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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:Central Nervous System Vascular Malformations
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Accession:DOID:9003443 term browser browse the term
Definition:Congenital, inherited, or acquired abnormalities involving ARTERIES; VEINS; or venous sinuses in the BRAIN; SPINAL CORD; and MENINGES.
Synonyms:exact_synonym: Brain Capillary Telangiectasia;   Brain Capillary Telangiectasias;   Brain Vascular Malformation;   Brain Vascular Malformations;   Central Nervous System Congenital Vascular Malformations;   Central Nervous System Vascular Anomalies;   Congenital Vascular Malformations, Central Nevous System;   Dural Arteriovenous Fistula;   Dural Arteriovenous Fistulas;   Persistent Cerebral Embryonic Artery;   Pontine Capillary Telangiectasia;   Pontine Capillary Telangiectasias;   Vascular Malformations, Congenital, Nervous System
 primary_id: MESH:D020785;   RDO:0005161

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Central Nervous System Vascular Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCM2 CCM2 scaffold protein susceptibility ISO DNA:deletions: ; Cerebral cavernous malformations, OMIM:603284 RGD PMID:17160895 RGD:1600689 NCBI chr21:13,606,716...13,687,656
Ensembl chr21:13,606,472...13,656,275 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO DNA:snp:cds:p.G562E (human) RGD PMID:16598045 RGD:1581204 NCBI chr 3:88,410,800...88,564,191
Ensembl chr 3:88,412,168...88,564,057 		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 ISO OMIM 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
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 chr21:56,770,694...56,816,409
Ensembl chr21:56,774,487...56,816,049 		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 chr 4:81,373,812...81,392,454
Ensembl chr 4:81,373,994...81,392,326 		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 chr 4:81,249,851...81,371,486
Ensembl chr 4:81,249,805...81,370,453 		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 anchoring protein 9 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... NCBI chr21:56,889,669...57,061,526
Ensembl chr21:56,890,183...57,061,232 		JBrowse link
G ANKIB1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr21:56,621,669...56,770,553
Ensembl chr21:56,624,114...56,718,920 		JBrowse link
G CCM2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25525273 PMID:25741868 PMID:28492532 NCBI chr21:13,606,716...13,687,656
Ensembl chr21:13,606,472...13,656,275 		JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... NCBI chr21:56,865,498...56,888,196
Ensembl chr21:56,865,312...56,886,698 		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 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 KRIT1 KRIT1 ankyrin repeat containing susceptibility ISO ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation | ClinVar Annotator: match by term: Cerebral cavernous malformations RGD
ClinVar		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More... RGD:1598379 NCBI chr21:56,770,694...56,816,409
Ensembl chr21:56,774,487...56,816,049 		JBrowse link
G LRRD1 leucine rich repeats and death domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... NCBI chr21:56,834,845...56,856,287
Ensembl chr21:56,835,305...56,856,108 		JBrowse link
G MTERF1 mitochondrial transcription termination factor 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... NCBI chr21:57,108,499...57,116,113
Ensembl chr21:57,108,537...57,116,106 		JBrowse link
G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:13,762,570...13,803,676
Ensembl chr 6:13,761,512...13,793,359 		JBrowse link
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 More... NCBI chr15:21,697,366...21,748,760
Ensembl chr15:21,706,675...21,749,470 		JBrowse link
G PON1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875 		JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146 		JBrowse link
G SERPINI1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr15:21,610,545...21,696,611
Ensembl chr15:21,610,791...21,645,701 		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 malformation 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders OMIM
ClinVar		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 More... NCBI chr21:56,770,694...56,816,409
Ensembl chr21:56,774,487...56,816,049 		JBrowse link
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 1 ClinVar PMID:25741868 NCBI chr15:21,697,366...21,748,760
Ensembl chr15:21,706,675...21,749,470 		JBrowse link
G PTGIS prostaglandin I2 synthase exacerbates ISO DNA:silent mutation:CDS:p.L256L (rs5628) (human) RGD PMID:26795600 RGD:401960081 NCBI chr 2:14,420,318...14,484,667
Ensembl chr 2:14,441,983...14,488,264 		JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCM2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 OMIM
ClinVar		 PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More... NCBI chr21:13,606,716...13,687,656
Ensembl chr21:13,606,472...13,656,275 		JBrowse link
G NACAD NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr21:13,594,969...13,603,436
Ensembl chr21:13,598,304...13,605,614 		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 exacerbates
onset		 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3
DNA:mutations:multiple (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 More... RGD:401827114 RGD:401827115 NCBI chr15:21,697,366...21,748,760
Ensembl chr15:21,706,675...21,749,470 		JBrowse link
G SERPINI1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532 NCBI chr15:21,610,545...21,696,611
Ensembl chr15:21,610,791...21,645,701 		JBrowse link
Cerebral Cavernous Malformation 4 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: Cerebral cavernous malformation 4 OMIM
ClinVar		 PMID:25741868 NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316 		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
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAND2 cullin associated and neddylation dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chr22:48,771,419...48,809,911
Ensembl chr22:48,771,987...48,809,093 		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 chr21:56,770,694...56,816,409
Ensembl chr21:56,774,487...56,816,049 		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 15387
    disease of anatomical entity 15073
      nervous system disease 13211
        Nervous System Malformations 2413
          Central Nervous System Vascular Malformations 51
            Cavernous Malformations of CNS and Retina 1
            Central Nervous System Venous Angioma 2
            Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations 1
            Sinus Pericranii 0
            arteriovenous malformations of the brain + 33
            cerebral cavernous malformation + 18
Path 2
Term Annotations click to browse term
  disease 15387
    Developmental Disease 13447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12572
        Congenital Abnormalities 7567
          Cardiovascular Abnormalities 1568
            Vascular Malformations 121
              Central Nervous System Vascular Malformations 51
                Cavernous Malformations of CNS and Retina 1
                Central Nervous System Venous Angioma 2
                Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations 1
                Sinus Pericranii 0
                arteriovenous malformations of the brain + 33
                cerebral cavernous malformation + 18
paths to the root