aortic valve disorder familial bicuspid aortic valve https://github.com/monarch-initiative/mondo/issues/6876 https://github.com/monarch-initiative/mondo/issues/6877 AOVD1 A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection). aortic valve disease type 1 GARD:0017670 aortic valve disease 1 UMLS:C4749284 OMIMPS:109730 MEDGEN:1670287 DOID:0080332 MONDO:0007194 familial BAV Orphanet:402075 disorder of development or morphogenesis cardiogenetic disease