Emphysema, Hereditary Pulmonary |
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Emphysema, Chronic bronchitis |
OMIM:130700 |
Congenital Lobar Emphysema |
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Emphysema |
ORPHA:1928 |
Idiopathic Bronchiectasis |
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Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... |
ORPHA:60033 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
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Emphysema, Short stature |
OMIM:210050 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
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Emphysema |
OMIM:614100 |
Birt-Hogg-Dubé Syndrome |
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Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
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Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... |
ORPHA:79127 |
Alpha-1-Antitrypsin Deficiency |
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Bronchiectasis, Panacinar emphysema, Chronic bronchitis |
OMIM:613490 |
Cutis Laxa-Marfanoid Syndrome |
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Emphysema |
ORPHA:171719 |
Bronchopulmonary Dysplasia |
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Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis |
ORPHA:70589 |
Mhc Class I Deficiency 1 |
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Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis |
OMIM:604571 |
Allergic Bronchopulmonary Aspergillosis |
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Emphysema, Bronchiectasis |
ORPHA:1164 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
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Emphysema |
OMIM:618307 |
Sarcoidosis, Susceptibility To, 2 |
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Emphysema, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary ... |
OMIM:612387 |
Hypophosphatasia |
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Emphysema, Short stature |
ORPHA:436 |
Fanconi Renotubular Syndrome 5 |
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Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
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Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
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Recurrent bronchitis, Atelectasis |
OMIM:300455 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections |
OMIM:242700 |
Meier-Gorlin Syndrome 4 |
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Emphysema, Intrauterine growth retardation, Birth length less than 3rd percentile, Short stature |
OMIM:613804 |
Ciliary Dyskinesia, Primary, 33 |
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Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... |
OMIM:616726 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
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Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:619466 |
Ciliary Dyskinesia, Primary, 21 |
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Recurrent pneumonia, Bronchiectasis, Atelectasis |
OMIM:615294 |
Alpha-1-Antitrypsin Deficiency |
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Emphysema, Bronchiectasis, Bronchitis |
ORPHA:60 |
Netherton Syndrome |
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Emphysema, Recurrent respiratory infections, Short stature |
ORPHA:634 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
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Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Ciliary Dyskinesia, Primary, 29 |
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Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:615872 |
Immunodeficiency 89 And Autoimmunity |
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Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening |
OMIM:619632 |
Hypocomplementemic Urticarial Vasculitis |
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Emphysema, Pleural effusion |
ORPHA:36412 |
Common Variable Immunodeficiency |
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Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Bronchiectasis |
ORPHA:1572 |
Respiratory Distress Syndrome In Premature Infants |
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Pulmonary edema, Atelectasis |
OMIM:267450 |
Cutis Laxa, Autosomal Recessive, Type Ia |
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Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections |
OMIM:219100 |
Familial Nasal Acilia |
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Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis |
ORPHA:922 |
Lymphangioleiomyomatosis |
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Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Recurrent resp... |
ORPHA:538 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Growth delay, ... |
OMIM:613177 |
Meier-Gorlin Syndrome 6 |
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Emphysema, Recurrent respiratory infections, Delayed puberty, Severe short stature |
OMIM:616835 |
Cutis Laxa, Autosomal Dominant 1 |
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Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis |
OMIM:123700 |
Autosomal Recessive Cutis Laxa Type 1 |
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Peripheral pulmonary artery stenosis, Recurrent pneumonia, Emphysema, Intrauterine growth retarda... |
ORPHA:90349 |
Congenital Tracheomalacia |
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Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... |
ORPHA:95430 |
Loeys-Dietz Syndrome 4 |
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Emphysema, Pneumothorax |
OMIM:614816 |
C1Q Deficiency 2 |
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Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis |
OMIM:620321 |
Meconium Aspiration Syndrome |
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Intrauterine growth retardation, Pneumothorax, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
Ellis Van Creveld Syndrome |
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Emphysema, Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs, Neonatal short-limb ... |
ORPHA:289 |
Asbestos Intoxication |
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Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... |
ORPHA:2302 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia |
OMIM:619708 |
Tracheobronchopathia Osteochondroplastica |
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Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections |
ORPHA:3348 |
Infant Acute Respiratory Distress Syndrome |
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Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis |
ORPHA:70587 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
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Bronchiolitis, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
Acute Interstitial Pneumonia |
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Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... |
ORPHA:79126 |
Recurrent Respiratory Papillomatosis |
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Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... |
ORPHA:60032 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Emphysema, Abnormality of the pulmonary artery |
ORPHA:363618 |
Bronchogenic Cyst |
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Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology |
ORPHA:2357 |
Ehlers-Danlos Syndrome, Vascular Type |
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Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR... |
OMIM:130050 |
Sarcoidosis, Susceptibility To, 1 |
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Emphysema, Pleural effusion, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Elev... |
OMIM:181000 |
Meier-Gorlin Syndrome 1 |
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Emphysema, Intrauterine growth retardation, Birth length less than 3rd percentile |
OMIM:224690 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Emphysema, Intrauterine growth retardation, Short stature, Abnormal pulmonary interstitial morpho... |
OMIM:613658 |
Autosomal Dominant Cutis Laxa |
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Peripheral pulmonary artery stenosis, Bronchiolitis, Emphysema, Postnatal growth retardation, Int... |
ORPHA:90348 |
Nocardiosis |
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Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis |
ORPHA:31204 |
Neonatal Marfan Syndrome |
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Emphysema |
ORPHA:284979 |
Fabry Disease |
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Emphysema, Delayed puberty, Short stature |
ORPHA:324 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Hypersensitivity pneumonitis, Pleural effusion, Atelectasis |
ORPHA:2902 |
Keutel Syndrome |
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Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent bronchitis |
OMIM:245150 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
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Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respiratory infections, Pulmonary fibros... |
OMIM:610978 |
Myotubular Myopathy With Abnormal Genital Development |
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Atelectasis, Neonatal death |
OMIM:300219 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Emphysema, Pulmonary artery aneurysm, Pulmonary artery dilatation, Neonatal death |
OMIM:614437 |
Waardenburg Syndrome Type 3 |
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Atelectasis |
ORPHA:896 |
Marfan Syndrome |
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Emphysema, Pneumothorax, Pulmonary artery dilatation |
OMIM:154700 |
Sarcoidosis |
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Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Pneumothorax, Abnormal lung... |
ORPHA:797 |
Primary Ciliary Dyskinesia |
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Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchovascular interstit... |
ORPHA:244 |
Marfan Syndrome |
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Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation |
ORPHA:558 |
Ciliary Dyskinesia, Primary, 1 |
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Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis |
OMIM:244400 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Emphysema, Intrauterine growth retardation, Unilateral lung agenesis, Proportionate short stature |
ORPHA:500150 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
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Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Recurrent lower respir... |
OMIM:620233 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Recurrent lower respiratory tract infections, Aspiration, Hypoventilation, Atelectasis |
ORPHA:258 |
Viss Syndrome |
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Emphysema, Pulmonary artery aneurysm, Pneumothorax, Short stature |
OMIM:619472 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
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Recurrent respiratory infections, Atelectasis |
ORPHA:2314 |
Proteus Syndrome |
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Pulmonary cyst, Bronchogenic cyst, Abnormal lung lobation, Pulmonary bulla, Neoplasm of the lung |
ORPHA:744 |
Whim Syndrome |
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Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... |
ORPHA:51636 |
Farber Disease |
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Short stature, Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT, A... |
ORPHA:333 |
Ciliary Dyskinesia, Primary, 20 |
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Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... |
OMIM:615067 |
Short-Rib Thoracic Dysplasia 12 |
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Neonatal death, Intrauterine growth retardation, Atelectasis, Pulmonary hypoplasia |
OMIM:269860 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Postnatal growth retardation, Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia |
ORPHA:536467 |
Sotos Syndrome |
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Pulmonary bleb, Small cell lung carcinoma |
ORPHA:821 |
Granulomatous Disease, Chronic, X-Linked |
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Recurrent pneumonia, Pleural effusion, Atelectasis |
OMIM:306400 |
Lujo Hemorrhagic Fever |
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Atelectasis |
ORPHA:319213 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Recurrent respiratory infections, Pulmonary fibrosis, Atelectasis |
OMIM:618278 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
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Short stature, Pulmonary artery atresia, Atelectasis, Pulmonary hypoplasia |
OMIM:620371 |
Chand Syndrome |
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Atelectasis |
ORPHA:1401 |
Zygomycosis |
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Pneumothorax, Pleural effusion, Acute infectious pneumonia, Atelectasis |
ORPHA:73263 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Respiratory tract infection, Atelectasis |
ORPHA:365 |
Oculocerebrorenal Syndrome Of Lowe |
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Short stature, Recurrent respiratory infections, Delayed puberty, Atelectasis |
ORPHA:534 |
22Q11.2 Deletion Syndrome |
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Short stature, Intrauterine growth retardation, Atelectasis, Abnormal lung lobation |
ORPHA:567 |
Relapsing Polychondritis |
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Atelectasis |
ORPHA:728 |
Digeorge Syndrome |
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Short stature, Recurrent pneumonia, Recurrent sinusitis, Atelectasis |
OMIM:188400 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Short stature, Recurrent lower respiratory tract infections, Intrauterine growth retardation |
OMIM:618005 |