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
Truncus arteriosus
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
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
1455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1455
Autosomal dominant coarctation of aorta
Clinical subtype
1456
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1456
Atypical coarctation of aorta
Clinical subtype
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
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
1455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1455
Autosomal dominant coarctation of aorta
Clinical subtype
1456
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1456
Atypical coarctation of aorta
Clinical subtype
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
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
Polyvalvular heart disease syndrome
Malformation syndrome
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
263508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508
COG1-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
Autosomal dominant 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