| Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... |
ORPHA:70589 |
| Pulmonary Blastoma |
|
Pulmonary infiltrates, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea |
ORPHA:64741 |
| Asbestos Intoxication |
|
Reduced vital capacity, Ground-glass opacification, Reduced forced vital capacity, Respiratory fa... |
ORPHA:2302 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT |
ORPHA:60026 |
| Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Atelectasis, Chronic sinusitis, Bronchiectasis, Recurrent respirat... |
OMIM:253240 |
| Cholesterol Pneumonia |
|
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia |
OMIM:215030 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Pulmonary edema, Tachypnea, Atelectasis, Neonatal respiratory distress, Dys... |
OMIM:267450 |
| Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Chronic sinusitis, Recurrent pneumonia, Ciliary dyskinesia, Neonatal respiratory dis... |
OMIM:615294 |
| Immunodeficiency 95 |
|
Respiratory distress, Ground-glass opacification, Recurrent viral upper respiratory tract infecti... |
OMIM:619773 |
| Ciliary Dyskinesia, Primary, 29 |
|
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent respirat... |
OMIM:615872 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... |
OMIM:265120 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
| Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... |
OMIM:615067 |
| Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia, Respiratory failure |
OMIM:619887 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis, Recurrent resp... |
OMIM:619466 |
| Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Abnormal respiratory motile c... |
ORPHA:922 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Pulmonary infiltrates, Respiratory insufficiency, Abnormal pleura morphology, Cough, Restrictive ... |
ORPHA:724 |
| Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Pulmonary infiltrates, Subpleural honeycombing, Nodular pattern o... |
ORPHA:79126 |
| Ciliary Dyskinesia, Primary, 33 |
|
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Atelectasis, Recurrent bro... |
OMIM:616726 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Recurrent upper respiratory tract infe... |
ORPHA:60032 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... |
OMIM:263000 |
| Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Cyanosis, Tachypnea, Atelectasis, Respiratory tract infection, Pneumonia, Hypoxe... |
ORPHA:70587 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Death in childhood, Respiratory failure, Recurrent respiratory infections |
OMIM:253300 |
| Emphysema, Hereditary Pulmonary |
|
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema |
OMIM:130700 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Nonproductive cough, Crackles, Generalized abnormality of skin, Parenchymal consolidation... |
ORPHA:2902 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Atelectasis, Abnormal pulmonary ... |
ORPHA:70588 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... |
ORPHA:1303 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Vegetative state, Central apnea, Death in infancy, Respiratory failure |
OMIM:611722 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Diffuse reticular or f... |
ORPHA:79127 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Oxygen desaturation on exertion, Pulmonary infiltrates, Asthma, Hypoxemia, ... |
OMIM:610978 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis, Chronic sinusitis |
OMIM:300455 |
| Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Wheezing, Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Upp... |
ORPHA:3348 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Hypertension, Pulmonary arterial hypertension, Respiratory failure, Le... |
OMIM:605711 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Cyanosis, Reduced forced... |
ORPHA:91359 |
| Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis |
OMIM:219400 |
| Glaucoma-Sleep Apnea Syndrome |
|
Sleep apnea, Respiratory insufficiency |
ORPHA:2085 |
| Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Ground-glass opacification, Cough, Decreased DLCO, Intr... |
OMIM:619611 |
| Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
| Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
| Larynx Atresia |
|
Respiratory insufficiency, Recurrent respiratory infections |
ORPHA:1202 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Interstitial pneumonitis, Respiratory i... |
ORPHA:723 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ... |
OMIM:610910 |
| Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... |
OMIM:614370 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pulmonary infiltrates, Hypoxemia, Nonproductive cough, Pleural empyema, Con... |
ORPHA:36238 |
| Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
| Idiopathic Pulmonary Fibrosis |
|
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Ground... |
ORPHA:2032 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Ground-glass ... |
ORPHA:1302 |
| Pulmonary Hemosiderosis |
|
Transient pulmonary infiltrates, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, ... |
OMIM:178550 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
| Congenital Pulmonary Airway Malformation |
|
Respiratory insufficiency, Abnormal pleura morphology |
ORPHA:2444 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
| Phosphoserine Aminotransferase Deficiency |
|
Apnea, Death in infancy, Cyanotic episode |
OMIM:610992 |
| Tracheopathia Osteoplastica |
|
Dyspnea, Wheezing, Recurrent pneumonia, Cough |
OMIM:189961 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death, Congestive heart failure |
OMIM:301021 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... |
ORPHA:90117 |
| Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... |
ORPHA:264675 |
| Bronchogenic Cyst |
|
Abnormal pleura morphology, Cough, Atelectasis, Abnormal pulmonary thoracic imaging finding, Pneu... |
ORPHA:2357 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Acute Lung Injury |
|
Respiratory distress, Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Tachypne... |
ORPHA:178320 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... |
OMIM:608647 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Dyspnea, Upper airway obstruction, Respiratory distress |
ORPHA:141152 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Exertional dyspnea, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Cough, Decreased DLCO, Dyspnea, Pulmonary arterial hypertension, Pulm... |
OMIM:234810 |
| Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Intraalveolar phospholipid accumulation, Reduced ... |
OMIM:300770 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Respiratory insufficiency, Lethargy |
OMIM:618224 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Warfarin-induced skin necrosis, Pulmonary embolism |
OMIM:176860 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary infiltrates, Hypoxemia, Abnormal pulmonary interstitial morphology, Pulmonary arterial ... |
OMIM:612387 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary infiltrates, Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic... |
ORPHA:217563 |
| Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Cyanosis, Elevated pulmon... |
ORPHA:199241 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor, Recurrent respirato... |
ORPHA:2004 |
| Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Respiratory failure, Congestive heart failure, Respiratory failure requiri... |
ORPHA:132 |
| Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Ground-gla... |
ORPHA:133 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Decreased DLCO... |
ORPHA:747 |
| Obesity-Hypoventilation Syndrome |
|
Excessive daytime somnolence, Cyanosis, Hypoventilation |
OMIM:257500 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Coma, Lethargy, Confusion |
OMIM:237310 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Crackles, Reticular pattern on pulmonar... |
ORPHA:99931 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress |
OMIM:619057 |
| Lethal Infantile Mitochondrial Myopathy |
|
Neonatal respiratory distress, Cardiomyopathy, Lethargy |
ORPHA:254857 |
| Primary Ciliary Dyskinesia |
|
Airway obstruction, Anomalous pulmonary venous return, Wheezing, Chronic rhinitis, Pulmonary situ... |
ORPHA:244 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy, Lethargy |
OMIM:618228 |
| Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Interlobular septal thickening, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... |
OMIM:265450 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Lethargy, Cough |
ORPHA:163703 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Death in childhood, Hypertrophic cardiomyopathy, Bradykinesia, Lethargy |
OMIM:618683 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Confusion, Lethargy, Central apnea |
ORPHA:71277 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Coma, Palpitations, Tachycardia, Confusion, Arrhythmia, Cyanosis, Syncope, ... |
ORPHA:464453 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy,... |
OMIM:614299 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... |
ORPHA:266 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal respiratory system physiology, Abnormal pleura morphology, Cough, ... |
ORPHA:50251 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Respiratory insufficiency, Death in infancy, Recurrent respiratory infections |
ORPHA:139406 |
| Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Hypoxemia, Cyanosis, Tachypnea, Pulmonary hypoplasia, Abnormal breath sound, Restr... |
ORPHA:2257 |
| Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Pulmonary infiltrates, Pulmonary edema, Pneumonia, Hypoxemia, Dyspnea, ... |
ORPHA:70578 |
| Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Neonatal respiratory distress, Respiratory insufficiency, Respiratory tract infection |
OMIM:616326 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... |
ORPHA:411703 |
| Ciliary Dyskinesia, Primary, 1 |
|
Chronic rhinitis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Ciliary dyskinesia, Pneum... |
OMIM:244400 |
| Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure |
OMIM:616081 |
| Diffuse Alveolar Hemorrhage |
|
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Pulmonary infiltrates, Pulmona... |
ORPHA:90060 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Cystic Hamartoma Of Lung And Kidney |
|
Respiratory insufficiency, Pulmonary fibrosis, Recurrent respiratory infections |
ORPHA:2111 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... |
ORPHA:2414 |
| Ciliary Dyskinesia, Primary, 44 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... |
OMIM:618781 |
| Scedosporiosis |
|
Sinusitis, Apical pulmonary opacity, Pleural empyema, Cough, Pleuritis, Bronchitis, Respiratory f... |
ORPHA:449280 |
| Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Miscarriage, Pulmonary embolism |
ORPHA:82 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Respiratory insufficiency, Coma, Lethargy |
ORPHA:28 |
| Evans Syndrome |
|
Petechiae, Jaundice, Bruising susceptibility, Syncope, Dyspnea, Epistaxis, Lethargy |
ORPHA:1959 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Avian Influenza |
|
Respiratory distress, Pulmonary infiltrates, Miscarriage, Hypoxemia, Nonproductive cough, Ground-... |
ORPHA:454836 |
| Niemann-Pick Disease, Type B |
|
Diffuse reticular or finely nodular infiltrations, Abnormal pulmonary interstitial morphology, De... |
OMIM:607616 |
| Pulmonary Alveolar Microlithiasis |
|
Ground-glass opacification, Pneumothorax, Respiratory failure, Interlobular septal thickening, Ox... |
ORPHA:60025 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
| Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Recurren... |
OMIM:618695 |
| Ciliary Dyskinesia, Primary, 11 |
|
Chronic bronchitis, Abnormal central microtubular pair morphology of respiratory motile cilia, Re... |
OMIM:612649 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea, Lethargy |
OMIM:618225 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Death in childhood, Respiratory insufficiency, Death in adolescence, Intraalveolar phospholipid a... |
OMIM:618042 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:616867 |
| Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... |
ORPHA:2590 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension |
ORPHA:1164 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Bilateral lung agenesis, Neonatal death |
OMIM:601612 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... |
ORPHA:60033 |
| Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
| Ciliary Dyskinesia, Primary, 30 |
|
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... |
OMIM:616037 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... |
ORPHA:254875 |
| Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Respiratory distress, Recurrent respiratory infections |
OMIM:615993 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Respiratory insufficiency, Recurrent respiratory infections |
ORPHA:2432 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Lethargy |
ORPHA:26792 |
| Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Tracheomalacia |
OMIM:245650 |
| Ciliary Dyskinesia, Primary, 28 |
|
Respiratory insufficiency due to defective ciliary clearance, Rhinitis, Chronic bronchitis, Recur... |
OMIM:615505 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... |
OMIM:619751 |
| Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... |
ORPHA:95430 |
| Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Cough, Decreased DLCO, Usual interstitial pneumonia, Dyspnea, Exertional... |
OMIM:178500 |
| Laryngeal Web, Familial |
|
Respiratory distress, Recurrent upper respiratory tract infections, Stridor |
OMIM:150360 |
| Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Recurrent respiratory infections, Cough |
ORPHA:77260 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Systolic heart murmur, Elevated pulmonary artery pressure, Right b... |
ORPHA:1329 |
| Nephronophthisis-Like Nephropathy 2 |
|
Bronchiectasis, Pulmonary infiltrates, Recurrent respiratory infections, Cough |
OMIM:619468 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Ciliary Dyskinesia, Primary, 23 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... |
OMIM:615451 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect |
OMIM:614399 |
| Breath-Holding Spells |
|
Cyanosis, Loss of consciousness |
OMIM:607578 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Neonatal death, Death in infancy |
OMIM:300219 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
| Developmental And Epileptic Encephalopathy 40 |
|
Hyaline membranes, Lethargy |
OMIM:617065 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Reduced vital capacity, Cyanosis, Orthopnea, Drowsiness, Restrictive ventilatory defect, Exertion... |
ORPHA:98913 |
| Glut1 Deficiency Syndrome 1 |
|
Confusion, Paroxysmal lethargy, Lethargy |
OMIM:606777 |
| Pulmonary Arteriovenous Malformation |
|
Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Abnormal bleeding, Palpitation... |
ORPHA:2038 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Apnea, Respiratory insufficiency, Lethargy |
OMIM:618226 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Breathing dysregulation, Hypoventilation, Lethargy |
OMIM:618232 |
| Early Myoclonic Encephalopathy |
|
Lethargy, Recurrent respiratory infections |
ORPHA:1935 |
| Gaba-Transaminase Deficiency |
|
Death in childhood, Lethargy |
OMIM:613163 |
| Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy |
OMIM:225753 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:228940 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Death in childhood, Pulmonary arterial hypertension, Death in infancy, Lethargy |
OMIM:619064 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy, Lethargy |
OMIM:619386 |
| Ciliary Dyskinesia, Primary, 18 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respiratory ins... |
OMIM:614874 |
| Tricuspid Atresia |
|
Cyanosis, Pulmonary artery atresia |
ORPHA:1209 |
| Typhoid |
|
Cardiac arrest, Coma, Arrhythmia, Abnormal pulmonary interstitial morphology, Cough, Gastrointest... |
ORPHA:99745 |
| Aspergillosis |
|
Asthma, Pulmonary infiltrates, Sinusitis, Chronic pulmonary obstruction, Hypersensitivity pneumon... |
ORPHA:1163 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy, Lethargy |
OMIM:610006 |
| Waardenburg Syndrome Type 3 |
|
Atelectasis, Acrocyanosis, Tracheomalacia |
ORPHA:896 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis |
OMIM:612336 |
| Tracheal Agenesis |
|
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs |
ORPHA:3346 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Death in infancy, Hypertrophic cardiomyopathy, Respiratory failure, Bradycardia |
OMIM:616277 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis, Nasal polyposis |
OMIM:604571 |
| Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... |
ORPHA:137914 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
| Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Jaundice |
ORPHA:890 |
| Glycine Encephalopathy |
|
Death in infancy, Lethargy |
OMIM:605899 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
| Nipah Virus Disease |
|
Respiratory distress, Coma, Recurrent pharyngitis, Cough |
ORPHA:99825 |
| Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Wheezing, Cough, Bronchie... |
OMIM:613490 |
| Dengue Fever |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Hypotension, Gingival bleeding, Cardiore... |
ORPHA:99828 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
| Ciliary Dyskinesia, Primary, 26 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... |
OMIM:615500 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Confusion, Lethargy |
OMIM:617900 |
| Ciliary Dyskinesia, Primary, 27 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... |
OMIM:615504 |
| Ciliary Dyskinesia, Primary, 15 |
|
Chronic bronchitis, Abnormal axonemal organization of respiratory motile cilia, Cough, Wheezing, ... |
OMIM:613808 |
| Ciliary Dyskinesia, Primary, 32 |
|
Ciliary dyskinesia, Neonatal respiratory distress, Bronchiectasis, Immotile cilia, Recurrent resp... |
OMIM:616481 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
| Malaria |
|
Respiratory distress, Reduced consciousness/confusion |
ORPHA:673 |
| Immunodeficiency 54 |
|
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections |
OMIM:609981 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
| Eosinophilia, Familial |
|
Pulmonary infiltrates, Recurrent bronchitis |
OMIM:131400 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy |
ORPHA:79283 |
| Histiocytosis, Familial Lipochrome |
|
Pulmonary infiltrates |
OMIM:235900 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weakness |
OMIM:611890 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Respiratory failure, Death in infancy |
OMIM:617248 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy |
OMIM:604377 |
| Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pulmonary cysts, Hypo... |
ORPHA:79128 |
| Benign Samaritan Congenital Myopathy |
|
Abnormal respiratory system physiology, Lethargy |
ORPHA:324581 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
| Ciliary Dyskinesia, Primary, 9 |
|
Cough, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Pneumonia, B... |
OMIM:612444 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Ciliary dyskinesia, Immotile cilia, Bronchiectasis, Absent inner... |
OMIM:606763 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Congestive heart failure |
OMIM:616794 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Respiratory failure, Neonatal death, Death in infancy |
OMIM:619334 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... |
OMIM:616414 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Central hypoventilation, Apnea, Respiratory failure |
OMIM:619483 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Snakebite Envenomation |
|
Respiratory paralysis, Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Erythema, Cardiog... |
ORPHA:449285 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Cough, Recurrent sinusitis, Bronchiectasis, Neonatal respiratory distress, Recurrent respiratory ... |
OMIM:300991 |
| Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Neonatal respiratory dis... |
OMIM:617091 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Lymphangioleiomyomatosis |
|
Pulmonary infiltrates, Chylothorax, Cough, Atelectasis, Restrictive ventilatory defect, Emphysema... |
ORPHA:538 |
| Multiple Carboxylase Deficiency |
|
Respiratory distress, Coma, Lethargy, Tachypnea |
ORPHA:148 |
| Tularemia |
|
Respiratory distress, Pulmonary infiltrates, Confusion, Cough, Abnormal pulmonary thoracic imagin... |
ORPHA:3392 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough |
ORPHA:2314 |
| Niemann-Pick Disease, Type C2 |
|
Jaundice, Respiratory insufficiency, Death in childhood, Death in infancy, Prolonged neonatal jau... |
OMIM:607625 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Pulmonary hypoplasia, Neonatal death |
OMIM:619003 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Confusion, Lethargy |
OMIM:613002 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Coma, Delirium, Confusion, Drowsiness, Lethargy, Loss of consciousness |
ORPHA:927 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Decreased... |
OMIM:608644 |
| Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Absent inner dynein arms, Abnormal axonemal organization of respiratory motil... |
OMIM:613807 |
| Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Respiratory failure, Left ... |
ORPHA:563 |
| Afibrinogenemia, Congenital |
|
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... |
OMIM:202400 |
| Respiratory Underresponsiveness To Hypoxia And Hypercapnia |
|
Respiratory insufficiency, Respiratory failure, Hypercapnia |
OMIM:267480 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Apnea, Coma, Hyperventilation, Dyspnea, Lethargy |
OMIM:229700 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Palpitations, Tachycardia, Syncope, Hypoglycemic coma, Drowsiness, Hypertrophic cardiomyopathy, L... |
ORPHA:276556 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy |
ORPHA:622 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
| Ciliary Dyskinesia, Primary, 12 |
|
Chronic pulmonary obstruction, Abnormal central microtubular pair morphology of respiratory motil... |
OMIM:612650 |
| Spinocerebellar Ataxia, X-Linked 3 |
|
Episodic respiratory distress, Episodic hypoventilation, Death in infancy, Recurrent respiratory ... |
OMIM:301790 |
| Slc35A1-Cdg |
|
Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Pneumonia, Hypoxemia |
ORPHA:238459 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Coma, Sudden cardiac death, Arrhythmia, Transient hyperlipidemia, Hypertrophic cardiomyopathy, Le... |
ORPHA:156 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pneumonia, Transient isch... |
ORPHA:99103 |
| Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
| Mercury Poisoning |
|
Respiratory distress, Interstitial pneumonitis, Confusion, Dyspnea, Respiratory failure, Loss of ... |
ORPHA:330021 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Crackles, Reticular pattern on pulmonary HRCT, Decreased DLCO, Cough, Usual interstitial pneumoni... |
OMIM:614742 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Respiratory failure |
OMIM:313420 |
| Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Palpitations, Tachycardia, Syncope, Hypoglycemic coma, Drowsiness, Hypertrophic cardiomyopathy, L... |
ORPHA:276575 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections |
ORPHA:2759 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction |
ORPHA:100057 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy |
ORPHA:26 |
| Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Systolic heart murmur, Right bundle branch block, Atrioventricular block, Pal... |
ORPHA:99106 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea |
ORPHA:168486 |
| Nephronophthisis 2 |
|
Respiratory insufficiency, Pulmonary hypoplasia, Respiratory failure |
OMIM:602088 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Palpitations, Tachycardia, Syncope, Hypoglycemic coma, Drowsiness, Hypertrophic cardiomyopathy, L... |
ORPHA:276580 |
| Citrullinemia Type I |
|
Loss of consciousness, Coma, Lethargy, Tachypnea |
ORPHA:247525 |
| Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Coma, Lethargy |
ORPHA:289916 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Cardiomyopathy, Lethargy |
OMIM:201470 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Respiratory insufficiency, Death in childhood, Neonatal death, Death in infancy, Neonatal respira... |
OMIM:245400 |
| Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Respiratory arrest, Lethargy, Ventricular tachycardia |
OMIM:600649 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Lethargy |
OMIM:610498 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
| Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Drowsiness, Coma, Tachycardia, Lethargy |
ORPHA:276608 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pulmonary edema, Tachycardia, Confusion, Arrhythmia, Hypotension, Tachypnea, Reduced left ventric... |
ORPHA:542323 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Coma, Lethargy, Tachypnea |
ORPHA:79242 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Coma, Death in childhood, Tachypnea, Respiratory failure, Lethargy |
OMIM:615838 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Death in childhood, Respiratory insufficiency, Tachypnea, Atelectasis, Respiratory failure, Pulmo... |
OMIM:618278 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Bradykinesia |
ORPHA:240085 |
| Ciliary Dyskinesia, Primary, 22 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... |
OMIM:615444 |
| Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Petechiae, Cerebral hemorrhage, Respiratory insufficiency, P... |
OMIM:617397 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Cyanosis, Respiratory failure, Sever... |
ORPHA:444013 |
| Farber Disease |
|
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Nodular pattern on pulmo... |
ORPHA:333 |
| Scrub Typhus |
|
Abnormal bleeding, Myocarditis, Cough, Hypotension, Reduced consciousness/confusion, Restrictive ... |
ORPHA:83317 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:617895 |
| Meningococcal Meningitis |
|
Petechiae, Hypotension, Shock, Drowsiness, Purpura, Reduced consciousness/confusion, Neonatal res... |
ORPHA:33475 |
| Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Supraventricular arrhythmia, Bundle branch block, Anomalous pulmonary venous return, Left-to-righ... |
ORPHA:99104 |
| Goodpasture Syndrome |
|
Pulmonary infiltrates, Increased DLCO, Nodular pattern on pulmonary HRCT, Pulmonary hemorrhage, C... |
OMIM:233450 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Coma, Respiratory insufficiency, Cyanosis, Arrhythmia, Hypotension, Ventricular tachycardia, Sudd... |
ORPHA:159 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Palpitations, Tachycardia, Syncope, Hypoglycemic coma, Drowsiness, Lethargy, Loss of consciousness |
ORPHA:324575 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
| Developmental And Epileptic Encephalopathy 41 |
|
Lethargy |
OMIM:617105 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
| Hemochromatosis, Type 2A |
|
Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Lethargy, Congestive heart failure |
OMIM:602390 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy |
OMIM:274270 |
| Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Coma, Lethargy |
ORPHA:79312 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Coma, Lethargy, Loss of consciousness |
OMIM:307030 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Recurrent lower respiratory tract infections, Atelectasis, Aspiration,... |
ORPHA:258 |
| Lymphatic Malformation 12 |
|
Recurrent upper and lower respiratory tract infections, Pleural thickening, Death in adolescence,... |
OMIM:620014 |
| Circumvallate Placenta Syndrome |
|
Respiratory insufficiency, Intracranial hemorrhage |
OMIM:215550 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Respiratory insufficiency, Coma, Cardiomyopathy, Lethargy |
ORPHA:27 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... |
ORPHA:596 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
| Anti-Glomerular Basement Membrane Disease |
|
Respiratory insufficiency, Purpura, Pulmonary infiltrates, Cough |
ORPHA:375 |
| Congenital Fibrinogen Deficiency |
|
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... |
ORPHA:335 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Respiratory failure |
ORPHA:370968 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Delirium |
ORPHA:2596 |
| Whim Syndrome |
|
Sinusitis, Recurrent upper respiratory tract infections, Atelectasis, Recurrent pneumonia, Pneumo... |
ORPHA:51636 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dyspnea, Stridor |
ORPHA:142 |
| Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Pulmonary infiltrates, Recurrent sinopulmonary infections, Pulmonary fibrosis |
OMIM:618394 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Central hypoventilation, Apnea, Respiratory failure |
OMIM:618233 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Hyperlysinuria With Hyperammonemia |
|
Coma, Lethargy |
OMIM:238750 |
| Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis |
ORPHA:621 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress |
OMIM:615042 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bruising susceptibility, Respiratory failure, Recurrent respiratory infections |
ORPHA:3226 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Lethargy |
OMIM:246900 |
| Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Stillbirth, Respiratory failure |
OMIM:276950 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Coma, Premature ventricular contraction, Hypotension, Ventricular tachycardia, Lethargy, Cardiore... |
OMIM:212138 |
| Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Lethargy, Bradycardia |
ORPHA:95717 |
| Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
| Carnitine Deficiency, Systemic Primary |
|
Coma, Confusion, Excessive daytime somnolence, Hypertrophic cardiomyopathy, Lethargy, Congestive ... |
OMIM:212140 |
| Crigler-Najjar Syndrome |
|
Jaundice, Lethargy |
ORPHA:205 |
| Cystic Echinococcosis |
|
Asthma, Urticaria, Jaundice, Multiple pulmonary cysts, Abnormal subpleural morphology, Abnormal p... |
ORPHA:400 |
| Legionnaires Disease |
|
Pulmonary infiltrates, Respiratory insufficiency, Abnormal pleura morphology, Cough, Recurrent ph... |
ORPHA:549 |
| Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
| Immunodeficiency 27A |
|
Pulmonary infiltrates, Abnormal bronchus physiology, Pneumonia |
OMIM:209950 |
| Congenital Tricuspid Valve Dysplasia |
|
Anomalous pulmonary venous return, Cyanosis, Respiratory failure requiring assisted ventilation, ... |
ORPHA:555874 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Systolic heart murmur, Right ventricular failure, Right-to-left shunt, C... |
ORPHA:439 |
| Ciliary Dyskinesia, Primary, 38 |
|
Cough, Chronic sinusitis, Neonatal respiratory distress, Bronchiectasis, Rhinitis, Absent inner a... |
OMIM:618063 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Pulmonary infiltrates, Sinusitis, Urticaria, Recurrent intrapulmonary hemorrhage, Respira... |
ORPHA:183 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection |
OMIM:620011 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Coma, Nonproductive cough, Crackles, Confusion, Atelectasis, Drowsiness, Pu... |
ORPHA:319213 |
| Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
| Severe Congenital Nemaline Myopathy |
|
Pulmonary hypoplasia, Respiratory failure |
ORPHA:171430 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory insufficiency, Respiratory failure requiring assisted ventilati... |
ORPHA:308552 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Respiratory arrest, Sudden cardiac death, Tachypnea, Death in infancy, Hypertrophic cardiomyopath... |
OMIM:201475 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
| Encephalopathy, Recurrent, Of Childhood |
|
Lethargy |
OMIM:130950 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Sleep apnea, Respiratory insufficiency, Orthopnea, Atelectasis, Respiratory... |
ORPHA:365 |
| Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Atrioventricular block, Episodic tachypnea, Jaundice, Tachycardia, Arrhythm... |
ORPHA:26793 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Erythema, Abnormal pulmonary interstitial morphology, Recurrent sinu... |
ORPHA:420741 |
| Infantile Liver Failure Syndrome 2 |
|
Jaundice, Cardiomyopathy, Prolonged prothrombin time, Lethargy |
OMIM:616483 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:615330 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Respiratory failure, Hypertension |
ORPHA:363400 |
| Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Lethargy, Tachypnea |
ORPHA:765 |
| Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension, Jaundice, Lethargy |
OMIM:215600 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exertional dyspnea, Coma, Lethargy, Loss of consciousness |
ORPHA:42 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Central sleep apnea, Hypertrophic cardiomyopathy, Respiratory failure, Obstructive sleep apnea, C... |
ORPHA:70472 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage, Coma, Lethargy |
OMIM:243500 |
| Absence Of The Pulmonary Artery |
|
Pulmonary edema, Nonproductive cough, Systolic heart murmur, Cyanosis, Tachycardia, Orthopnea, Re... |
ORPHA:980 |
| Cardiogenic Shock |
|
Abnormal left ventricular function, Increased pulmonary capillary wedge pressure, Coma, Low pulse... |
ORPHA:97292 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Arrhythmia, Dilated cardiomyopathy, Dyspnea, Respiratory failure, Respiratory insufficiency due t... |
ORPHA:352447 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
ORPHA:79 |
| Granulomatosis With Polyangiitis |
|
Pulmonary infiltrates, Sinusitis, Respiratory insufficiency, Hemosiderin-laden macrophages in bro... |
OMIM:608710 |
| Muscular Dystrophy, Duchenne Type |
|
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG, Respiratory failure, ... |
OMIM:310200 |
| Congenital Myasthenic Syndrome |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... |
ORPHA:98914 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Paroxysmal atrial tachycardia, Lethargy, Congestive heart failure |
ORPHA:49827 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Granulomatous Disease, Chronic, X-Linked |
|
Cough, Atelectasis, Air bronchogram, Recurrent pneumonia, Pleural effusion |
OMIM:306400 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Bradykinesia |
ORPHA:240103 |
| Short-Rib Thoracic Dysplasia 12 |
|
Respiratory insufficiency, Atelectasis, Pulmonary hypoplasia, Neonatal death |
OMIM:269860 |
| Gaucher Disease, Type I |
|
Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Dyspnea, Pulmonary arterial hy... |
OMIM:230800 |
| Holocarboxylase Synthetase Deficiency |
|
Coma, Hyperventilation, Lethargy, Tachypnea |
OMIM:253270 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
| Leigh Syndrome |
|
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure |
OMIM:256000 |
| Proximal Spinal Muscular Atrophy |
|
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Restrictive ventilatory d... |
ORPHA:70 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Coma, Arrhythmia, Transient hyperlipidemia, Lethargy |
OMIM:255120 |
| Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
| Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Pulmonary hypoplasia |
OMIM:616733 |
| Tetrasomy 5P |
|
