Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:arteriovenous malformation
go back to main search page
Accession:DOID:11294 term browser browse the term
Definition:A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. (DO)
Synonyms:exact_synonym: arteriovenous hemangioma;   arteriovenous malformations;   cirsoid aneurysm;   racemose aneurysm;   racemose angioma;   racemose hemangioma
 primary_id: MESH:D001165
 xref: ICD10CM:I77.0;   ICDO:9123/0;   NCI:C2882
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
arteriovenous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 ISO RGD PMID:11062473 RGD:1300250 NCBI chr11:48,063,099...48,091,705
Ensembl chr11:48,082,135...48,093,630
JBrowse link
G ENG endoglin susceptibility ISO associated with Telangiectasia, Hereditary Hemorrhagic; RGD PMID:8728706 PMID:24520391 RGD:11041184 RGD:11041564 NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040
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 chr28:12,389,884...12,416,746
Ensembl chr28:12,389,942...12,416,920
JBrowse link
G GLMN glomulin, FKBP associated protein ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr20:40,950,948...41,007,120
Ensembl chr20:40,951,342...41,008,791
JBrowse link
G MAP2 microtubule associated protein 2 ISO protein:decreased expression:hippocampus RGD PMID:20873448 RGD:6483324 NCBI chr10:95,319,649...95,431,106
Ensembl chr10:95,349,157...95,431,320
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16720380 RGD:1582655 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Arteriovenous malformation ClinVar NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316
JBrowse link
G RASA1 RAS p21 protein activator 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14639529 PMID:15917201 RGD:1581296 NCBI chr 4:81,249,851...81,371,486
Ensembl chr 4:81,249,805...81,370,453
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 chr21:56,621,669...56,770,553
Ensembl chr21:56,624,114...56,718,920
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 chr21:56,770,694...56,816,409
Ensembl chr21:56,774,487...56,816,049
JBrowse link
Arteriovenous Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACKR1 atypical chemokine receptor 1 (Duffy blood group) ISO RGD PMID:24429330 RGD:9681736 NCBI chr20:4,742,326...4,746,615 JBrowse link
G ANGPT2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr 8:6,283,619...6,345,320
Ensembl chr 8:6,280,584...6,344,729
JBrowse link
G ARRB1 arrestin beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr 1:66,489,358...66,580,167
Ensembl chr 1:66,490,102...66,580,154
JBrowse link
G ARRB2 arrestin beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr16:4,191,040...4,202,382
Ensembl chr16:4,191,172...4,202,385
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO in Long Evans rats;mRNA:increased expression:aorta RGD PMID:16428894 RGD:8552771 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930
JBrowse link
G DES desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chr10:105,312,348...105,320,869 JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chr 7:70,089,394...70,157,423 JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr21:119,174,829...119,196,840 JBrowse link
G RBP4 retinol binding protein 4 exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:33556944 RGD:329845868 NCBI chr 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr22:48,134,133...48,140,870
Ensembl chr22:48,134,637...48,140,600
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:brain cortex, brain dura mater: RGD PMID:10541235 PMID:24626343 RGD:8551823 RGD:8655590 NCBI chr17:28,377,959...28,394,508 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 like type 1 ISO OMIM:108010 MouseDO NCBI chr11:48,063,099...48,091,705
Ensembl chr11:48,082,135...48,093,630
JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 4:84,498,630...85,082,813
Ensembl chr 4:84,498,573...85,083,504
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr21:109,495,525...109,690,261 JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:1,039,709...1,106,212
Ensembl chr 5:1,078,973...1,106,507
JBrowse link
G CDH2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:52,426,381...52,652,986
Ensembl chr18:52,426,077...52,654,828
JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239
JBrowse link
G ENG endoglin disease_progression ISO DNA:polymorphism: : 207G>A(human)
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
RGD
ClinVar
PMID:15879500 PMID:24876084 PMID:25741868 PMID:28492532 PMID:30120215 RGD:11041171 NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 3:7,412,506...7,608,122
Ensembl chr 3:7,412,172...7,607,967
JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr10:9,302,890...9,561,287
Ensembl chr10:9,304,645...9,369,115
JBrowse link
G IL17RD interleukin 17 receptor D ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901 NCBI chr22:18,416,143...18,489,855
Ensembl chr22:18,416,443...18,434,271
JBrowse link
G IL6 interleukin 6 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation
OMIM
ClinVar
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 More... NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
JBrowse link
G LEMD3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:60,861,671...60,945,858
Ensembl chr11:60,862,265...60,946,040
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 chr14:5,391,416...5,579,163
Ensembl chr14:5,391,449...5,583,916
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar NCBI chr25:84,431,436...84,463,387
Ensembl chr25:84,434,527...84,463,249
JBrowse link
G NOTCH4 notch receptor 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:27231971 NCBI chr17:39,806,864...39,837,101
Ensembl chr17:39,808,035...39,837,365
JBrowse link
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 More... NCBI chr15:21,697,366...21,748,760
Ensembl chr15:21,706,675...21,749,470
JBrowse link
G PITPNM3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr16:5,830,107...5,934,979
Ensembl chr16:5,834,088...5,916,697
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 8:63,781,892...64,061,222
Ensembl chr 8:63,781,948...64,060,864
JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868
G SCUBE2 signal peptide, CUB domain and EGF like domain containing 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 1:55,719,578...55,792,950
Ensembl chr 1:55,722,250...55,791,371
JBrowse link
G SYN3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr19:15,330,179...15,821,965 JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr19:15,621,609...15,684,118
Ensembl chr19:15,622,431...15,680,449
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chr17:28,377,959...28,394,508 JBrowse link
G ZFYVE16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 4:74,579,573...74,644,331
Ensembl chr 4:74,579,982...74,644,784
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 Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome ClinVar PMID:9219684 PMID:9536098 PMID:14639529 PMID:15574420 PMID:16199547 More... NCBI chr 4:81,373,812...81,392,454
Ensembl chr 4:81,373,994...81,392,326
JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome ClinVar PMID:25741868 NCBI chr28:12,389,884...12,416,746
Ensembl chr28:12,389,942...12,416,920
JBrowse link
G RASA1 RAS p21 protein activator 1 susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome
RGD
ClinVar
PMID:9219684 PMID:9536098 PMID:14639529 PMID:15574420 PMID:16199547 More... RGD:734495 NCBI chr 4:81,249,851...81,371,486
Ensembl chr 4:81,249,805...81,370,453
JBrowse link
G STAMBP STAM binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr14:33,417,342...33,453,507
Ensembl chr14:33,416,821...33,451,593
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 Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:9219684 PMID:14639529 PMID:15574420 PMID:16199547 PMID:18363760 More... NCBI chr 4:81,373,812...81,392,454
Ensembl chr 4:81,373,994...81,392,326
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316
JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 OMIM
ClinVar
PMID:9219684 PMID:14639529 PMID:15574420 PMID:16199547 PMID:18363760 More... NCBI chr 4:81,249,851...81,371,486
Ensembl chr 4:81,249,805...81,370,453
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: EPHB4-related condition | ClinVar Annotator: match by term: EPHB4-related disorders OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21348050 PMID:25741868 More... NCBI chr28:12,389,884...12,416,746
Ensembl chr28:12,389,942...12,416,920
JBrowse link
G SLC12A9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 ClinVar PMID:25741868 PMID:28492532 PMID:28687708 NCBI chr28:12,358,618...12,374,117
Ensembl chr28:12,359,056...12,373,458
JBrowse link
CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome ClinVar NCBI chr12:88,386,597...88,606,787
Ensembl chr12:88,385,377...88,605,845
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: CLAPO 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 OMIM
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316
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 term: STAMBP-related condition OMIM
ClinVar
PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 More... NCBI chr14:33,417,342...33,453,507
Ensembl chr14:33,416,821...33,451,593
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 PMID:33912852 NCBI chr20:98,092,282...98,095,036
Ensembl chr20:98,092,785...98,093,786
JBrowse link
Vein of Galen Aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106 NCBI chr 2:80,457,907...80,535,855
Ensembl chr 2:80,458,270...80,458,989
JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr28:12,389,884...12,416,746
Ensembl chr28:12,389,942...12,416,920
JBrowse link
G KAT6A lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 8:39,912,120...40,035,776
Ensembl chr 8:39,911,776...39,962,735
JBrowse link
G KEL Kell metallo-endopeptidase (Kell blood group) ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr21:111,819,230...111,846,966
Ensembl chr21:111,819,368...111,840,142
JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:28492532 PMID:30578106 NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423
JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr12:77,364,468...77,546,356
Ensembl chr12:77,375,500...77,546,314
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of cellular proliferation 7341
      benign neoplasm 2098
        cell type benign neoplasm 1848
          hemangioma 111
            arteriovenous malformation 55
              Arteriovenous Fistula + 15
              CLAPO Syndrome 1
              Capillary Malformation-Arteriovenous Malformation + 7
              Microcephaly-Capillary Malformation Syndrome 1
              Spinal Arterial Venous Malformations with Cutaneous Hemangiomas 0
              arteriovenous malformations of the brain + 33
              multiple cutaneous and mucosal venous malformations 1
Path 2
Term Annotations click to browse term
  disease 15388
    disease of cellular proliferation 7341
      Neoplasms by Site 6819
        organ system benign neoplasm 1223
          cardiovascular organ benign neoplasm 126
            hemangioma 111
              arteriovenous malformation 55
                Arteriovenous Fistula + 15
                CLAPO Syndrome 1
                Capillary Malformation-Arteriovenous Malformation + 7
                Microcephaly-Capillary Malformation Syndrome 1
                Spinal Arterial Venous Malformations with Cutaneous Hemangiomas 0
                arteriovenous malformations of the brain + 33
                multiple cutaneous and mucosal venous malformations 1
paths to the root