Wiskott-Aldrich Syndrome 2 |
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Defective T cell proliferation, Reduced natural killer cell activity |
OMIM:614493 |
Immunodeficiency 20 |
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Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Recurrent s... |
OMIM:615707 |
Severe Combined Immunodeficiency, X-Linked |
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Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinemia, Decreas... |
OMIM:300400 |
Granulomas, Congenital Cerebral |
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Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
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Neonatal death |
OMIM:305690 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morphology, Abnorma... |
OMIM:613101 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Reduced natural killer cell activity |
OMIM:608898 |
Immunodeficiency 14B, Autosomal Recessive |
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Reduced natural killer cell activity, Recurrent pneumonia, Decreased circulating total IgM, Recur... |
OMIM:619281 |
Pulmonary Hypoplasia, Primary |
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Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Immunodeficiency 81 |
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Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... |
OMIM:619374 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Recurrent respiratory infections, Dysgammaglobulinemia, Reduced natural killer cell activity, Rec... |
OMIM:308240 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
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Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Deat... |
OMIM:618042 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Reduced natural killer cell activity, Recurrent upper respiratory tract infections, Absent isohem... |
OMIM:615559 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Mucus Inspissation Of Respiratory Tract |
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Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Immunoneurologic Disorder, X-Linked |
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Neonatal death, Decreased circulating IgG2 level |
OMIM:300076 |
Autoinflammation With Infantile Enterocolitis |
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Reduced natural killer cell activity, Diffuse alveolar hemorrhage |
OMIM:616050 |
Emphysema, Hereditary Pulmonary |
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Emphysema, Chronic bronchitis |
OMIM:130700 |
Ciliary Dyskinesia, Primary, 29 |
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Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 33 |
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Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
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Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Hernia, Anterior Diaphragmatic |
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Neonatal death |
OMIM:306950 |
Ciliary Dyskinesia, Primary, 21 |
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Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
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Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Familial Hemophagocytic Lymphohistiocytosis |
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Reduced natural killer cell activity, Decreased circulating antibody level |
ORPHA:540 |
Hermansky-Pudlak Syndrome 2 |
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Impaired ADP-induced platelet aggregation, Recurrent pneumonia, Pulmonary fibrosis, Reduced natur... |
OMIM:608233 |
Wiskott-Aldrich Syndrome |
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Increased circulating IgA level, Reduced natural killer cell activity, Recurrent upper respirator... |
OMIM:301000 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
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Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pu... |
OMIM:610921 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Reduced natural killer cell activity |
OMIM:603553 |
Familial Nasal Acilia |
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Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Respiratory Distress Syndrome In Premature Infants |
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Atelectasis, Pulmonary edema |
OMIM:267450 |
Bronchopulmonary Dysplasia |
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Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration |
ORPHA:70589 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Atelectasis, Pleural effusion, Increased circulating IgE level, Hypersensitivity pneumonitis |
ORPHA:2902 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
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Death in infancy, Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation,... |
OMIM:265120 |
Acute Interstitial Pneumonia |
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Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... |
ORPHA:79126 |
C1Q Deficiency 2 |
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Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
Infant Acute Respiratory Distress Syndrome |
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Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema |
ORPHA:70587 |
Myotubular Myopathy With Abnormal Genital Development |
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Neonatal death, Atelectasis, Death in infancy |
OMIM:300219 |
Asbestos Intoxication |
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Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
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Bronchiolitis, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
Tracheobronchopathia Osteochondroplastica |
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Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
Bronchogenic Cyst |
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Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Bronchogenic cyst |
ORPHA:2357 |
Recurrent Respiratory Papillomatosis |
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Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Meconium Aspiration Syndrome |
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Atelectasis, Pneumothorax, Aspiration pneumonia |
ORPHA:70588 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
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Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... |
OMIM:610978 |
Autosomal Dominant Hyper-Ige Syndrome |
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Atelectasis, Increased circulating IgE level, Recurrent respiratory infections |
ORPHA:2314 |
Primary Ciliary Dyskinesia |
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Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
Whim Syndrome |
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Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
Waardenburg Syndrome Type 3 |
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Atelectasis |
ORPHA:896 |
Ciliary Dyskinesia, Primary, 1 |
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Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Recurrent respiratory infections, Atelectasis, Pulmonary fibrosis, Death in childhood, Decreased ... |
OMIM:618278 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
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Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Recurrent lower respirat... |
OMIM:620233 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Death in infancy, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Death in childhood, Emp... |
OMIM:613177 |
Granulomatous Disease, Chronic, X-Linked |
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Atelectasis, Pleural effusion, Recurrent pneumonia, Impaired oxidative burst |
OMIM:306400 |
Farber Disease |
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Atelectasis, Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT |
ORPHA:333 |
Short-Rib Thoracic Dysplasia 12 |
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Neonatal death, Atelectasis, Pulmonary hypoplasia |
OMIM:269860 |
Lymphangioleiomyomatosis |
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Recurrent respiratory infections, Atelectasis, Pneumothorax, Chylothorax, Emphysema, Pulmonary ly... |
ORPHA:538 |
Ciliary Dyskinesia, Primary, 20 |
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Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces |
ORPHA:536467 |
Lujo Hemorrhagic Fever |
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Atelectasis |
ORPHA:319213 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Atelectasis, Recurrent lower respiratory tract infections |
ORPHA:258 |
22Q11.2 Deletion Syndrome |
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Atelectasis, Abnormal lung lobation, Impaired T cell function |
ORPHA:567 |
Zygomycosis |
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Acute infectious pneumonia, Atelectasis, Pleural effusion, Pneumothorax |
ORPHA:73263 |
Oculocerebrorenal Syndrome Of Lowe |
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Atelectasis, Recurrent respiratory infections, Death in infancy |
ORPHA:534 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Respiratory tract infection, Atelectasis |
ORPHA:365 |
Chand Syndrome |
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Atelectasis |
ORPHA:1401 |
Digeorge Syndrome |
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Atelectasis, Recurrent pneumonia, Impaired T cell function, Recurrent sinusitis |
OMIM:188400 |
Relapsing Polychondritis |
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Atelectasis |
ORPHA:728 |