Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 156271 Orphanet classification of rare cardiac malformations 97965 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97965 Rare surgical cardiac disease Category 88991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88991 Rare congenital non-syndromic heart malformation Category 99095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99095 Congenital Gerbode defect Morphological anomaly 2846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2846 Congenital pericardium anomaly Category 99129 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99129 Congenital complete agenesis of pericardium Morphological anomaly 99130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99130 Congenital partial agenesis of pericardium Morphological anomaly 99131 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99131 Pleuro-pericardial cyst Morphological anomaly 1081 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1081 Coronary artery congenital malformation Category 2041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2041 Coronary arterial fistula Morphological anomaly 95491 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95491 Congenital coronary artery aneurysm Morphological anomaly 541478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541478 Anomalous aortic origin of coronary artery Clinical group 541443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541443 Anomalous aortic origin of the left coronary artery Morphological anomaly 541454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541454 Anomalous aortic origin of the right coronary artery Morphological anomaly 541507 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541507 Anomalous origin of coronary artery from the pulmonary artery Morphological anomaly 542822 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542822 Anomaly of the coronary ostia Clinical group 99087 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99087 Coronary ostial stenosis or atresia Morphological anomaly 99089 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99089 Abnormal number of coronary ostia Morphological anomaly 99090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99090 Malposition of a coronary ostium Morphological anomaly 1686 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1686 Cardiac diverticulum Morphological anomaly 1461 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1461 Criss-cross heart Morphological anomaly 95483 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95483 Univentricular cardiopathy Category 2248 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2248 Hypoplastic left heart syndrome Morphological anomaly 1464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1464 Univentricular heart Morphological anomaly 98723 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98723 Hypoplastic right heart syndrome Clinical group 1208 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208 Pulmonary atresia-intact ventricular septum syndrome Morphological anomaly 439 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439 Isolated right ventricular hypoplasia Morphological anomaly 98716 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98716 Heart position anomaly Category 450 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=450 Visceral heterotaxy Category 1666 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1666 Dextrocardia Morphological anomaly 95854 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95854 Levocardia Morphological anomaly 97548 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97548 Right isomerism Malformation syndrome 101063 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101063 Situs inversus totalis Morphological anomaly 157769 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157769 Situs ambiguus Morphological anomaly 566862 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566862 Left isomerism Malformation syndrome 95443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95443 Mesocardia Morphological anomaly 98717 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98717 Transposition of the great arteries and conotruncal cardiac anomaly Category 2445 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2445 Conotruncal heart malformations Category 3303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3303 Tetralogy of Fallot Malformation syndrome 3384 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3384 Common arterial trunk Morphological anomaly 665058 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=665058 Common arterial trunk with pulmonary dominance and interrupted aortic arch Clinical subtype 665044 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=665044 Common arterial trunk with aortic dominance Clinical subtype 982 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982 Pulmonary valve agenesis Clinical group 99048 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome Malformation syndrome 101206 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome Malformation syndrome 1138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1138 Abnormal origin of the pulmonary artery Clinical group 658574 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658574 Isolated pulmonary artery sling Morphological anomaly 99049 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99049 Pulmonary artery coming from patent ductus arteriosus Morphological anomaly 99050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99050 Abnormal origin of right or left pulmonary artery from the aorta Morphological anomaly 1207 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1207 Pulmonary atresia with ventricular septal defect Morphological anomaly 2037 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2037 Congenital aortopulmonary window Morphological anomaly 3426 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3426 Double outlet right ventricle Morphological anomaly 99043 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis Clinical subtype 99045 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99045 Double outlet right ventricle with subpulmonary ventricular septal defect Clinical subtype 99046 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect Clinical subtype 423693 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect Clinical subtype 423712 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy Clinical subtype 3427 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3427 Double outlet left ventricle Morphological anomaly 98718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98718 Aortic malformation Category 3193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193 Supravalvular aortic stenosis Morphological anomaly 1457 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1457 Coarctation of aorta Morphological anomaly 2299 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2299 Aortic arch interruption Morphological anomaly 3092 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3092 Fixed subaortic stenosis Morphological anomaly 99051 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99051 Discrete fixed membranous subaortic stenosis Clinical subtype 99052 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99052 Discrete fibromuscular subaortic stenosis Clinical subtype 99053 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99053 Tunnel subaortic stenosis Clinical subtype 3093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093 Congenital aortic valve stenosis Morphological anomaly 95448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448 Congenital aortic valve atresia Clinical subtype 101043 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043 Congenital aortic valve dysplasia Clinical subtype 402075 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075 Familial bicuspid aortic valve Morphological anomaly 1456 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1456 Middle aortic syndrome Morphological anomaly 542568 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542568 Quadricuspid aortic valve Morphological anomaly 98719 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98719 Pulmonary artery or pulmonary branch anomaly Category 1208 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208 Pulmonary atresia-intact ventricular septum syndrome Morphological anomaly 982 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982 Pulmonary valve agenesis Clinical group 99048 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome Malformation syndrome 101206 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome Malformation syndrome 980 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=980 Absence of the pulmonary artery Morphological anomaly 3189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3189 Congenital pulmonary valvar stenosis Morphological anomaly 3190 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3190 Subpulmonary stenosis Clinical subtype 3192 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3192 Supravalvular pulmonary stenosis Clinical subtype 99054 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99054 Valvular pulmonary stenosis Clinical subtype 1676 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1676 Idiopathic pulmonary artery dilatation Disease 99083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99083 Pulmonary artery hypoplasia Morphological anomaly 99084 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99084 Peripheral pulmonary stenosis Morphological anomaly 216675 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216675 Transposition of the great arteries Category 860 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=860 Congenitally uncorrected transposition of the great arteries Morphological anomaly 99042 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99042 Congenitally uncorrected transposition of the great arteries with coarctation Clinical subtype 216718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216718 Isolated congenitally uncorrected transposition of the great arteries Clinical subtype 216729 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation Clinical subtype 216694 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216694 Congenitally corrected transposition of the great arteries Morphological anomaly 98720 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98720 Atrioventricular valve anomaly Category 2447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2447 Congenital mitral malformation Category 95464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95464 Congenital mitral valve insufficiency and/or stenosis Category 741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=741 Familial mitral valve prolapse Morphological anomaly 1205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1205 Mitral atresia Morphological anomaly 99057 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99057 Congenital mitral stenosis Morphological anomaly 99058 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99058 Hypoplasia of the mitral valve annulus Morphological anomaly 99059 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99059 Congenital supravalvular mitral ring Morphological anomaly 99060 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99060 Congenital unguarded mitral orifice Morphological anomaly 99061 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99061 Accessory mitral valve tissue Morphological anomaly 99062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99062 Mitral valve agenesis Morphological anomaly 99063 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99063 Shone complex Malformation syndrome 101932 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101932 Anomaly of the mitral subvalvular apparatus Morphological anomaly 95465 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95465 Cleft mitral valve Morphological anomaly 95474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95474 Double-orifice mitral valve Clinical subtype 99064 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99064 Straddling and/or overriding mitral valve Clinical subtype 98721 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98721 Congenital tricuspid malformation Category 95459 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95459 Congenital tricuspid stenosis Morphological anomaly 95461 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95461 Straddling or overriding tricuspid valve Morphological anomaly 95462 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95462 Accessory tricuspid valve tissue Morphological anomaly 95463 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95463 Anomaly of the tricuspid subvalvular apparatus Category 99055 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99055 Congenital anomaly of the tricuspid valve chordae Morphological anomaly 99056 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99056 Parachute tricuspid valve Morphological anomaly 555874 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555874 Congenital tricuspid valve dysplasia Morphological anomaly 1880 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1880 Ebstein malformation of the tricuspid valve Morphological anomaly 1209 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1209 Tricuspid atresia Morphological anomaly 95457 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95457 Tricuspid valve agenesis Morphological anomaly 98722 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98722 Atrioventricular septal defect Clinical group 1329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1329 Complete atrioventricular septal defect Morphological anomaly 99067 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99067 Complete atrioventricular septal defect with ventricular hypoplasia Clinical subtype 99068 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99068 Complete atrioventricular septal defect-tetralogy of Fallot Clinical subtype 576227 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576227 Complete atrioventricular septal defect without ventricular hypoplasia Clinical subtype 1330 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1330 Partial atrioventricular septal defect Morphological anomaly 576232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576232 Partial atrioventricular septal defect with ventricular hypoplasia Clinical subtype 576235 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576235 Partial atrioventricular septal defect without ventricular hypoplasia Clinical subtype 576242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576242 Intermediate atrioventricular septal defect Morphological anomaly 555877 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555877 FLNA-related X-linked myxomatous valvular dysplasia Morphological anomaly 98724 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98724 Congenital anomaly of the great arteries Category 1132 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1132 Aortic arch defects Category 99075 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99075 Encircling double aortic arch Morphological anomaly 99076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99076 Persistent fifth aortic arch Morphological anomaly 99077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99077 Kommerell diverticulum Morphological anomaly 99078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99078 Neuhauser anomaly Morphological anomaly 99079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99079 Cervical aortic arch Morphological anomaly 99081 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99081 Right aortic arch Morphological anomaly 99082 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99082 Dysphagia lusoria Morphological anomaly 185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185 Scimitar syndrome Malformation syndrome 95485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95485 Arterial duct anomaly Category 95486 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95486 Premature closure of the arterial duct Morphological anomaly 99072 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99072 Congenital patent ductus arteriosus aneurysm Morphological anomaly 466729 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466729 Familial patent arterial duct Morphological anomaly 98718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98718 Aortic malformation Category 3193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193 Supravalvular aortic stenosis Morphological anomaly 1457 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1457 Coarctation of aorta Morphological anomaly 2299 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2299 Aortic arch interruption Morphological anomaly 3092 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3092 Fixed subaortic stenosis Morphological anomaly 99051 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99051 Discrete fixed membranous subaortic stenosis Clinical subtype 99052 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99052 Discrete fibromuscular subaortic stenosis Clinical subtype 99053 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99053 Tunnel subaortic stenosis Clinical subtype 3093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093 Congenital aortic valve stenosis Morphological anomaly 95448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448 Congenital aortic valve atresia Clinical subtype 101043 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043 Congenital aortic valve dysplasia Clinical subtype 402075 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075 Familial bicuspid aortic valve Morphological anomaly 1456 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1456 Middle aortic syndrome Morphological anomaly 542568 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542568 Quadricuspid aortic valve Morphological anomaly 98719 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98719 Pulmonary artery or pulmonary branch anomaly Category 1208 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208 Pulmonary atresia-intact ventricular septum syndrome Morphological anomaly 982 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982 Pulmonary valve agenesis Clinical group 99048 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome Malformation syndrome 101206 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome Malformation syndrome 980 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=980 Absence of the pulmonary artery Morphological anomaly 3189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3189 Congenital pulmonary valvar stenosis Morphological anomaly 3190 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3190 Subpulmonary stenosis Clinical subtype 3192 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3192 Supravalvular pulmonary stenosis Clinical subtype 99054 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99054 Valvular pulmonary stenosis Clinical subtype 1676 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1676 Idiopathic pulmonary artery dilatation Disease 99083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99083 Pulmonary artery hypoplasia Morphological anomaly 99084 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99084 Peripheral pulmonary stenosis Morphological anomaly 98725 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98725 Ascending aorta anomaly Category 1054 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1054 Aneurysm of sinus of Valsalva Morphological anomaly 3093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093 Congenital aortic valve stenosis Morphological anomaly 95448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448 Congenital aortic valve atresia Clinical subtype 101043 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043 Congenital aortic valve dysplasia Clinical subtype 3400 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3400 Aorto-ventricular tunnel Morphological anomaly 99070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99070 Aorto-right ventricular tunnel Clinical subtype 99071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99071 Aorto-left ventricular tunnel Clinical subtype 98727 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98727 Rare atrial defect and interatrial communication Category 1478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1478 Interatrial communication Morphological anomaly 99103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99103 Atrial septal defect, ostium secundum type Clinical subtype 99104 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99104 Atrial septal defect, coronary sinus type Clinical subtype 99105 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99105 Atrial septal defect, sinus venosus type Clinical subtype 99106 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99106 Atrial septal defect, ostium primum type Clinical subtype 1463 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1463 Triatrial heart Clinical group 99098 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99098 Cor triatriatum dexter Morphological anomaly 99099 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99099 Cor triatriatum sinister Morphological anomaly 1677 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1677 Familial idiopathic dilatation of the right atrium Morphological anomaly 95510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95510 Atrial appendage anomaly Category 99100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99100 Juxtaposition of the atrial appendages Morphological anomaly 99101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99101 Ectasia of the right atrial appendage Morphological anomaly 99102 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99102 Ectasia of the left atrial appendage Morphological anomaly 99107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99107 Atrial septal aneurysm Morphological anomaly 568065 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568065 EPHB4-related lymphatic-related hydrops fetalis Disease 363189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363189 Congenital anomaly of the great veins Category 3091 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3091 Congenital systemic veins anomaly Category 95498 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95498 Congenital anomaly of superior vena cava Category 652668 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652668 Primary superior vena cava aneurysm Malformation syndrome 99109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium Morphological anomaly 99110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99110 Right superior vena cava connecting to left-sided atrium Morphological anomaly 99111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99111 Persistent left superior vena cava connecting to the roof of left-sided atrium Morphological anomaly 99112 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99112 Absence of innominate vein Morphological anomaly 99113 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99113 Subaortic course of innominate vein Morphological anomaly 99114 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99114 Agenesis of the superior vena cava Morphological anomaly 95499 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95499 Congenital anomaly of the inferior vena cava Category 652678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652678 Primary inferior vena cava aneurysm Morphological anomaly 99119 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99119 Right inferior vena cava connecting to left-sided atrium Morphological anomaly 99120 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99120 Persistent eustachian valve Morphological anomaly 99121 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99121 Azygos continuation of the inferior vena cava Morphological anomaly 99122 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99122 Congenital stenosis of the inferior vena cava Morphological anomaly 99123 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99123 Inferior vena cava interruption without azygos continuation Morphological anomaly 95500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95500 Congenital anomaly of the coronary sinus Category 99117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99117 Coronary sinus stenosis Morphological anomaly 99118 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99118 Coronary sinus atresia Morphological anomaly 95507 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95507 Congenital anomaly of hepatic vein Morphological anomaly 480531 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480531 Congenital portosystemic shunt Morphological anomaly 98729 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98729 Congenital pulmonary veins anomaly Category 3090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3090 Congenital pulmonary venous return anomaly Clinical group 99124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99124 Congenital partial pulmonary venous return anomaly Morphological anomaly 99125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99125 Congenital total pulmonary venous return anomaly Morphological anomaly 185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185 Scimitar syndrome Malformation syndrome 3188 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3188 Congenital pulmonary veins atresia or stenosis Clinical group 99126 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99126 Congenital pulmonary vein atresia Morphological anomaly 642071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642071 Primary pulmonary vein stenosis Disease 448270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448270 Ectopia cordis Morphological anomaly 1055 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1055 Congenital left ventricular aneurysm Malformation syndrome 474347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474347 Rare congenital anomaly of ventricular septum Clinical group 99094 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99094 Laubry-Pezzi syndrome Morphological anomaly 99092 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99092 Interventricular septum aneurysm Morphological anomaly 156532 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156532 Rare syndrome with cardiac malformations Category 488618 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618 Transketolase deficiency Malformation syndrome 467176 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Disease 138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 CHARGE syndrome Malformation syndrome 567 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 22q11.2 deletion syndrome Malformation syndrome 904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 Williams syndrome Malformation syndrome 52 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 Alagille syndrome Malformation syndrome 261600 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 Alagille syndrome due to 20p12 microdeletion Etiological subtype 261619 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 Alagille syndrome due to a JAG1 point mutation Etiological subtype 261629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 Alagille syndrome due to a NOTCH2 point mutation Etiological subtype 289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 Ellis Van Creveld syndrome Malformation syndrome 392 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 Holt-Oram syndrome Malformation syndrome 1352 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome Malformation syndrome 2516 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2516 Microcephaly-cardiac defect-lung malsegmentation syndrome Malformation syndrome 2886 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886 TARP syndrome Malformation syndrome 1479 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1479 Atrial septal defect-atrioventricular conduction defects syndrome Malformation syndrome 3316 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316 Thomas syndrome Malformation syndrome 42775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 PHACE syndrome Malformation syndrome 69737 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737 Bosley-Salih-Alorainy syndrome Malformation syndrome 75389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome Malformation syndrome 137628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137628 Cardiac anomalies-heterotaxy syndrome Malformation syndrome 217026 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type Malformation syndrome 228190 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome Malformation syndrome 228410 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228410 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome Malformation syndrome 664404 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664404 6q25.1 microdeletion syndrome Etiological subtype 664401 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation Etiological subtype 230851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230851 Cardiac-valvular Ehlers-Danlos syndrome Disease 284247 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284247 Familial retinal arterial macroaneurysm Malformation syndrome 369891 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency Malformation syndrome 371183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371183 Congenital disorder of glycosylation with cardiac malformation as a major feature Category 709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 Peters plus syndrome Malformation syndrome 2953 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 Musculocontractural Ehlers-Danlos syndrome Disease 3474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 CHIME syndrome Malformation syndrome 79329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329 MGAT2-CDG Disease 79333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 COG7-CDG Disease 284139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139 Larsen-like syndrome, B3GAT3 type Malformation syndrome 444077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome Malformation syndrome 2475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2475 White forelock with malformations Malformation syndrome 98733 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98733 Noonan syndrome and Noonan-related syndrome Category 648 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 Noonan syndrome Malformation syndrome 3071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 Costello syndrome Malformation syndrome 500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 Noonan syndrome with multiple lentigines Malformation syndrome 1340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 Cardiofaciocutaneous syndrome Malformation syndrome 2701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 Noonan syndrome-like disorder with loose anagen hair Malformation syndrome 363972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Malformation syndrome 638 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638 Neurofibromatosis-Noonan syndrome Malformation syndrome 453499 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome Malformation syndrome 352665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion Etiological subtype 453504 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation Etiological subtype 3191 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3191 Subaortic stenosis-short stature syndrome Malformation syndrome 457193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457193 KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome Malformation syndrome 562569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome Malformation syndrome 870 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 Down syndrome Malformation syndrome 2519 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2519 Microcephaly-seizures-intellectual disability-heart disease syndrome Malformation syndrome 521438 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438 Congenital vertebral-cardiac-renal anomalies syndrome Malformation syndrome 496693 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome Malformation syndrome 508476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome Malformation syndrome 508488 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488 8q24.3 microdeletion syndrome Malformation syndrome 508498 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome Malformation syndrome 1354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354 Heart defects-limb shortening syndrome Malformation syndrome 580933 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580933 Lethal brain and heart developmental defects Malformation syndrome 589435 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome Malformation syndrome 592570 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome Malformation syndrome 597743 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome Malformation syndrome 664438 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome Malformation syndrome 684305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684305 Neurooculocardiogenitourinary syndrome Disease 684742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684742 2q13 microdeletion syndrome Malformation syndrome 688642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688642 Turnpenny-Fry syndrome Malformation syndrome 689822 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689822 Structural heart defects-renal anomalies syndrome Malformation syndrome 646278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646278 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome Disease