| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Atelectasis |
OMIM:615294 |
| Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dys... |
OMIM:267450 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis |
OMIM:300455 |
| Bronchopulmonary Dysplasia |
|
Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ... |
ORPHA:70589 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Ground-glass opacification, Neonatal death, Tachypnea, Paraseptal emphysema... |
OMIM:610921 |
| Immunodeficiency 95 |
|
Recurrent viral pneumonia, Respiratory distress, Ground-glass opacification, Recurrent viral uppe... |
OMIM:619773 |
| Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... |
ORPHA:2302 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:619466 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... |
OMIM:265120 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency |
OMIM:253300 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Atelectasis, Hypoxemia, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachyp... |
ORPHA:70587 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... |
OMIM:616726 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... |
ORPHA:79126 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ... |
OMIM:263000 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:615872 |
| Meconium Aspiration Syndrome |
|
Neonatal asphyxia, Transient pulmonary infiltrates, Atelectasis, Aspiration pneumonia, Pneumothor... |
ORPHA:70588 |
| Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... |
ORPHA:922 |
| Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... |
OMIM:610913 |
| C1Q Deficiency 2 |
|
Atelectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory tract infection... |
OMIM:620321 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Generalized abnormality of skin, Parenchymal consolidation, Pleural effusion, Abnorm... |
ORPHA:2902 |
| Recurrent Respiratory Papillomatosis |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory insuf... |
ORPHA:60032 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Neonatal respiratory distress, Atelectasis, Cystic pattern on pulmonary HRCT, Ground-glass opacif... |
OMIM:610978 |
| Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Recurrent res... |
ORPHA:3348 |
| Pulmonary Blastoma |
|
Recurrent pneumonia, Pleuropulmonary blastoma, Pulmonary infiltrates |
ORPHA:64741 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Ground-glass opacification, Nodular pattern on pulmonary HRCT |
ORPHA:60026 |
| Congenital Pulmonary Airway Malformation |
|
Abnormal pleura morphology, Respiratory insufficiency |
ORPHA:2444 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia, Death in infancy |
OMIM:254120 |
| Larynx Atresia |
|
Recurrent respiratory infections, Respiratory insufficiency |
ORPHA:1202 |
| Pneumocystosis |
|
Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Pleural ef... |
ORPHA:723 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Or... |
ORPHA:2032 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Respiratory distress, Hypoxemia, Pleural effusion, Parenchymal consolidation, Pulmonar... |
ORPHA:36238 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Nasal polyposis, Neonatal respiratory distress, Recurrent sinusitis, Chronic... |
OMIM:608647 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Atelectasis |
ORPHA:896 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:613869 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pleura morphology, Pulmonary infiltrates |
ORPHA:724 |
| Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... |
ORPHA:2357 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
| Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Respiratory distress, Ground-glass opacification, Cyanosis, Tachypnea, D... |
ORPHA:91359 |
| Pulmonary Hemosiderosis |
|
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Respira... |
OMIM:178550 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneumonia |
ORPHA:90117 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory... |
OMIM:610910 |
| Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Pulmonary infiltrates, Tachypnea, D... |
ORPHA:178320 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy, Death in childhood, Respiratory insufficiency |
OMIM:618224 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia |
ORPHA:141152 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Lethargy, Death in childhood, Bradykinesia |
OMIM:618683 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Intraalveolar phospholipid accumulation, Interlobular septal thickening, Ground-glass opacificati... |
OMIM:614370 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Ground-glass opacification, Respiratory tract infection, Chronic bronchitis, Diffuse r... |
ORPHA:79127 |
| High Altitude Pulmonary Edema |
|
Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia, Pulmonary opacity |
ORPHA:330012 |
| Developmental And Epileptic Encephalopathy 71 |
|
Cheyne-Stokes respiration, Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ... |
OMIM:620296 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Acute infectious pneumonia, Dyspnea, Hypoxemia, Respiratory failure requiri... |
ORPHA:140896 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Atelectasis, Neonatal death |
OMIM:300219 |
| Primary Ciliary Dyskinesia |
|
Nasal polyposis, Neonatal respiratory distress, Atelectasis, Pulmonary situs ambiguus, Respirator... |
ORPHA:244 |
| Hereditary Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Myocardial infarction, C... |
ORPHA:132 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:616867 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... |
ORPHA:2590 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:300717 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Hypoxemia, Res... |
ORPHA:264675 |
| Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Neonatal respiratory distress, Cardiomyopathy |
ORPHA:254857 |
| Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Hyaline membranes |
OMIM:617065 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Lipoid pneumonia, Respiratory failure |
OMIM:620326 |
| Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency |
ORPHA:2111 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency |
OMIM:601612 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Intraalveolar phospholipid accumulation, Respiratory insufficiency, Death in childhood, Death in ... |
OMIM:618042 |
| Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Bronchiectasis, Respiratory insufficiency |
ORPHA:1164 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary infiltrates, Pulmonary edema, Abnormal blood gas level, Hypoxemia, Respirato... |
ORPHA:70578 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Absent outer dynei... |
OMIM:244400 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothor... |
ORPHA:1302 |
| Idiopathic Pulmonary Hemosiderosis |
|
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Nod... |
ORPHA:99931 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob... |
ORPHA:199241 |
| Early Myoclonic Encephalopathy |
|
Lethargy, Recurrent respiratory infections |
ORPHA:1935 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Death in childhood, Respiratory insufficiency |
OMIM:616081 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Apnea, Death in infancy |
OMIM:610992 |
| Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Respiratory insufficiency, Pulmonary hypoplasia |
OMIM:245650 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
| Primary Pulmonary Hypoplasia |
|
Abnormal pulmonary artery morphology, Neonatal respiratory distress, Cyanosis, Pneumothorax, Recu... |
ORPHA:2257 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Facial erythema |
OMIM:618307 |
| Laryngotracheoesophageal Cleft |
|
Dyspnea, Cyanosis, Recurrent respiratory infections, Neonatal respiratory distress |
ORPHA:2004 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Warfarin-induced skin necrosis, Pulmonary embolism |
OMIM:176860 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Recurrent pneumonia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness,... |
ORPHA:254875 |
| Bronchiolitis Obliterans |
|
Pneumonia, Ground-glass opacification, Respiratory tract infection, Bronchiolitis obliterans, Hyp... |
ORPHA:1303 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy, Central apnea, Cyanosis |
ORPHA:71277 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho... |
ORPHA:50251 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu... |
OMIM:620233 |
| Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... |
ORPHA:60033 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Intercostal retractions, Cyanosis |
ORPHA:137935 |
| Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| Congenital Myopathy 14 |
|
Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness |
OMIM:618414 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Intraalveolar phospholipid accumulation, Cyanosis |
ORPHA:747 |
| Mhc Class I Deficiency 1 |
|
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis |
OMIM:604571 |
| Interstitial Lung Disease 1 |
|
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro... |
OMIM:619611 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
| Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
| Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary venous occlusion, Interlobu... |
OMIM:265450 |
| Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Hypoxemia, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Abnormal pulmonary i... |
OMIM:612387 |
| Scedosporiosis |
|
Pneumonia, Bronchitis, Apical pulmonary opacity, Pulmonary fibrosis, Pleuritis, Respiratory failu... |
ORPHA:449280 |
| Avian Influenza |
|
Pneumonia, Respiratory distress, Ground-glass opacification, Pleural effusion, Pulmonary infiltra... |
ORPHA:454836 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
| Gaba-Transaminase Deficiency |
|
Lethargy, Death in childhood |
OMIM:613163 |
| Congenital Pulmonary Lymphangiectasia |
|
Pleural effusion, Cyanosis |
ORPHA:2414 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Lethargy, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
| Glycine Encephalopathy 1 |
|
Lethargy, Death in infancy |
OMIM:605899 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Lethargy |
ORPHA:26792 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Recurrent respiratory infections, Atelectasis, Generalized abnormality of skin |
ORPHA:2314 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... |
OMIM:254210 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy, Hypoventilation, Neonatal death |
OMIM:618232 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins... |
OMIM:615067 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
| Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... |
OMIM:607625 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Interlobular septal thickening, Ground-glass opacification, Subpleural interstitial t... |
ORPHA:60025 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Respiratory distress, Death in infancy, Lethargy, Tachypnea, Respirato... |
OMIM:614299 |
| Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Panacinar emphysema, Chronic bronchitis |
OMIM:613490 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in childhood, Death in infancy, Pulmonary hypoplasia |
OMIM:614096 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:3346 |
| Evans Syndrome |
|
Bruising susceptibility, Petechiae, Lethargy, Dyspnea, Jaundice |
ORPHA:1959 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Lethargy, Respiratory failure, Death in infancy |
OMIM:619386 |
| Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Respiratory insufficiency, Ground-glass opacification,... |
ORPHA:133 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Apnea, Respiratory failure, Respiratory insufficiency |
OMIM:610127 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Bronchiolitis |
OMIM:615993 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy |
ORPHA:79283 |
| Buerger Disease |
|
Vasculitis, Arterial occlusion, Intermittent claudication, Livedo reticularis, Raynaud phenomenon... |
ORPHA:36258 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Intraalveolar phospholipid accumulation, Spontaneous neonatal pneu... |
ORPHA:217563 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:619003 |
| Ciliary Dyskinesia, Primary, 28 |
|
Neonatal respiratory distress, Dynein arm defect of respiratory motile cilia, Recurrent sinusitis... |
OMIM:615505 |
| Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Apnea, Death in childhood |
OMIM:618225 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Lethargy, Pulmonary arterial hypertension, Death in childhood, Death in infancy |
OMIM:619064 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal lethargy, Lethargy |
OMIM:606777 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Apnea, Respiratory insufficiency |
OMIM:618228 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Respiratory failure, Death in infancy |
OMIM:616277 |
| Dengue Fever |
|
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Cardiorespiratory arrest,... |
ORPHA:99828 |
| Nephronophthisis 2 |
|
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia |
OMIM:602088 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... |
OMIM:605809 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration |
ORPHA:77260 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Bradykinesia, Depression, Apathy |
ORPHA:240085 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Nasal polyposis, Respiratory insufficiency, Recurrent sinusitis, Bronchiectasis |
OMIM:618695 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy |
ORPHA:622 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia, Pulmonary hypoplasia |
ORPHA:2140 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis, Pulmonary opacity |
ORPHA:411703 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Death in infancy, Neonatal death, Lethargy, Pulmonary arterial hyperte... |
OMIM:605711 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth |
OMIM:619751 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Pulmonary Arteriovenous Malformation |
|
Epistaxis, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient ischemic ... |
ORPHA:2038 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:266 |
| Snakebite Envenomation |
|
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Erythema, Angioe... |
ORPHA:449285 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Respiratory distress, Jaundice, Lethargy, Respiratory failure |
OMIM:250940 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Respiratory insufficiency |
ORPHA:28 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Congestive heart failure |
OMIM:616794 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Dyspnea, Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary capillary hemangio... |
OMIM:234810 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy |
OMIM:225753 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Respiratory failure, Central hypoventilation |
OMIM:619483 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Apneic episodes precipitated by illness, fatigue, stress, Lethargy, Respiratory failure |
OMIM:312170 |
| Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Neonatal death, Death in adolescence, Pleural thickening, Recurren... |
OMIM:620014 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy |
ORPHA:26 |
| Amyotrophic Lateral Sclerosis 28 |
|
Respiratory failure |
OMIM:620452 |
| Farber Disease |
|
Recurrent upper respiratory tract infections, Atelectasis, Respiratory insufficiency, Nodular pat... |
ORPHA:333 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:611890 |
| Slc35A1-Cdg |
|
Pneumonia, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Hypoxemia |
ORPHA:238459 |
| Pseudo-Torch Syndrome 2 |
|
Respiratory insufficiency, Pleural effusion, Petechiae, Bradycardia, Acute respiratory distress s... |
OMIM:617397 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Lethargy, Death in childhood |
OMIM:246900 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Neonatal death |
OMIM:610498 |
| Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... |
ORPHA:596 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Atelectasis, Respiratory insufficiency, Death in childhood, Recurrent respiratory infections, Pul... |
OMIM:618278 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy, Lethargy |
OMIM:610006 |
| Typhoid |
|
Epistaxis, Gastrointestinal hemorrhage, Lethargy, Arrhythmia, Abnormal pulmonary interstitial mor... |
ORPHA:99745 |
| Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Respiratory insufficiency, Chronic bronchitis, Respiratory insufficiency due to ... |
OMIM:616037 |
| Interstitial Lung Disease 2 |
|
Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib... |
OMIM:178500 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Progeroid facial appearance, Atelectas... |
OMIM:613177 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Respiratory failure |
ORPHA:890 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy, Apnea, Respiratory insufficiency |
OMIM:618226 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Recurrent pneumonia, Atrioventricular block, Right ve... |
ORPHA:1329 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Apnea, Death in childhood |
OMIM:611523 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Atelectasis, Respiratory insufficiency, Intercostal muscle weakness, Recurrent lower respiratory ... |
ORPHA:258 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
| Eosinophilia, Familial |
|
Recurrent bronchitis, Pulmonary infiltrates |
OMIM:131400 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
| Afibrinogenemia, Congenital |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... |
OMIM:202400 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
| Lymphangioleiomyomatosis |
|
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum... |
ORPHA:538 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Bruising susceptibility, Respiratory failure |
ORPHA:3226 |
| Hypophosphatasia |
|
Emphysema, Respiratory insufficiency |
ORPHA:436 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... |
ORPHA:51636 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
| Microphthalmia, Syndromic 12 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615524 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Dyspnea, Respiratory failure |
ORPHA:2759 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Respiratory arrest, Lethargy, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy |
OMIM:274270 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Cardiomyopathy, Death in childhood, Death in infancy, Neonatal death, Lethargy, Stillbirth, Respi... |
OMIM:614922 |
| Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Lethargy, Arrhythmia |
OMIM:602390 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism |
OMIM:612336 |
| Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ne... |
ORPHA:95430 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Exertional dyspnea, Orthopnea, Respiratory failure |
ORPHA:98913 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death |
OMIM:619334 |
| Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia |
ORPHA:171430 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N... |
OMIM:245400 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Choanal Atresia |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:137914 |
| Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Lethargy, Bradycardia |
ORPHA:95717 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Lethargy, Tachypnea, Respiratory failure, Death in childhood |
OMIM:615838 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Respiratory insufficiency, Atelectasis, Pulmonary hypoplasia |
OMIM:269860 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pulmonary edema, Hypoxemia, Pleural effusion, Respiratory failure |
ORPHA:542323 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
| Crigler-Najjar Syndrome |
|
Jaundice, Lethargy |
ORPHA:205 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
| Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Respiratory distress, Absent inner and outer dynein arms, Recurrent respiratory ... |
OMIM:606763 |
| Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Respiratory failure, Hypoxemia, Anomalous pulmonary venous return, Respiratory failure ... |
ORPHA:555874 |
| Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Respiratory tract infection, Respiratory insufficiency due to muscle w... |
ORPHA:308552 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Ground-glass opacification, Intraalveolar phospholipid accumulation |
OMIM:300770 |
| Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time, Lethargy, Jaundice, Cardiomyopathy |
OMIM:616483 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
| Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
| Riddle Syndrome |
|
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Erythema, Bronchitis, Recurrent sinusitis, Tel... |
ORPHA:420741 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis |
OMIM:306400 |
| Diffuse Alveolar Hemorrhage |
|
Ground-glass opacification, Pulmonary infiltrates, Irregular septal thickening on pulmonary HRCT,... |
ORPHA:90060 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Neonatal respiratory distress, Death in infancy |
OMIM:615042 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Lethargy |
ORPHA:289916 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Neonatal respiratory distress, Hypopnea, Respiratory distress, Apnea, Death in childhood, Death i... |
OMIM:618426 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis |
ORPHA:464453 |
| Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Acrocyanosis |
ORPHA:1867 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Cardiac arrest, Lethargy, Congestive heart failure |
ORPHA:49827 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypertrophic cardiomyopathy, Transient hyperlipidemia, Lethargy, Arrhythmia, Sudden cardiac death |
ORPHA:156 |
| Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
| Hyperlysinuria With Hyperammonemia |
|
Lethargy |
OMIM:238750 |
| Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Jaundice, Bronchiectasis, Bronchitis |
ORPHA:60 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation... |
ORPHA:99104 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
| Congenital Myopathy 10B, Mild Variant |
|
Recurrent pneumonia, Respiratory failure |
OMIM:620249 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Palpitations, Lethargy, Syncope, Tachycardia |
ORPHA:276556 |
| Lujo Hemorrhagic Fever |
|
Purpura, Atelectasis, Ecchymosis |
ORPHA:319213 |
| Fanconi Renotubular Syndrome 5 |
|
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Hyperventilation, Lethargy, Apnea |
OMIM:229700 |
| Leigh Syndrome, Nuclear |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration |
OMIM:620011 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Lethargy |
ORPHA:276608 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Respiratory arrest, Lethargy, Tachypnea, Death in infancy |
OMIM:201475 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Atelectasis, Respiratory insufficiency, Repeated pneumothoraces, Pulmona... |
ORPHA:536467 |
| Cardiomyopathy, Dilated, 2H |
|
Tachypnea, Cardiorespiratory arrest, Neonatal death |
OMIM:620203 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiomyopathy, Respiratory insufficiency, Cyanosis, Lethargy, Ventricular tachycard... |
ORPHA:159 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Atelectasis, Respiratory insufficiency, Respiratory tract infection, Respiratory insufficiency du... |
ORPHA:365 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Lethargy |
ORPHA:79312 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy, Cardiomyopathy, Respiratory insufficiency |
ORPHA:27 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Nasal polyposis, Respiratory insufficiency, Abnormal pleura morphology, Cutis marmorata, Pulmonar... |
ORPHA:183 |
| Meningococcal Meningitis |
|
Hypotension, Neonatal respiratory distress, Shock, Petechiae, Lethargy, Purpura |
ORPHA:33475 |
| Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis |
ORPHA:621 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis, Premature graying of hair |
OMIM:620365 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Palpitations, Lethargy, Syncope, Tachycardia |
ORPHA:276575 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... |
ORPHA:563 |
| Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
| Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis,... |
ORPHA:335 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... |
ORPHA:79 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis, Severely reduced left ventricula... |
ORPHA:444013 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Lethargy, Death in infancy, Irregular respiration |
OMIM:604377 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Respiratory failure, Reduced subcutaneous adipose tissue, Hypertriglyceridemia |
ORPHA:363400 |
| Meckel Syndrome 14 |
|
Pneumothorax, Cardiorespiratory arrest, Cyanosis, Pulmonary hypoplasia |
OMIM:619879 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg... |
ORPHA:99103 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Lethargy, Dilated cardiomyopathy |
ORPHA:79230 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Palpitations, Lethargy, Syncope, Tachycardia |
ORPHA:276580 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Recurrent respiratory infections, Respiratory failure |
ORPHA:98905 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Respiratory failure |
ORPHA:445038 |
| Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Prolonged PR ... |
ORPHA:99106 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Lethargy, Tachypnea |
ORPHA:79242 |
| Tularemia |
|
Pneumonia, Respiratory distress, Pleural effusion, Pulmonary infiltrates, Abnormal pulmonary thor... |
ORPHA:3392 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
ORPHA:352447 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
OMIM:620375 |
| Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Recurrent infections due to aspiration, Intercostal muscle weaknes... |
ORPHA:70 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Apnea, Respiratory failure, Central hypoventilation |
OMIM:618233 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Atrioventricular block, Cardiorespiratory arrest, Cardiomyopathy, Premature ventricu... |
OMIM:212138 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Death in infancy, Chylothorax, Respiratory failure, Death in childhood |
OMIM:620278 |
| Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Depression, Respiratory failure |
OMIM:613954 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Dilated cardiomyopathy, Respiratory insufficiency, Congestive heart failure, Lethargy, Arrhythmia... |
OMIM:609015 |
| Tetrasomy 5P |
|
Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia |
ORPHA:3309 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Pulmonary hypoplasia |
OMIM:616733 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Lethargy, Bradykinesia |
ORPHA:101150 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Respiratory distress, Nocturnal hypoventilation, Death in childhood, D... |
OMIM:211530 |
| Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Palpitations, Central... |
OMIM:620067 |
| Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Lethargy, Tachypnea |
ORPHA:765 |
| Long Qt Syndrome 13 |
|
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... |
OMIM:613485 |
| Cyclic Vomiting Syndrome |
|
Lethargy, Cardiomyopathy |
OMIM:500007 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
| Vacterl Association With Hydrocephalus |
|
Stillbirth, Respiratory failure, Respiratory insufficiency |
OMIM:276950 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Lethargy, Palpitations, Syncope |
ORPHA:324575 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Lethargy, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Respiratory distress, Episodic tachypnea, Tachypnea, Lethargy, Jaundice |
ORPHA:26793 |
| Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
| Hereditary Central Diabetes Insipidus |
|
Lethargy |
ORPHA:30925 |
| Central Diabetes Insipidus |
|
Lethargy, Depression |
ORPHA:178029 |
| Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
| Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, Dilated cardiomyopathy |
OMIM:618120 |
| Chitayat Syndrome |
|
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections |
OMIM:617180 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
| Zygomycosis |
|
Atelectasis, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumothorax, Ac... |
ORPHA:73263 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections |
OMIM:242700 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Respiratory failure, Congestive heart failure |
ORPHA:70472 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Respiratory distress, Death in infancy, Death in adolescence, Respirat... |
OMIM:615512 |
| Idiopathic Intracranial Hypertension |
|
Lethargy, Depression |
ORPHA:238624 |
| Cardiogenic Shock |
|
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... |
ORPHA:97292 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy, Tachypnea |
OMIM:237310 |
| Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis |
ORPHA:99825 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Pulmonary artery atresia, Respiratory insufficiency, Atelectasis, Pulmonary hypoplasia |
OMIM:620371 |
| Alpha-2-Plasmin Inhibitor Deficiency |
|
Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility |
OMIM:262850 |
| Cholera |
|
Aspiration pneumonia, Palmoplantar cutis laxa, Tachypnea, Lethargy, Hyperventilation, Miscarriage |
ORPHA:173 |
| Isovaleric Acidemia |
|
Lethargy, Cerebellar hemorrhage |
OMIM:243500 |
| Cirrhosis, Familial |
|
Jaundice, Lethargy, Pulmonary arterial hypertension, Hypertension |
OMIM:215600 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy |
ORPHA:927 |
| Citrullinemia Type I |
|
Lethargy, Tachypnea |
ORPHA:247525 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Erythema, Angioedema |
ORPHA:100057 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
| Laryngomalacia |
|
Respiratory distress |
OMIM:150280 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Bradykinesia |
ORPHA:240103 |
| Congenital Myasthenic Syndrome |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Cyanosis, Episodic res... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Cyanosis, Episodic res... |
ORPHA:98914 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Lethargy, Abnormal cardiac ventricular function, Cardiomyopathy |
ORPHA:2394 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Congestive heart failure, Abnormal QRS complex, Heart murmur, Cyanosis, Abnormality of blood circ... |
ORPHA:860 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Lethargy |
OMIM:212140 |
| Criss-Cross Heart |
|
Respiratory insufficiency, Supravalvular aortic stenosis, Mitral stenosis, Cyanosis, Tricuspid st... |
ORPHA:1461 |
| Malignant Atrophic Papulosis |
|
Telangiectasia of the skin, Pleural effusion, Respiratory failure |
ORPHA:679 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Death in infancy, Arrhythmia, Respiratory ... |
ORPHA:1194 |
| Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
| Classic Galactosemia |
|
Jaundice, Lethargy, Depression |
ORPHA:79239 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress, Lethargy |
ORPHA:254913 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
| Relapsing Polychondritis |
|
Erythema, Purpura, Atelectasis |
ORPHA:728 |
| Goodpasture Syndrome |
|
Reticular pattern on pulmonary HRCT, Ground-glass opacification, Pulmonary hemorrhage, Nodular pa... |
OMIM:233450 |
| Radio-Renal Syndrome |
|
Chylothorax, Respiratory distress, Pleural effusion, Dyspnea, Respiratory failure |
ORPHA:3015 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Exertional dyspnea |
ORPHA:42 |
| Brain-Lung-Thyroid Syndrome |
|
Recurrent pneumonia, Neonatal respiratory distress, Abnormal pulmonary interstitial morphology, R... |
ORPHA:209905 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Respiratory insufficiency, Mit... |
ORPHA:746 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:618186 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Neoplasm of the lung |
ORPHA:142 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... |
ORPHA:99050 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Ventilator dependence with inability to wean, Tachypnea, Respiratory failure |
OMIM:604320 |
| Propionic Acidemia |
|
Lethargy, Tachypnea, Apnea |
OMIM:606054 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Hyperlipidemia |
ORPHA:2089 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
| Spinocerebellar Ataxia Type 1 |
|
Bradykinesia, Respiratory failure, Inertia |
ORPHA:98755 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Nocturnal hypoventilation, Respiratory failure |
OMIM:603689 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:3426 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
| Geleophysic Dysplasia 3 |
|
Pneumonia, Respirato |
