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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: Arteriovenous Malformations (D001165)
Parent Node: Vascular Fistula (D016157)
..Starting node ..Arteriovenous Fistula (D001164)
Child Nodes:
........Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas (C563940)
........Pulmonary Arteriovenous Fistulas (C562404)
........Wyburn Mason's syndrome (C536752)
Sister Nodes:
..Arterio-Arterial Fistula (D001159) 2
..Arteriovenous Fistula (D001164) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	888
Name:	Arteriovenous Fistula
Definition:	An abnormal direct communication between an artery and a vein without passing through the CAPILLARIES. An A-V fistula usually leads to the formation of a dilated sac-like connection, arteriovenous aneurysm. The locations and size of the shunts determine the degree of effects on the cardiovascular functions such as BLOOD PRESSURE and HEART RATE.
Alternative IDs:
ParentIDs:	MESH:D001165\|MESH:D016157
TreeNumbers:	C14.240.850.750.147 \|C14.240.850.984.750 \|C14.907.150.125 \|C14.907.933.555 \|C16.131.240.850.750.125 \|C23.300.575.950.250
Synonyms:	Aneurysm, Arteriovenous \|Arteriovenous Aneurysm \|Arteriovenous Fistulas \|Fistula, Arteriovenous \|Fistulas, Arteriovenous
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Pathology (anatomical condition)
Reference:	MedGen: D001164 MeSH: D001164 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants