,405
Ensembl chr 1:118,834,132...119,053,619
JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 NCBI chr14:27,038,964...27,107,286
Ensembl chr14:27,038,941...27,107,286
JBrowse link
G Il6 interleukin 6 ISO OMIM NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Kdr kinase insert domain protein receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
OMIM
ClinVar
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chr 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
JBrowse link
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:120,923,411...120,979,396
Ensembl chr10:120,923,413...120,979,332
JBrowse link
G Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 1:39,900,902...40,026,310
Ensembl chr 1:39,900,913...40,026,310
JBrowse link
G Notch4 notch 4 IMP
IEA
OMIM:108010 MouseDO
RGD
PMID:19546852 RGD:6480671 NCBI chr17:34,564,286...34,588,543
Ensembl chr17:34,564,268...34,588,503
JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:75,516,490...75,556,852
Ensembl chr 3:75,516,490...75,556,856
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:72,047,528...72,135,889
Ensembl chr11:72,047,528...72,135,778
JBrowse link
G Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 1:10,993,273...11,303,683
Ensembl chr 1:10,993,465...11,303,681
JBrowse link
G Sars seryl-aminoacyl-tRNA synthetase ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 3:108,424,864...108,445,259
Ensembl chr 3:108,424,865...108,445,209
JBrowse link
G Scube2 signal peptide, CUB domain, EGF-like 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:109,798,690...109,865,679
Ensembl chr 7:109,798,676...109,865,679
JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:86,048,746...86,498,926
Ensembl chr10:86,055,125...86,498,896
JBrowse link
G Timp3 tissue inhibitor of metalloproteinase 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:86,300,412...86,349,505
Ensembl chr10:86,300,372...86,349,506
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Zfyve16 zinc finger, FYVE domain containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr13:92,487,749...92,530,810
Ensembl chr13:92,487,108...92,530,868
JBrowse link
Capillary Malformation-Arteriovenous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation ClinVar PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 More... NCBI chr13:85,189,377...85,213,731
Ensembl chr13:85,189,408...85,223,469
JBrowse link
G Rasa1 RAS p21 protein activator 1 susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 More... RGD:734495 NCBI chr13:85,214,699...85,289,486
Ensembl chr13:85,214,780...85,289,130
JBrowse link
G Stambp STAM binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 6:83,543,206...83,575,826
Ensembl chr 6:83,543,211...83,572,729
JBrowse link
Capillary Malformation-Arteriovenous Malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 More... NCBI chr13:85,189,377...85,213,731
Ensembl chr13:85,189,408...85,223,469
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chr 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 OMIM
ClinVar
PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 More... NCBI chr13:85,214,699...85,289,486
Ensembl chr13:85,214,780...85,289,130
JBrowse link
Capillary Malformation-Arteriovenous Malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 Eph receptor B4 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2
ClinVar
OMIM
PMID:25741868 PMID:28687708 PMID:28730721 PMID:29444212 PMID:30578106 NCBI chr 5:137,350,109...137,374,522
Ensembl chr 5:137,350,109...137,378,669
JBrowse link
G Slc12a9 solute carrier family 12 (potassium/chloride transporters), member 9 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2
ClinVar PMID:25741868 PMID:28687708 NCBI chr 5:137,314,558...137,340,070
Ensembl chr 5:137,314,558...137,333,597
JBrowse link
Cavernous Malformations of CNS and Retina term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Cavernous malformations of CNS and retina ClinVar PMID:11831930 NCBI chr 5:3,803,156...3,844,515
Ensembl chr 5:3,803,184...3,845,564
JBrowse link
Central Nervous System Vascular Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 cerebral cavernous malformation 2 susceptibility ISO DNA:deletions: ; Cerebral cavernous malformations, OMIM:603284 RGD PMID:17160895 RGD:1600689 NCBI chr11:6,546,887...6,596,761
Ensembl chr11:6,546,887...6,596,744
JBrowse link
G Col4a1 collagen, type IV, alpha 1 IAGP RGD PMID:16598045 RGD:1581204 NCBI chr 8:11,198,423...11,312,889
Ensembl chr 8:11,198,423...11,312,826
JBrowse link
Central Nervous System Venous Angioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chr13:85,189,377...85,213,731
Ensembl chr13:85,189,408...85,223,469
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chr13:85,214,699...85,289,486
Ensembl chr13:85,214,780...85,289,130
JBrowse link
cerebral cavernous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A kinase (PRKA) anchor protein (yotiao) 9 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 5:3,927,736...4,080,204
Ensembl chr 5:3,928,054...4,081,310
JBrowse link
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 5:3,689,999...3,803,124
Ensembl chr 5:3,690,000...3,802,925
JBrowse link
G Ccm2 cerebral cavernous malformation 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD
ClinVar
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532 NCBI chr11:6,546,887...6,596,761
Ensembl chr11:6,546,887...6,596,744
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 5:4,080,674...4,104,697
Ensembl chr 5:4,081,145...4,104,746
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 5:147,561,604...147,726,438
Ensembl chr 5:147,561,604...147,726,011
JBrowse link
G Kdr kinase insert domain protein receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing susceptibility ISO
IEA
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:116860
ClinVar
CTD
RGD
MouseDO
PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More... RGD:1598379, RGD:1358458 NCBI chr 5:3,803,156...3,844,515
Ensembl chr 5:3,803,184...3,845,564
JBrowse link
G Lrrd1 leucine rich repeats and death domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 5:3,845,173...3,866,596
Ensembl chr 5:3,845,173...3,866,596
JBrowse link
G Notch3 notch 3 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr17:32,120,820...32,166,896
Ensembl chr17:32,120,820...32,166,852
JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 More... NCBI chr 3:75,516,490...75,556,852
Ensembl chr 3:75,516,490...75,556,856
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Serpini1 serine (or cysteine) peptidase inhibitor, clade I, member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 3:75,557,493...75,642,523
Ensembl chr 3:75,557,547...75,643,495
JBrowse link
cerebral cavernous malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 1 ClinVar
OMIM
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 More... NCBI chr 5:3,803,156...3,844,515
Ensembl chr 5:3,803,184...3,845,564
JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 cerebral cavernous malformation 2 ISO
IEA
ClinVar Annotator: match by term: Cerebral cavernous malformations 2
OMIM:603284
OMIM
ClinVar
MouseDO
PMID:2468908 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 More... NCBI chr11:6,546,887...6,596,761
Ensembl chr11:6,546,887...6,596,744
JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr11:6,597,814...6,606,059
Ensembl chr11:6,597,823...6,606,053
JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 ISO
IEA
ClinVar Annotator: match by term: Cerebral cavernous malformations 3 OMIM
ClinVar
MouseDO
PMID:9536098 PMID:15543491 PMID:17576681 PMID:18035376 PMID:18060436 More... NCBI chr 3:75,516,490...75,556,852
Ensembl chr 3:75,516,490...75,556,856
JBrowse link
G Serpini1 serine (or cysteine) peptidase inhibitor, clade I, member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436 PMID:20623299 PMID:28492532 NCBI chr 3:75,557,493...75,642,523
Ensembl chr 3:75,557,547...75,643,495
JBrowse link
CLAPO Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: LOPEZ-GUTIERREZ SYNDROME
ClinVar Annotator: match by term: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth
ClinVar
OMIM
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
CLOVES syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 guanine nucleotide binding protein, alpha 11 ISO ClinVar Annotator: match by term: CLOVE SYNDROME ClinVar PMID:25741868 PMID:27476652 NCBI chr10:81,528,724...81,545,162
Ensembl chr10:81,528,724...81,545,190
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO
IEA
ClinVar Annotator: match by term: CLOVE SYNDROME
ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES
ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
OMIM:612918
DNA: missense mutations: exon :p.H1047R, p.H1047L
OMIM
ClinVar
MouseDO
RGD
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... RGD:13207409 NCBI chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:20488708 RGD:11039024 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Cand2 cullin-associated and neddylation-dissociated 2 (putative) IEP RGD PMID:31426861 RGD:18899564 NCBI chr 6:115,774,557...115,805,555
Ensembl chr 6:115,774,538...115,805,557
JBrowse link
familial multiple nevi flammei term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 guanine nucleotide binding protein, alpha 11 ISO ClinVar Annotator: match by term: Capillary malformations, congenital ClinVar PMID:25741868 PMID:27476652 NCBI chr10:81,528,724...81,545,162
Ensembl chr10:81,528,724...81,545,190
JBrowse link
G Gnaq guanine nucleotide binding protein, alpha q polypeptide ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATIONS
ClinVar Annotator: match by term: Familial multiple nevi flammei
ClinVar
OMIM
PMID:23656586 PMID:25188413 PMID:25741868 NCBI chr19:16,132,684...16,388,520
Ensembl chr19:16,132,831...16,387,463
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Capillary malformations, congenital ClinVar PMID:22658544 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 More... NCBI chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
hereditary hemorrhagic telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor, type II-like 1 ISO
IEA
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia
OMIM:187300 | OMIM:600376 | OMIM:601101 | OMIM:615506
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
RGD
PMID:20135064 PMID:21158752 PMID:25637381 PMID:26176610 PMID:28492532 More... RGD:1300352 NCBI chr15:101,128,522...101,145,336
Ensembl chr15:101,128,522...101,145,336
JBrowse link
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 2:32,621,758...32,635,058
Ensembl chr 2:32,621,758...32,635,058
JBrowse link
G Dpm2 dolichol-phosphate (beta-D) mannosyltransferase 2 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 2:32,570,858...32,573,571
Ensembl chr 2:32,570,858...32,573,579
JBrowse link
G Eng endoglin no_association ISO
IEA
IMP
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia
ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome
OMIM:187300 | OMIM:600376 | OMIM:601101 | OMIM:615506
ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER
DNA:mutations:
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
ClinVar
MouseDO
CTD
RGD
PMID:8162075 PMID:9245986 PMID:9366572 PMID:9536098 PMID:9554745 More... RGD:1300352, RGD:11035216, RGD:11041566, RGD:11041563, RGD:11041183, RGD:11041169 NCBI chr 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
JBrowse link
G Gdf2 growth differentiation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chr14:33,941,039...33,947,198
Ensembl chr14:33,941,039...33,947,198
JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 2:32,575,226...32,583,787
Ensembl chr 2:32,574,797...32,583,782
JBrowse link
G Smad4 SMAD family member 4 ISO DNA:missense,frameshift, nonsense mutations:exons: RGD PMID:16613914 RGD:11035218 NCBI chr18:73,634,790...73,703,791
Ensembl chr18:73,639,009...73,703,780
JBrowse link
G St6galnac4 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 2:32,587,078...32,599,696
Ensembl chr 2:32,587,095...32,599,698
JBrowse link
G St6galnac6 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 2:32,599,709...32,620,809
Ensembl chr 2:32,599,709...32,620,806
JBrowse link
G Tnf tumor necrosis factor ISO protein:decreased expression:blood, lymphocyte RGD PMID:16611101 RGD:10450733 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor, type II-like 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 1 ClinVar PMID:9536098 PMID:15024723 PMID:15065824 PMID:15517393 PMID:15712271 More... NCBI chr15:101,128,522...101,145,336
Ensembl chr15:101,128,522...101,145,336
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 1
ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1
ClinVar
OMIM
RGD
PMID:2601709 PMID:9245986 PMID:9366572 PMID:9536098 PMID:9554745 More... RGD:11041166 NCBI chr 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 1 ClinVar NCBI chr18:73,634,790...73,703,791
Ensembl chr18:73,639,009...73,703,780
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:decreased expression:plasma: RGD PMID:15907823 RGD:11041166 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor, type II-like 1 ISO
IMP
ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 2
ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type II
DNA:mutations:
DNA:deletion, insertion and missense mutations:exons:
DNA:nonsense mutation:cds:145del(human)
ClinVar Annotator: match by term: Haemorrhagic telangiectasia 2
ClinVar Annotator: match by OMIM:600376
OMIM
ClinVar
RGD
PMID:6470589 PMID:8640225 PMID:9245985 PMID:9536098 PMID:10187774 More... RGD:11035216, RGD:11035214, RGD:11035213, RGD:10769364 NCBI chr15:101,128,522...101,145,336
Ensembl chr15:101,128,522...101,145,336
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Oral cavity telangiectasia ClinVar PMID:25741868 NCBI chr 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf2 growth differentiation factor 2 ISO ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5
ClinVar Annotator: match by OMIM:615506
OMIM
ClinVar
PMID:23972370 PMID:25741868 PMID:26801773 PMID:28492532 PMID:31661308 More... NCBI chr14:33,941,039...33,947,198
Ensembl chr14:33,941,039...33,947,198
JBrowse link
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations ClinVar PMID:10814716 NCBI chr 5:3,803,156...3,844,515
Ensembl chr 5:3,803,184...3,845,564
JBrowse link
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
DNA:mutations:exon:multiple
DNA:frameshift mutations, missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by OMIM:175050
OMIM
ClinVar
RGD
PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 More... RGD:11062720, RGD:11070199 NCBI chr18:73,634,790...73,703,791
Ensembl chr18:73,639,009...73,703,780
JBrowse link
Microcephaly-Capillary Malformation Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stambp STAM binding protein ISO ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome
ClinVar Annotator: match by OMIM:614261
OMIM
ClinVar
PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 More... NCBI chr 6:83,543,206...83,575,826
Ensembl chr 6:83,543,211...83,572,729
JBrowse link
multiple cutaneous and mucosal venous malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja4 gap junction protein, alpha 4 ISO ClinVar Annotator: match by term: Cutaneous venous malformation ClinVar NCBI chr 4:127,311,420...127,314,039
Ensembl chr 4:127,311,421...127,314,039
JBrowse link
G Tek TEK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Segmental undergrowth associated with venous malformation without capillary component
ClinVar Annotator: match by term: Multiple cutaneous and mucosal venous malformations
ClinVar Annotator: match by term: Multiple Cutaneous and Mucosal Venous Malformations
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:600195
OMIM
ClinVar
CTD
PMID:7783168 PMID:7833915 PMID:8980225 PMID:10369874 PMID:19079259 More... NCBI chr 4:94,739,086...94,874,976
Ensembl chr 4:94,739,289...94,874,976
JBrowse link
Patent Ductus Venosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 IGI RGD PMID:24924401 RGD:14700900 NCBI chr 7:140,763,819...140,774,990
Ensembl chr 7:140,763,739...140,774,987
JBrowse link
Primary Intraosseous Vascular Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elmo2 engulfment and cell motility 2 ISO ClinVar Annotator: match by term: Vascular malformation, primary intraosseous ClinVar
OMIM
PMID:11932989 PMID:25741868 PMID:27476657 NCBI chr 2:165,288,031...165,326,479
Ensembl chr 2:165,288,031...165,326,479
JBrowse link
Pulmonary Atresia with Intact Ventricular Septum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpm1 tropomyosin 1, alpha ISO ClinVar Annotator: match by term: Pulmonary atresia with intact ventricular septum ClinVar PMID:28359939 NCBI chr 9:67,022,590...67,049,672
Ensembl chr 9:67,022,590...67,049,406
JBrowse link
Pulmonary Atresia with Ventricular Septal Defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Pulmonary atresia with ventricular septal defect ClinVar PMID:25741868 NCBI chr 6:98,925,342...99,522,746
Ensembl chr 6:98,925,338...99,522,721
JBrowse link
retinal arterial tortuosity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen, type IV, alpha 1 ISO ClinVar Annotator: match by term: RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY
ClinVar Annotator: match by term: Retinal arteries, tortuosity of
OMIM
ClinVar
PMID:20818663 PMID:25228067 PMID:25741868 PMID:28492532 NCBI chr 8:11,198,423...11,312,889
Ensembl chr 8:11,198,423...11,312,826
JBrowse link
scimitar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd1 ankyrin repeat domain 1 (cardiac muscle) ISO ClinVar Annotator: match by term: Total anomalous pulmonary venous return ClinVar PMID:19525294 PMID:19608031 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chr19:36,111,965...36,119,844
Ensembl chr19:36,111,961...36,120,099
JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Anomalous pulmonary venous return ClinVar NCBI chr18:76,241,090...76,311,748
Ensembl chr18:76,241,580...76,310,963
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14614
    disease of anatomical entity 14222
      cardiovascular system disease 3711
        Cardiovascular Abnormalities 1147
          Vascular Malformations 83
            Arterio-Arterial Fistula + 0
            CLOVES syndrome 2
            Central Nervous System Vascular Malformations + 41
            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 1
            Prepapillary Vascular Loops 0
            Primary Intraosseous Vascular Malformation 1
            Pulmonary Atresia + 2
            Single Umbilical Artery 0
            Splenoportal Vascular Anomalies 0
            Vascular Fistula + 15
            arterial tortuosity syndrome 5
            arteriovenous malformation + 49
            familial multiple nevi flammei 3
            hereditary hemorrhagic telangiectasia + 11
            retinal arterial tortuosity 1
            scimitar syndrome + 2
Path 2
Term Annotations click to browse term
  disease 14614
    Developmental Disease 10822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9343
        Congenital Abnormalities 5665
          Cardiovascular Abnormalities 1147
            Vascular Malformations 83
              Arterio-Arterial Fistula + 0
              CLOVES syndrome 2
              Central Nervous System Vascular Malformations + 41
              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 1
              Prepapillary Vascular Loops 0
              Primary Intraosseous Vascular Malformation 1
              Pulmonary Atresia + 2
              Single Umbilical Artery 0
              Splenoportal Vascular Anomalies 0
              Vascular Fistula + 15
              arterial tortuosity syndrome 5
              arteriovenous malformation + 49
              familial multiple nevi flammei 3
              hereditary hemorrhagic telangiectasia + 11
              retinal arterial tortuosity 1
              scimitar syndrome + 2
paths to the root