Emphysema, Hereditary Pulmonary |
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Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Pulmonary Hypoplasia, Primary |
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Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Mucus Inspissation Of Respiratory Tract |
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Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Congenital Lobar Emphysema |
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Respiratory distress, Emphysema |
ORPHA:1928 |
Granulomas, Congenital Cerebral |
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Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
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Neonatal death |
OMIM:305690 |
Ciliary Dyskinesia, Primary, 29 |
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Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 21 |
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Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... |
OMIM:615294 |
Bronchopulmonary Dysplasia |
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Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Ciliary Dyskinesia, Primary, 33 |
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Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
Idiopathic Bronchiectasis |
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Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Abnormal respiratory ... |
ORPHA:60033 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
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Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... |
ORPHA:79127 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
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Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Respiratory Distress Syndrome In Premature Infants |
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Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... |
OMIM:267450 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
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Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
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Neonatal death, Bilateral lung agenesis, Respiratory insufficiency |
OMIM:601612 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
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Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Alpha-1-Antitrypsin Deficiency |
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Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... |
OMIM:613490 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
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Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Familial Nasal Acilia |
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Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Allergic Bronchopulmonary Aspergillosis |
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Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
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Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... |
OMIM:265120 |
Larsen-Like Syndrome, Lethal Type |
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Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:245650 |
Bare Lymphocyte Syndrome, Type I |
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Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
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 |
Recurrent Respiratory Papillomatosis |
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Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Sarcoidosis, Susceptibility To, 2 |
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Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Res... |
OMIM:612387 |
Alpha-1-Antitrypsin Deficiency |
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Emphysema |
ORPHA:60 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
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Emphysema |
OMIM:618307 |
Asbestos Intoxication |
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Reduced vital capacity, Lung adenocarcinoma, Reduced forced vital capacity, Nonproductive cough, ... |
ORPHA:2302 |
Cutis Laxa-Marfanoid Syndrome |
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Emphysema |
ORPHA:171719 |
Tracheobronchopathia Osteochondroplastica |
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Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
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Emphysema |
OMIM:210050 |
Lymphatic Malformation 12 |
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Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... |
OMIM:620014 |
Infant Acute Respiratory Distress Syndrome |
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Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Acute Interstitial Pneumonia |
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Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod... |
ORPHA:79126 |
Fanconi Renotubular Syndrome 5 |
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Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
Congenital Tracheomalacia |
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Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
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Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Common Variable Immunodeficiency |
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Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph... |
ORPHA:1572 |
Cutis Laxa, Autosomal Recessive, Type Ia |
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Recurrent respiratory infections, Emphysema |
OMIM:219100 |
Lymphangioleiomyomatosis |
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Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Restrictive ventilatory def... |
ORPHA:538 |
Cutis Laxa, Autosomal Dominant 1 |
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Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Sarcoidosis, Susceptibility To, 1 |
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Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Restrictive venti... |
OMIM:181000 |
Keutel Syndrome |
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Peripheral pulmonary artery stenosis, Sinusitis, Miscarriage, Pulmonary artery hypoplasia, Emphys... |
OMIM:245150 |