Emphysema, Hereditary Pulmonary |
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Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Bronchopulmonary Dysplasia |
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Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Congenital Lobar Emphysema |
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Respiratory distress, Emphysema |
ORPHA:1928 |
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 |
Alpha-1-Antitrypsin Deficiency |
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Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... |
OMIM:613490 |
Allergic Bronchopulmonary Aspergillosis |
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Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
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 |
Bare Lymphocyte Syndrome, Type I |
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Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Birt-Hogg-Dubé Syndrome |
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Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
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 |
Cutis Laxa-Marfanoid Syndrome |
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Emphysema |
ORPHA:171719 |
Mucus Inspissation Of Respiratory Tract |
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Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
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Emphysema |
OMIM:618307 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
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Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
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 |
Hypophosphatasia |
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Emphysema, Short stature, Respiratory insufficiency |
ORPHA:436 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
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Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Fanconi Renotubular Syndrome 5 |
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Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Ciliary Dyskinesia, Primary, 33 |
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Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
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 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
Meier-Gorlin Syndrome 4 |
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Birth length less than 3rd percentile, Intrauterine growth retardation, Emphysema, Short stature |
OMIM:613804 |
Familial Nasal Acilia |
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Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Recurrent Respiratory Papillomatosis |
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Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
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Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Netherton Syndrome |
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Asthma, Emphysema, Short stature, Recurrent respiratory infections |
ORPHA:634 |
Immunodeficiency 89 And Autoimmunity |
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Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in... |
OMIM:619632 |
Hypocomplementemic Urticarial Vasculitis |
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Dyspnea, Restrictive ventilatory defect, Pleural effusion, Cough, Emphysema, Airway obstruction |
ORPHA:36412 |
Congenital Tracheomalacia |
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Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Asbestos Intoxication |
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Reduced vital capacity, Lung adenocarcinoma, Reduced forced vital capacity, Nonproductive cough, ... |
ORPHA:2302 |
Tracheobronchopathia Osteochondroplastica |
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Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Meconium Aspiration Syndrome |
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Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Aspirati... |
ORPHA:70588 |
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 |
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 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
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Postnatal growth retardation, Intrauterine growth retardation, Emphysema, Short stature |
ORPHA:357074 |
Cutis Laxa, Autosomal Dominant 1 |
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Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Lymphangioleiomyomatosis |
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Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Restrictive ventilatory def... |
ORPHA:538 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Atelectasis, Hypersensitivity pneumonit... |
ORPHA:2902 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
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Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... |
OMIM:614370 |
Loeys-Dietz Syndrome 4 |
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Emphysema, Pneumothorax |
OMIM:614816 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
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Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
De Barsy Syndrome |
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Recurrent sinopulmonary infections, Short stature, Postnatal growth retardation, Intrauterine gro... |
ORPHA:2962 |
Meier-Gorlin Syndrome 6 |
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Recurrent respiratory infections, Severe short stature, Emphysema, Delayed puberty, Tracheobronch... |
OMIM:616835 |
Sarcoidosis, Susceptibility To, 1 |
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Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Restrictive venti... |
OMIM:181000 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Atelectasis, Recurrent pneumonia, Growth delay, Pulmonary hypoplasia, Tracheomalacia, Emphysema, ... |
OMIM:613177 |
Bronchogenic Cyst |
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Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronchogenic ... |
ORPHA:2357 |
Autosomal Recessive Cutis Laxa Type 1 |
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Severe short stature, Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Intrauterine ... |
ORPHA:90349 |
Nocardiosis |
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Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
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Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
Immunodeficiency 54 |
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Recurrent respiratory infections, Short stature, Postnatal growth retardation, Respiratory insuff... |
OMIM:609981 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
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Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... |
OMIM:265120 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
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Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Ellis Van Creveld Syndrome |
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Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Emphysema, Neonatal short-limb ... |
ORPHA:289 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Short stature, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, ... |
OMIM:613658 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis |
OMIM:619708 |
C1Q Deficiency 2 |
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Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Emphysema, Abnormality of the pulmonary artery |
ORPHA:363618 |
Keutel Syndrome |
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Peripheral pulmonary artery stenosis, Sinusitis, Pulmonary artery hypoplasia, Emphysema, Chronic ... |
OMIM:245150 |
Fabry Disease |
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Short stature, Dyspnea, Chronic pulmonary obstruction, Respiratory insufficiency, Delayed puberty... |
ORPHA:324 |
Meier-Gorlin Syndrome 1 |
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Respiratory distress, Intrauterine growth retardation, Emphysema, Birth length less than 3rd perc... |
OMIM:224690 |
Neonatal Marfan Syndrome |
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Neonatal respiratory distress, Emphysema, Hypoxemia |
ORPHA:284979 |
Primary Ciliary Dyskinesia |
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Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Ehlers-Danlos Syndrome, Vascular Type |
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Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
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Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
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Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Recurrent lower respiratory tra... |
OMIM:620233 |
Autosomal Dominant Cutis Laxa |
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Postnatal growth retardation, Bronchiectasis, Bronchiolitis, Intrauterine growth retardation, Emp... |
ORPHA:90348 |
Myotubular Myopathy With Abnormal Genital Development |
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Respiratory distress, Atelectasis, Neonatal death |
OMIM:300219 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm |
OMIM:614437 |
Waardenburg Syndrome Type 3 |
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Tracheomalacia, Atelectasis |
ORPHA:896 |
Ciliary Dyskinesia, Primary, 1 |
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Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... |
OMIM:244400 |
Wrinkly Skin Syndrome |
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Recurrent sinopulmonary infections, Short stature, Postnatal growth retardation, Intrauterine gro... |
ORPHA:2834 |
Sarcoidosis |
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Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Pneumothorax, Bronchiectasis, Uppe... |
ORPHA:797 |
Familial Isolated Restrictive Cardiomyopathy |
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Orthopnea, Recurrent respiratory infections, Postnatal growth retardation, Dyspnea, Pulmonary ven... |
ORPHA:75249 |
Marfan Syndrome |
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Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax |
ORPHA:558 |
Marfan Syndrome |
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Pulmonary artery dilatation, Emphysema, Pneumothorax |
OMIM:154700 |
Ciliary Dyskinesia, Primary, 20 |
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Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Unilateral lung agenesis, Proportionate short stature, Respiratory failure, Intrauterine growth r... |
ORPHA:500150 |
Autosomal Dominant Hyper-Ige Syndrome |
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Atelectasis, Recurrent respiratory infections, Cough |
ORPHA:2314 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... |
ORPHA:258 |
Viss Syndrome |
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Short stature, Dyspnea, Asthma, Pneumothorax, Pulmonary artery aneurysm, Pulmonary arterial hyper... |
OMIM:619472 |
Farber Disease |
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Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent up... |
ORPHA:333 |
Whim Syndrome |
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Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... |
ORPHA:51636 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
Short-Rib Thoracic Dysplasia 12 |
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Atelectasis, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Intrauterine growth... |
OMIM:269860 |
Granulomatous Disease, Chronic, X-Linked |
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Atelectasis, Pleural effusion, Recurrent pneumonia, Cough |
OMIM:306400 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Respira... |
ORPHA:536467 |
Lujo Hemorrhagic Fever |
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Respiratory distress, Crackles, Nonproductive cough, Atelectasis, Rhinitis |
ORPHA:319213 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory tr... |
ORPHA:365 |
Sotos Syndrome |
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Small cell lung carcinoma, Pulmonary bleb |
ORPHA:821 |
Relapsing Polychondritis |
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Dyspnea, Atelectasis, Abnormal pattern of respiration, Cough |
ORPHA:728 |
Zygomycosis |
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Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Acute infectious pneumonia, Cough, Pleural effus... |
ORPHA:73263 |
Chand Syndrome |
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Atelectasis |
ORPHA:1401 |
22Q11.2 Deletion Syndrome |
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Short stature, Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation, Intrau... |
ORPHA:567 |
Oculocerebrorenal Syndrome Of Lowe |
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Recurrent respiratory infections, Short stature, Atelectasis, Respiratory insufficiency, Delayed ... |
ORPHA:534 |
Digeorge Syndrome |
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Short stature, Atelectasis, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Recurrent... |
OMIM:188400 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Intrauterine growth retardation, Recurrent lower respiratory tract infections, Short stature |
OMIM:618005 |