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