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- Rare surgical thoracic disease ORPHA:97962
- Thoracic outlet syndrome ORPHA:97330
- Non-syndromic respiratory or mediastinal malformation ORPHA:108993
- Tracheal agenesis ORPHA:3346
- Congenital lobar emphysema ORPHA:1928
- Laryngotracheoesophageal cleft ORPHA:2004
- Laryngotracheoesophageal cleft type 1 ORPHA:93938
- Laryngotracheoesophageal cleft type 2 ORPHA:93939
- Laryngotracheoesophageal cleft type 3 ORPHA:93940
- Laryngotracheoesophageal cleft type 4 ORPHA:93941
- Laryngotracheoesophageal cleft type 0 ORPHA:280205
- Congenital pulmonary lymphangiectasia ORPHA:2414
- Congenital pulmonary airway malformation ORPHA:2444
- Congenital pulmonary airway malformation type 0 ORPHA:280827
- Congenital pulmonary airway malformation type 1 ORPHA:280832
- Congenital pulmonary airway malformation type 2 ORPHA:280840
- Congenital pulmonary airway malformation type 3 ORPHA:280847
- Congenital pulmonary airway malformation type 4 ORPHA:280854
- Pulmonary agenesis ORPHA:984
- Congenital respiratory-biliary fistula ORPHA:2040
- Primary pulmonary hypoplasia ORPHA:2257
- Pulmonary arteriovenous malformation ORPHA:2038
- Congenital pulmonary sequestration ORPHA:3161
- Intralobar congenital pulmonary sequestration ORPHA:280802
- Extralobar congenital pulmonary sequestration ORPHA:280811
- Communicating congenital bronchopulmonary-foregut malformation ORPHA:280821
- Bronchopulmonary dysplasia ORPHA:70589
- Congenital tracheomalacia ORPHA:95430
- Williams-Campbell syndrome ORPHA:411501
- Bronchial malformation ORPHA:649014
- Non-syndromic bridging bronchus ORPHA:648992
- Non-syndromic congenital bronchial atresia ORPHA:649010
- Isolated left bronchial isomerism ORPHA:649029
- Bronchogenic cyst ORPHA:2357
- Isolated tracheoesophageal fistula ORPHA:454750
- Syndromic respiratory or mediastinal malformation ORPHA:108995
- Matthew-Wood syndrome ORPHA:2470
- Fetal akinesia deformation sequence ORPHA:994
- Lung agenesis-heart defect-thumb anomalies syndrome ORPHA:1120
- 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
- Growth delay-hydrocephaly-lung hypoplasia syndrome ORPHA:3035
- Laryngo-onycho-cutaneous syndrome ORPHA:2407
- Opitz GBBB syndrome ORPHA:2745
- Lethal congenital contracture syndrome type 1 ORPHA:1486
- Non-syndromic diaphragmatic or thoracic malformation ORPHA:180776
- Syndromic diaphragmatic or thoracic malformation ORPHA:180779
- Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693
- Lethal hydranencephaly-diaphragmatic hernia syndrome ORPHA:480528
- Wolf-Hirschhorn syndrome ORPHA:280
- Cornelia de Lange syndrome ORPHA:199
- Pallister-Killian syndrome ORPHA:884
- Classical Ehlers-Danlos syndrome ORPHA:287
- Simpson-Golabi-Behmel syndrome ORPHA:373
- PAGOD syndrome ORPHA:991
- Pentalogy of Cantrell ORPHA:1335
- Diaphragmatic defect-limb deficiency-skull defect syndrome ORPHA:2141
- Donnai-Barrow syndrome ORPHA:2143
- Kabuki syndrome ORPHA:2322
- Matthew-Wood syndrome ORPHA:2470
- Cutis laxa ORPHA:209
- Geroderma osteodysplastica ORPHA:2078
- De Barsy syndrome ORPHA:2962
- SCARF syndrome ORPHA:3134
- Arterial tortuosity syndrome ORPHA:3342
- Occipital horn syndrome ORPHA:198
- Autosomal dominant cutis laxa ORPHA:90348
- Autosomal recessive cutis laxa type 1 ORPHA:90349
- Autosomal recessive cutis laxa type 2 ORPHA:90350
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- Autosomal recessive cutis laxa type 2B ORPHA:357064
- RIN2 syndrome ORPHA:217335
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ORPHA:221145
- Lethal arteriopathy syndrome due to fibulin-4 deficiency ORPHA:314718
- Craniofaciofrontodigital syndrome ORPHA:363705
- Emanuel syndrome ORPHA:96170
- Classical-like Ehlers-Danlos syndrome type 1 ORPHA:230839
- Diaphragmatic hernia-short bowel-asplenia syndrome ORPHA:527468
- Rare disease with thoracic aortic aneurysm and aortic dissection ORPHA:285014
- X-linked severe syndromic thoracic aortic aneurysm and dissection ORPHA:622925
- Marfan syndrome ORPHA:558
- Arterial tortuosity syndrome ORPHA:3342
- Vascular Ehlers-Danlos syndrome ORPHA:286
- Loeys-Dietz syndrome ORPHA:60030
- Familial thoracic aortic aneurysm and aortic dissection ORPHA:91387
- Neonatal Marfan syndrome ORPHA:284979
- Aneurysm-osteoarthritis syndrome ORPHA:284984
- Familial bicuspid aortic valve ORPHA:402075
- Familial aortic dissection ORPHA:229
- Multisystemic smooth muscle dysfunction syndrome ORPHA:404463