has characteristic has characteristic syndromic disease congenital arteriovenous fistula https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/5963 https://github.com/monarch-initiative/mondo/issues/7205 https://rarediseases.info.nih.gov/diseases/6150/congenital-arteriovenous-shunt https://www.malacards.org/card/congenital_arteriovenous_fistula MONDO:0020296 NCIT:C35377 A congenital vascular disorder characterized byan abnormal connection between an artery and a vein, appearing as varicose veins with port wine discoloration, leading to a bypass of the capillary bed. Signs and symptoms include palpable continuous thrill in the dilated vessels, continuous machinery murmur with systolic accentuation, collapsing arterial pulse, Nicoladoni Branham sign, as well as local gigantism and hot ulcers due to hypoxia, among others. SCTID:234148007 MedDRA:10003226 MESH:D001164 congenital arteriovenous shunt GARD:0019560 Orphanet:98731 MEDGEN:137676 UMLS:C0332965 congenital congenital anomaly of cardiovascular system