commit 326b99d43fdc9b210d2f5df79018ef03614ea684 Author: davidlagorce Date: Tue Dec 9 16:49:50 2025 +0100 DECEMBER 2025 diff --git a/Rare diseases and classifications/Classifications of rare diseases/en_product3_148.xml b/Rare diseases and classifications/Classifications of rare diseases/en_product3_148.xml index ed92eea..3d70339 100755 --- a/Rare diseases and classifications/Classifications of rare diseases/en_product3_148.xml +++ b/Rare diseases and classifications/Classifications of rare diseases/en_product3_148.xml @@ -1,3582 +1,3582 @@ - - - - - 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 - Heterotaxia - - 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 sided atrial 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 sided atrial 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 - Aorta coarctation - - 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 - Aorta coarctation - - 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 - - - - - - - - - - - - - + + + + + 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 + + + + + + + + + + + + +