domingo, 27 de enero de 2019

Lung Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Lung Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

National Center for Advancing and Translational Sciences

Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Lung Diseases

Acropectorovertebral dysplasia F form 
Acute interstitial pneumonia 
Allergic bronchopulmonary aspergillosis 
Alpha-1 antitrypsin deficiency 
Alveolar capillary dysplasia 
Arterial tortuosity syndrome 
Autoimmune pulmonary alveolar proteinosis 
Beryllium disease 
Birt-Hogg-Dube syndrome 
Blau syndrome 
Brain-lung-thyroid syndrome 
Bronchiolitis obliterans 
Bronchiolitis obliterans organizing pneumonia 
Bronchogenic cyst 
Bronchopulmonary dysplasia 
Cantu syndrome 
Catamenial pneumothorax 
Children's interstitial lung disease 
Chronic granulomatous disease 
Chronic thromboembolic pulmonary hypertension 
Classical-like Ehlers-Danlos syndrome 
Coal worker's pneumoconiosis 
Congenital diaphragmatic hernia 
Congenital lobar emphysema 
Congenital pulmonary alveolar proteinosis 
Congenital pulmonary lymphangiectasia 
Congenital tracheomalacia 
Cornelia de Lange syndrome 
Costocoracoid ligament congenitally short 
Cranioectodermal dysplasia 
CREST syndrome 
Cryptogenic organizing pneumonia 
Cutis laxa, autosomal dominant 
Cutis laxa, autosomal recessive type 1 
Cystic fibrosis 
Cystic medial necrosis of aorta 
Diffuse cutaneous systemic sclerosis 
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia 
Diffuse panbronchiolitis 
Donnai-Barrow syndrome 
Eisenmenger syndrome 
Ellis-Van Creveld syndrome 
Emanuel syndrome 
Enthesitis-related juvenile idiopathic arthritis 
Eosinophilic granulomatosis with polyangiitis 
Familial hypocalciuric hypercalcemia type 1 
Familial hypocalciuric hypercalcemia type 2 
Familial hypocalciuric hypercalcemia type 3 
Familial mixed cryoglobulinemia 
Familial thoracic aortic aneurysm and dissection 
Familial thyroglossal duct cyst 
Feingold syndrome 
Fetal akinesia deformation sequence 
Fibrosing mediastinitis 
Froster-Huch syndrome 
Game Friedman Paradice syndrome 
Gaucher disease type 1 
Gaucher disease type 2 
Gaucher disease type 3 
Geroderma osteodysplastica 
Goodpasture syndrome 
Granulomatosis with polyangiitis 
Hashimoto-Pritzker syndrome 
Hemangiomatosis, familial pulmonary capillary 
Henoch-Schonlein purpura 
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis 
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 
Idiopathic acute eosinophilic pneumonia 
Idiopathic pulmonary fibrosis 
Idiopathic pulmonary hemosiderosis 
Intrahepatic cholestasis of pregnancy 
Jeune syndrome 
Juvenile dermatomyositis 
Juvenile polymyositis 
Kabuki syndrome 
Kaolin pneumoconiosis 
Kartagener syndrome 
Laryngoonychocutaneous syndrome - See Epidermolysis bullosa 
Lethal congenital contracture syndrome 1 
Limited cutaneous systemic sclerosis 
Limited systemic sclerosis 
Loeys-Dietz syndrome 
Loeys-Dietz syndrome type 1 
Loeys-Dietz syndrome type 2 
Loeys-Dietz syndrome type 3 
Loeys-Dietz syndrome type 4 
Lung agenesis 
Manouvrier syndrome 
Meconium aspiration syndrome 
Microphthalmia syndromic 9 
Microscopic polyangiitis 
Mixed connective tissue disease 
Mounier-Kuhn syndrome 
Multifocal fibrosclerosis 
Multisystemic smooth muscle dysfunction syndrome 
Niemann-Pick disease type B 
Nontuberculous mycobacterial lung disease 
Novak syndrome 
Occipital horn syndrome 
Orofaciodigital syndrome 4 
PAGOD syndrome 
Pallister-Killian mosaic syndrome 
Pentalogy of Cantrell 
Peroxisomal biogenesis disorders 
Pleuroparenchymal fibroelastosis 
Primary ciliary dyskinesia 
Psoriatic juvenile idiopathic arthritis 
Pulmonary alveolar microlithiasis 
Pulmonary sequestration 
Pulmonary venoocclusive disease 
Recurrent respiratory papillomatosis 
Respiratory distress syndrome, infant 
Sarcoidosis - Not a rare disease 
SCARF syndrome 
Short rib-polydactyly syndrome type 3 
Short rib-polydactyly syndrome type 1 
Short rib-polydactyly syndrome type 2 
Short rib-polydactyly syndrome type 4 
Simpson-Golabi-Behmel syndrome 
Sprengel deformity 
Sudden infant death with dysgenesis of the testes syndrome 
Systemic onset juvenile idiopathic arthritis 
Thoracic dysplasia hydrocephalus syndrome 
Thoracolaryngopelvic dysplasia 
Thoracomelic dysplasia 
Tracheal agenesis 
Tracheobronchopathia osteoplastica 
Vascular Ehlers-Danlos syndrome 
Wilson-Mikity syndrome 
Wolf-Hirschhorn syndrome 
Wrinkly skin syndrome 
Yellow nail syndrome 
Young syndrome 

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