Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Cardiovascular Abnormalities (D018376)
..Starting node ..Vascular Malformations (D054079)
Child Nodes:
........Arterial Tortuosity Syndrome (C565942)
........Arterio-Arterial Fistula (D001159) 2
........Arteriovenous Malformations (D001165) 12
........Capillary Malformations, Congenital, 1 (C562760) 1
........Central Nervous System Vascular Malformations (D020785) 10
........Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (C567863)
........Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
........Hemophilia A with Vascular Abnormality (C564415)
........May-Thurner Syndrome (D062108)
........Patent Ductus Venosus (C562830)
........Prepapillary Vascular Loops (C563287)
........Pulmonary Atresia (D018633) 2
........Scimitar Syndrome (D012587) 1
........Single Umbilical Artery (D058529)
........Splenoportal Vascular Anomalies (C562761)
........Telangiectasia, Hereditary Hemorrhagic (D013683) 4
........Vascular Fistula (D016157) 7
........Vascular Malformation, Primary Intraosseous (C564648)
Sister Nodes:
..Aberrant subclavian artery (C535555)
..Heart Defects, Congenital (D006330) 285
..Piepkorn Karp Hickok syndrome (C535774)
..VACTERL Association With Hydrocephalus (C564751)
..Vascular Malformations (D054079) 46
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11532
Name:	Vascular Malformations
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.
Alternative IDs:
ParentIDs:	MESH:D018376
TreeNumbers:	C14.240.850 \|C16.131.240.850
Synonyms:	Malformations, Vascular \|Malformation, Vascular \|Vascular Malformation
Slim Mappings:	Cardiovascular disease\|Congenital abnormality
Reference:	MedGen: D054079 MeSH: D054079 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants