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