Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Bronchopulmonary Dysplasia |
|
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
Asbestos Intoxication |
|
Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive ventilatory de... |
ORPHA:2302 |
Acute Interstitial Pneumonia |
|
Crackles, Respiratory failure, Elevated circulating C-reactive protein concentration, Reticulonod... |
ORPHA:79126 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Death in infancy, Nonspecif... |
OMIM:610921 |
Pulmonary Blastoma |
|
Cough, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma |
ORPHA:64741 |
Cholesterol Pneumonia |
|
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis |
OMIM:215030 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Death in infancy, Tachypnea... |
OMIM:265120 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Recurrent upper re... |
OMIM:263000 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough |
ORPHA:60026 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneu... |
ORPHA:2902 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... |
OMIM:267450 |
Ciliary Dyskinesia, Primary, 29 |
|
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... |
OMIM:615872 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Cyanosis, Respirat... |
ORPHA:70587 |
Recurrent Respiratory Papillomatosis |
|
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... |
ORPHA:60032 |
Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615067 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency |
OMIM:253300 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Meconium Aspiration Syndrome |
|
Wheezing, Hypoxemia, Atelectasis, Transient pulmonary infiltrates, Pneumothorax, Pulmonary arteri... |
ORPHA:70588 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology, Bronchiectasis, Chronic rhinitis, Chronic sinusiti... |
ORPHA:922 |
Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Cough, Recurrent lowe... |
OMIM:616726 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Elevated bronchoalveolar... |
OMIM:610978 |
Cryptogenic Organizing Pneumonia |
|
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Ground-glass opacification, ... |
ORPHA:1302 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Chronic sinusitis, Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Lung abscess, Pneumonia, Cough, Cyanosis, Recurrent respiratory infections, Decreased ... |
OMIM:610910 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Wheezing, Hypoxemia, Honeycomb lung, Chronic pulmonary obstruction, Chronic bronchitis, Bronchiec... |
ORPHA:79127 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Abnorma... |
ORPHA:724 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Cough, Respiratory failure, Dyspnea, Respirat... |
ORPHA:90117 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Tracheobronchopathia Osteochondroplastica |
|
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... |
ORPHA:3348 |
Acute Lung Injury |
|
Hypoxemia, Increased circulating surfactant protein level, Pneumonia, Tachypnea, Respiratory dist... |
ORPHA:178320 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Elevated carci... |
ORPHA:264675 |
Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema |
OMIM:130700 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Combined cyst... |
ORPHA:723 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiolitis obliterans, Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, B... |
ORPHA:1303 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Rowley-Rosenberg Syndrome |
|
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis, Reduced subcutaneous adipose t... |
OMIM:268500 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Larynx Atresia |
|
Recurrent respiratory infections, Respiratory insufficiency |
ORPHA:1202 |
Pleural Mesothelioma |
|
Abnormal respiratory system physiology, Cough, Respiratory distress, Abnormal lung morphology, Ab... |
ORPHA:50251 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Elevated circulating creatine kinase concentration, Bronchiolitis, Exertional dyspnea, Pulmonary ... |
ORPHA:254361 |
Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Pulmonary pneumatocele, Cough, Pleural empyema, Re... |
ORPHA:36238 |
Apnea, Central Sleep |
|
Abnormal pattern of respiration, Cyanosis, Sleep apnea, Lactic acidosis, Irregular respiration |
OMIM:207720 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Neonatal death, Pulmonary arterial hypertension, Elevated lactate:... |
OMIM:619003 |
Adult Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Diabetic ketoacidosis, Abnormal blood gas level, Pulmonary edema, Pulmonary... |
ORPHA:70578 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Crackles, Cough, Cyanosis, Decreased DLCO, Abnormal circulating ... |
ORPHA:747 |
Tracheopathia Osteoplastica |
|
Wheezing, Dyspnea, Recurrent pneumonia, Cough |
OMIM:189961 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... |
ORPHA:140896 |
Bronchogenic Cyst |
|
Pneumonia, Bronchogenic cyst, Cough, Pulmonary cyst, Abnormal pleura morphology, Dyspnea, Abnorma... |
ORPHA:2357 |
Congenital Pulmonary Airway Malformation |
|
Respiratory insufficiency, Abnormal pleura morphology |
ORPHA:2444 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Increased serum lactate, Respiratory distress, Cyanosis, Metabolic acidosis, Lactic acidosis |
ORPHA:91130 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased serum pyruvate, Neonatal respiratory distress, Increased serum lactate |
OMIM:619062 |
Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... |
ORPHA:60033 |
Alpha-1-Antitrypsin Deficiency |
|
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea |
OMIM:613490 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Bronchiolitis |
OMIM:615993 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Stridor, Cough, Aspiration, Recurrent respiratory infections, Cyan... |
ORPHA:2004 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death, Metabolic acidosis |
OMIM:301021 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmo... |
ORPHA:199241 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia |
OMIM:619057 |
Cyanosis And Hepatic Disease |
|
Cyanosis, Dyspnea |
OMIM:219400 |
Idiopathic Pulmonary Fibrosis |
|
Honeycomb lung, Crackles, Bronchiectasis, Ground-glass opacification, Cough, Exertional dyspnea, ... |
ORPHA:2032 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory failure, Respiratory insufficiency |
OMIM:208081 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Cough, Abnormal pattern of respiration |
ORPHA:77260 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... |
OMIM:614370 |
Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Crackles, Ground-glass opacification, Cough, Pulmonary infiltrate... |
ORPHA:99931 |
Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... |
OMIM:612387 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Increased serum pyruvate, Increased serum lactate, Severe lactic acidosis |
OMIM:616794 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Cough, Pulmonary hemorrhage, A... |
OMIM:616414 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... |
ORPHA:411703 |
Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Neonatal respiratory distress, Pulmonary situs ambiguus, Bronchiectas... |
ORPHA:244 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... |
OMIM:234810 |
Congenital Pulmonary Lymphangiectasia |
|
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Respiratory distress, Cyan... |
ORPHA:2414 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Interstitial Lung Disease 2 |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... |
OMIM:178500 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
Pulmonary Hemosiderosis |
|
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... |
OMIM:178550 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Abnormal respiratory system physiology, Respiratory insufficiency, Elevated circulating creatine ... |
ORPHA:266 |
Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Apnea, ... |
ORPHA:2257 |
Pulmonary Alveolar Microlithiasis |
|
Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect, Respiratory failure, Incr... |
ORPHA:60025 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... |
ORPHA:254875 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Increased serum lactate, Respiratory insufficiency, Increased serum pyruvate |
ORPHA:238329 |
Avian Influenza |
|
Productive cough, Hypoxemia, Hypoalbuminemia, Pneumonia, Tachypnea, Pneumothorax, Elevated circul... |
ORPHA:454836 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Lactic acidosis, Pulmonary hypoplasia, Increased serum lactate |
OMIM:614096 |
Encephalopathy Due To Prosaposin Deficiency |
|
Recurrent respiratory infections, Death in infancy, Respiratory insufficiency |
ORPHA:139406 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Metabolic acidosis, Increased serum lactate, Respiratory insufficiency |
OMIM:618252 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema |
ORPHA:1164 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Tachypnea, Ground-glass opacification, Decreased ... |
OMIM:300770 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress |
OMIM:614399 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency, Elevated circulating creatine kinase conce... |
OMIM:613869 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Diffuse Alveolar Hemorrhage |
|
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Elevated circulating creatinine concent... |
ORPHA:90060 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Lactic acidosis, Death in infancy, Increased serum lactate |
OMIM:604377 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Tachypnea, Ground-glass opacification, Cough, Respiratory distress, Cyanosis, Intercos... |
ORPHA:91359 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... |
ORPHA:133 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Recurrent respi... |
OMIM:607616 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Laryngotracheal Angioma |
|
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions |
ORPHA:137935 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... |
ORPHA:2590 |
Scedosporiosis |
|
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Pleuritis, ... |
ORPHA:449280 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Recurrent respiratory infections, Respiratory insufficiency |
ORPHA:2432 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Death in infancy, Apnea, Metabolic acidosis |
OMIM:618235 |
Ciliary Dyskinesia, Primary, 1 |
|
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Absent outer dynein arms, Chroni... |
OMIM:244400 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... |
ORPHA:217563 |
Choanal Atresia |
|
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Abnormal nasal mucus... |
ORPHA:137914 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperamylasemia, Death in infancy, Elevated circulating creatine kinase concentration, Increased ... |
OMIM:619386 |
Nephronophthisis 2 |
|
Hyperkalemia, Respiratory insufficiency, Elevated circulating creatinine concentration, Hyperkale... |
OMIM:602088 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Slc35A1-Cdg |
|
Hypoxemia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Respiratory distress |
ORPHA:238459 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory failure, Lactic acidosis, Pulmonary arterial hypertension, Respiratory insufficiency |
OMIM:605711 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency |
OMIM:616081 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Epilepsy, Pyridoxine-Dependent |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:266100 |
Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis |
ORPHA:2111 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Bronchiectasis, Re... |
OMIM:618781 |
Congenital Tracheomalacia |
|
Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... |
ORPHA:95430 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Death in infancy, Respiratory insufficiency, Neonatal death, Death... |
OMIM:245400 |
Ciliary Dyskinesia, Primary, 2 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Absent inner and outer dynein arms, Respiratory di... |
OMIM:606763 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Laryngeal Web, Familial |
|
Respiratory distress, Recurrent upper respiratory tract infections, Stridor |
OMIM:150360 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Respiratory failure, Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:616867 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:1832 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Elevated circulating creatinine concentration, Pulmonary hypoplasia |
OMIM:616733 |
3-Methylglutaconic Aciduria, Type Viii |
|
Respiratory failure, Apnea, Increased serum lactate, Death in infancy |
OMIM:617248 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:604801 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Jaundice |
ORPHA:60 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Nasal polypo... |
OMIM:618695 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Neonatal death, Respiratory insufficiency |
OMIM:601612 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Lactic acidosis |
OMIM:615595 |
Fanconi Renotubular Syndrome 5 |
|
Hyperchloremic metabolic acidosis, Lung adenocarcinoma, Hypophosphatemia, Pulmonary fibrosis, Dec... |
OMIM:618913 |
Ciliary Dyskinesia, Primary, 30 |
|
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory in... |
OMIM:616037 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory failure, Lactic acidosis, Death in infancy, Respiratory insufficiency |
OMIM:614299 |
Succinic Acidemia |
|
Respiratory distress, Lactic acidosis |
OMIM:600335 |
Immunodeficiency 54 |
|
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency |
OMIM:609981 |
Chitayat Syndrome |
|
Respiratory distress, Abnormal pulmonary interstitial morphology, Tracheomalacia, Recurrent respi... |
OMIM:617180 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Severe lactic acidosis, Mildly elevated creatine kinase, Respiratory distress, Ventilator depende... |
ORPHA:254864 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Metabolic acidosis, Apnea, Respiratory insufficiency |
OMIM:617290 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Lactic acidosis, Increased serum lactate, Increased serum pyruvate |
OMIM:614741 |
Nephronophthisis-Like Nephropathy 2 |
|
Bronchiectasis, Elevated circulating creatinine concentration, Cough, Pulmonary infiltrates, Recu... |
OMIM:619468 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy |
OMIM:225753 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Interlobular septal thickening, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... |
OMIM:265450 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Anaplastic Thyroid Carcinoma |
|
Neoplasm of the lung, Stridor, Cough, Upper airway obstruction, Respiratory distress, Dyspnea |
ORPHA:142 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Respiratory distress, Dyspnea, Recurrent respiratory infections |
ORPHA:2759 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Diarrhea 12, With Microvillus Atrophy |
|
Metabolic acidosis, Respiratory tract infection, Bronchiectasis |
OMIM:619445 |
Lymphangioleiomyomatosis |
|
Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Recurrent respiratory infections, Pulmonary ... |
ORPHA:538 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:245650 |
Nipah Virus Disease |
|
Recurrent pharyngitis, Respiratory distress, Cough |
ORPHA:99825 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Increased total bilirubin, Jaundice |
ORPHA:890 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory failure, Neonatal death, Apnea, Respiratory insufficiency |
OMIM:610127 |
Ciliary Dyskinesia, Primary, 23 |
|
Productive cough, Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchie... |
OMIM:615451 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Facial erythema |
OMIM:618307 |
Cutis Laxa, Autosomal Dominant 1 |
|
Progeroid facial appearance, Prematurely aged appearance, Emphysema |
OMIM:123700 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Restrictive ventilatory defect, Increased serum lactate, Mildly elevated creatine kinase |
ORPHA:457050 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Lactic acidosis, Death in infancy |
OMIM:618240 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Neonatal death |
OMIM:611890 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Ciliary Dyskinesia, Primary, 18 |
|
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Rhinitis, Respiratory insuffic... |
OMIM:614874 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:3346 |
Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Chronic rh... |
OMIM:612649 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Generalized abnormality of skin, Recurrent respiratory infections, Cough, Atelectasis |
ORPHA:2314 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Tracheomalacia, Atelectasis |
ORPHA:896 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema |
OMIM:604571 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Increased serum lactate, Hyperammonemia, Metabolic acidosis, Respiratory failur... |
OMIM:610678 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Tachypnea, Elevated circulating creatinine concentration, Hyperbilirubinemia, Pulmonar... |
ORPHA:542323 |
Hypophosphatasia |
|
Hypercalcemia, Emphysema, Respiratory insufficiency |
ORPHA:436 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... |
OMIM:254210 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Abnormal breath sound, Crackles, Cough, Increased circulating ferritin concentration, Abnormal pl... |
ORPHA:210136 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Metabolic acidosis, Respiratory distress, Elevated circulating acylcarnitine concentration |
ORPHA:26792 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Obstructive sleep apnea, Increased serum lactate, Central sleep apnea, Metabolic acidosis, Respir... |
ORPHA:70472 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Lactic acidosis, Respiratory insufficiency, Metabolic acidosis |
OMIM:615330 |
Ciliary Dyskinesia, Primary, 26 |
|
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, ... |
OMIM:615500 |
Mitochondrial Phosphate Carrier Deficiency |
|
Metabolic acidosis, Cyanosis, Lactic acidosis, Respiratory insufficiency |
OMIM:610773 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
|
Recurrent respiratory infections, Respiratory insufficiency, Intraalveolar phospholipid accumulation |
OMIM:618042 |
Tularemia |
|
Pneumonia, Abnormal pulmonary thoracic imaging finding, Cough, Respiratory distress, Pulmonary in... |
ORPHA:3392 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Elevated circulating creatine kinase concentration, Apnea, Central... |
ORPHA:168486 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Increased serum lactate |
OMIM:616209 |
Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent resp... |
OMIM:616481 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Acquired Methemoglobinemia |
|
Hypoxemia, Respiratory distress, Cyanosis, Dyspnea, Acidosis |
ORPHA:464453 |
Mercury Poisoning |
|
Hypokalemia, Interstitial pneumonitis, Respiratory distress, Respiratory failure, Dyspnea |
ORPHA:330021 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Obstructive sleep apnea, Crackles, Cough, Reticular pattern on pulmonary HRCT, Decreased DLCO, Pu... |
OMIM:614742 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Neonatal death, Death in infancy, Atelectasis |
OMIM:300219 |
Ciliary Dyskinesia, Primary, 15 |
|
Wheezing, Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, ... |
OMIM:613808 |
Tricuspid Atresia |
|
Cyanosis, Pulmonary artery atresia |
ORPHA:1209 |
Pulmonary Arteriovenous Malformation |
|
Hypoxemia, Telangiectasia, Epistaxis, Pulmonary arterial hypertension, Cough, Pulmonary hemorrhag... |
ORPHA:2038 |
Aspergillosis |
|
Sinusitis, Chronic pulmonary obstruction, Pneumonia, Bronchiectasis, Ground-glass opacification, ... |
ORPHA:1163 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress, Pulmonary hypoplasia |
OMIM:617895 |
Goodpasture Syndrome |
|
Hemosiderin-laden macrophages in bronchoalveolar fluid, Bloody bronchoalveolar lavage fluid, Crac... |
OMIM:233450 |
Lymphoid Interstitial Pneumonia |
|
Wheezing, Hypoxemia, Subpleural interstitial thickening, Crackles, Bronchiectasis, Centrilobular ... |
ORPHA:79128 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... |
OMIM:605809 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Increased serum lactate, Hyperalaninemia |
OMIM:618250 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Neonatal respiratory distress, Bronchiectasis, Cough, Recurrent respiratory infections, Recurrent... |
OMIM:300991 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Respiratory insufficiency due to muscle weakness, Increased serum lactate |
OMIM:300816 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Respiratory distress, Elevated circulating glutaric acid concentration, Pulmonary... |
OMIM:231680 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Restrictive ventilatory defect, Exertional dyspnea, Cyanosis, Orthopnea, Reduced vital capacity, ... |
ORPHA:98913 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Increased serum lactate |
OMIM:616277 |
Farber Disease |
|
Respiratory insufficiency, Respiratory distress, Recurrent upper respiratory tract infections, Di... |
ORPHA:333 |
Primary Effusion Lymphoma |
|
Dyspnea, Pleural effusion |
ORPHA:48686 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Elevated circulating creatine kinase concentration, Respiratory insuff... |
ORPHA:308552 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Respiratory insufficiency, Elevated circulating creatine kinase concentration |
ORPHA:370968 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Leigh Syndrome |
|
Respiratory insufficiency, Abnormal pattern of respiration, Increased serum lactate, Respiratory ... |
OMIM:256000 |
Ciliary Dyskinesia, Primary, 14 |
|
Wheezing, Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, ... |
OMIM:613807 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Episodic respiratory distress, Abnormal pattern of respiration, Tachypnea, Cyanosis... |
ORPHA:31826 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Absent cen... |
OMIM:617091 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Highly elevated creatine kinase, Intercostal muscle weakness, Respiratory insufficiency, Pulmonar... |
ORPHA:258 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Stridor, Respiratory insufficiency, Respiratory distress, Recurrent respiratory infections, Noctu... |
OMIM:211530 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Recurrent respiratory infections, Increased serum lactate, Hyperglycinemia |
OMIM:619063 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory failure, Neonatal death, Respiratory insufficiency |
OMIM:228940 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Metabolic acidosis, Respiratory insufficiency |
OMIM:618224 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakness, Increased serum... |
ORPHA:663 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Paroxysmal dyspnea, Stridor, Cyanosis, Respiratory failure, Lactic acidosis |
ORPHA:444013 |
Malaria |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Metabolic acidosis, Lactic acidosis, Respiratory failure requiring assisted ventilation |
OMIM:618776 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Ketoacidosis, Elevated lactate:pyruvate ratio, Increased serum lactate, Hyperalaninemia, Elevated... |
OMIM:614582 |
Congenital Myasthenic Syndrome |
|
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... |
ORPHA:98914 |
Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Respi... |
ORPHA:70 |
Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Cyanosis, Apnea |
OMIM:240200 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Locked-In Syndrome |
|
Recurrent respiratory infections, Respiratory insufficiency |
ORPHA:2406 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Elevated circulating creatine kinase concentration, Respiratory insuff... |
ORPHA:365 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Recurrent respiratory infections, Bruising susceptibility |
ORPHA:3226 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Tachypnea, Cyanosis, Anomalous pulmonary venous return, Respiratory failure, Respirato... |
ORPHA:555874 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum lactate, Hyperammonemia, Hyperalaninemia, Episodic tachypnea, Elevated circulatin... |
OMIM:615160 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Mitochondrial Complex I Deficiency, Nuclear Type 24 |
|
Increased serum lactate |
OMIM:618245 |
Malignant Hyperthermia, Susceptibility To, 4 |
|
Acidosis |
OMIM:600467 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Increased serum lactate |
OMIM:619224 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Lactic acidosis, Apnea, Increased serum lactate, Respiratory insufficiency |
OMIM:614462 |
Oxoglutarate Dehydrogenase Deficiency |
|
Metabolic acidosis, Congenital lactic acidosis, Increased serum lactate, Death in childhood |
OMIM:203740 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Elevated circulating creatine kinase concentration, Respiratory distress, Neonatal respiratory di... |
OMIM:615042 |
Double Outlet Right Ventricle |
|
Tachypnea, Cyanosis, Pulmonary artery atresia, Hypocalcemia |
ORPHA:3426 |
Riddle Syndrome |
|
Telangiectasia, Pneumonia, Chronic sinusitis, Conjunctival telangiectasia, Erythema, Respiratory ... |
ORPHA:420741 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Apneic episodes precipitated by illness, fatigue, stress, Severe lactic acidosis, Chronic lactic ... |
OMIM:312170 |
Interstitial Lung And Liver Disease |
|
Hypoxemia, Respiratory insufficiency, Lactic acidosis, Cough, Hyperammonemia, Abnormal pulmonary ... |
OMIM:615486 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Bronchiectasis, Respiratory tract infection, Recurrent upper respiratory tr... |
ORPHA:51636 |
Combined Oxidative Phosphorylation Deficiency 44 |
|
Increased serum lactate |
OMIM:618855 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Pneumonia, Tachypnea, Elevated circulating creatine kinase concentration, Hypera... |
ORPHA:26793 |
Mitochondrial Myopathy, Infantile, Transient |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:500009 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Lactic acidosis, Increased serum lactate, Respiratory insufficiency, Hyperalaninemia |
OMIM:614654 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Respiratory insufficiency, Cough, Recurrent intrapulmonary hemorrhage, Acrocyanosis, U... |
ORPHA:183 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Lactic acidosis, Increased serum lactate |
OMIM:615838 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia |
ORPHA:171430 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, Respiratory distress, Cyanosis, Recurrent respiratory infections... |
ORPHA:3309 |
Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Neonatal death, Death in infancy, Death in childhood |
OMIM:619334 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea, Low plasma citrulline, Lactic acidosis |
OMIM:261680 |
Sengers Syndrome |
|
Exercise-induced lactic acidemia, Increased serum lactate, Respiratory insufficiency |
OMIM:212350 |
Congenital Tracheal Stenosis |
|
Wheezing, Pulmonary artery atresia, Abnormal lung lobation, Upper airway obstruction, Respiratory... |
ORPHA:141127 |
Cholera |
|
Hyponatremia, Palmoplantar cutis laxa, Hypokalemia, Tachypnea, Hypocalcemia, Lactic acidosis, Aci... |
ORPHA:173 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Lactic acidosis, Apnea, Increased serum lactate |
OMIM:618236 |
3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax, Increased serum lactate |
ORPHA:445038 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Lactic acidosis, Increased serum lactate, Respiratory insufficiency |
OMIM:618230 |
Histiocytosis, Familial Lipochrome |
|
Pulmonary infiltrates, Increased alpha-globulin |
OMIM:235900 |
Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Neonatal death, Apnea, Erythema, Hyperammonemia, Hypoglutaminemia,... |
OMIM:610015 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory failure, Dyspnea, Respiratory insufficiency due to muscle weakness, Elevated circulat... |
ORPHA:352447 |
Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:600333 |
Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Recurrent lower respiratory tract infections, Pleural thickening, Asthma, Pulmona... |
OMIM:619632 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Respiratory insufficiency, Pulmonary arterial hypertension, Hyperuricemia, Hypomagn... |
OMIM:613845 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Lactic acidosis, Increased serum lactate, Respiratory insufficiency |
OMIM:618378 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Central hypoventilation, Apnea |
OMIM:619483 |
Lipoyltransferase 1 Deficiency |
|
Death in infancy, Pulmonary arterial hypertension, Increased serum lactate, Increased total bilir... |
OMIM:616299 |
Yellow Nail Syndrome |
|
Sinusitis, Neoplasm of the lung, Bronchiectasis, Rhinitis, Pulmonary arterial hypertension, Pleur... |
ORPHA:662 |
Leukodystrophy, Hypomyelinating, 17 |
|
Respiratory distress |
OMIM:618006 |
Odontochondrodysplasia 1 |
|
Death in infancy, Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:184260 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Lactic acidosis, Respiratory insufficiency |
OMIM:618243 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Absence Of The Pulmonary Artery |
|
Hypocapnia, Bronchiectasis, Pulmonary arterial hypertension, Cyanosis, Pulmonary edema, Recurrent... |
ORPHA:980 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pulmonary edema |
OMIM:617300 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Respiratory failure, Lactic acidosis, Death in infancy, Increased serum lactate |
OMIM:617186 |
Pontocerebellar Hypoplasia, Type 6 |
|
Apnea, Increased serum lactate, Death in childhood |
OMIM:611523 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Decreased plasma free carnitine, Apnea, Increased serum lactate, Hyperalaninemia, Metabolic acidosis |
OMIM:619048 |
Immunodeficiency 27A |
|
Pulmonary infiltrates, Abnormal bronchus physiology, Pneumonia, Hypoalbuminemia |
OMIM:209950 |
Developmental And Epileptic Encephalopathy 53 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate |
OMIM:617389 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Geleophysic Dysplasia 3 |
|
Respiratory failure, Pneumonia, Dyspnea, Sleep apnea |
OMIM:617809 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Ecchymosis, Pneumonia, Tachypnea, Elevated circulating creatine kinase concentration, ... |
ORPHA:36234 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Respiratory failure, Nocturnal hypoventilation, Reduced vital capacity, Elevated circulating crea... |
OMIM:603689 |
Legionnaires Disease |
|
Hyponatremia, Respiratory insufficiency, Cough, Pulmonary infiltrates, Abnormal lung morphology, ... |
ORPHA:549 |
Radio-Renal Syndrome |
|
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax |
ORPHA:3015 |
Lujo Hemorrhagic Fever |
|
Ecchymosis, Crackles, Rhinitis, Respiratory distress, Purpura, Nonproductive cough, Metabolic aci... |
ORPHA:319213 |
Zygomycosis |
|
Sinusitis, Ketoacidosis, Pneumothorax, Epistaxis, Rhinorrhea, Cough, Pulmonary infiltrates, Acute... |
ORPHA:73263 |
Leigh Syndrome With Leukodystrophy |
|
Apnea, Acidosis, Increased serum lactate |
ORPHA:255241 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Increased level of L-glutamic acid in blood, Hyperammonemia |
OMIM:237310 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Wheezing, Hyponatremia, Hyperkalemia, Recurrent upper and lower respiratory tract infections, Cou... |
ORPHA:171876 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Apneic episodes in infancy, Neonatal hyperbilirubinemia, Intermittent lactic acidemia, Lactic aci... |
ORPHA:348 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Angioedema, Respiratory distress, Erythema, Upper airway obstruction |
ORPHA:100057 |
Atrial Septal Defect, Ostium Primum Type |
|
Pulmonary artery dilatation, Abnormal respiratory system physiology, Tachypnea, Pulmonary arteria... |
ORPHA:99106 |
Brain-Lung-Thyroid Syndrome |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Respiratory distress, Abnormal pu... |
ORPHA:209905 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:613954 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachypnea, Hypoxemia, Cyanosis, Anomalous pulmonary venous return |
ORPHA:860 |
Multiple Carboxylase Deficiency |
|
Tachypnea, Respiratory distress, Metabolic ketoacidosis, Hyperammonemia |
ORPHA:148 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Increased serum lactate, Respiratory insufficiency |
OMIM:616276 |
Snakebite Envenomation |
|
Ecchymosis, Hyponatremia, Angioedema, Epistaxis, Respiratory paralysis, Erythema, Respiratory fai... |
ORPHA:449285 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Recurrent aspiration pneumonia, Increased serum lactate, Congenita... |
ORPHA:79243 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death |
OMIM:300076 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Pulmonary arterial hypertension, Exertional dyspnea, Cyanosis, Anomalous pulmonary ven... |
ORPHA:99104 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure, Reduced subcutaneous adipose tissue, Hypertriglyceridemia |
ORPHA:363400 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Central hypoventilation, Apnea |
OMIM:618233 |
Complete Atrioventricular Septal Defect |
|
Wheezing, Crackles, Tachypnea, Elevated pulmonary artery pressure, Pulmonary venous hypertension,... |
ORPHA:1329 |
Cystic Echinococcosis |
|
Abnormal pulmonary thoracic imaging finding, Hyperbilirubinemia, Urticaria, Multiple pulmonary cy... |
ORPHA:400 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Episodic hypoventilation, Recurrent respiratory infections, Death in infancy, Episodic respirator... |
OMIM:301790 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
ORPHA:75840 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death |
OMIM:619602 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Ketoacidosis, Respiratory alkalosis, Tachypnea, Increased serum lactate, Hyperalaninemia, Hyperam... |
OMIM:615751 |
Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency, Atelectasis |
OMIM:269860 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Respiratory insufficiency, Pulmonary hypoplasia, Repeated pneumothoraces... |
ORPHA:536467 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperprolinemia, Increased serum lactate, Recurrent lower respiratory tract infections, Hyperalan... |
OMIM:619170 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pulmonary arterial hypertension, Increased serum lactate, Hyperglycinemia, Hyperalaninemia, Death... |
OMIM:619059 |
Arnold-Chiari Malformation Type Ii |
|
Cyanosis, Apnea, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
Eosinophilia, Familial |
|
Pulmonary infiltrates, Recurrent bronchitis |
OMIM:131400 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Aortopulmonary window, Anomalous origin of left pulmonary artery... |
ORPHA:99050 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Renal Dysplasia-Limb Defects Syndrome |
|
Pneumothorax, Neonatal death, Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:266910 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Increased serum lactate |
OMIM:619196 |
Sepsis In Premature Infants |
|
Abnormal respiratory system physiology, Petechiae, Cyanosis, Abnormal mucociliary clearance, Purp... |
ORPHA:90051 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated circulating creatine kinase concentration, Respiratory distress, Recurrent respiratory i... |
ORPHA:329178 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Increased serum lactate |
OMIM:618397 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Metabolic acidosis, Apnea |
OMIM:618225 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pneumonia, Pulmonary arterial hypertension, Breathing dysregulation, Exertional dyspnea, Cyanosis... |
ORPHA:99103 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Lactic acidosis, Hyperammonemia, Elevated cir... |
ORPHA:26791 |
Synaptic Congenital Myasthenic Syndromes |
|
Neonatal respiratory distress, Respiratory insufficiency, Pulmonary arterial hypertension, Recurr... |
ORPHA:98915 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Mildly elevated creatine ... |
ORPHA:1143 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Respiratory insuffic... |
OMIM:616479 |
Nocardiosis |
|
Productive cough, Pneumonia, Pneumothorax, Pleuritis, Respiratory distress, Nonproductive cough, ... |
ORPHA:31204 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lactic acidosis, Respiratory insufficiency |
OMIM:618228 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Pulmonary fibrosis |
OMIM:612852 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Respiratory insufficiency due to muscle weakness, Lactic acidosis |
OMIM:617184 |
Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:608022 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Elevated circulating creatine kinase concentration, Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Sudden episodic apnea, Respiratory insufficiency, Elevated creatine kinase after exercise, Elevat... |
ORPHA:159 |
Colchicine Poisoning |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Abnormality of acid-base homeostasis, Hypomagnesemia... |
ORPHA:31824 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Increased serum lactate |
OMIM:615395 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Respiratory failure, Recurrent respiratory infections, Abnormal respiratory system physiology, Pn... |
ORPHA:98905 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Respiratory failure, Death in infancy, Hyperammonemia |
ORPHA:1194 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
Hypocomplementemic Urticarial Vasculitis |
|
Airway obstruction, Angioedema, Cough, Restrictive ventilatory defect, Dyspnea, Emphysema, Pleura... |
ORPHA:36412 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Respiratory failure, Tachypnea, Ventilator dependence with inability to wean, Inspiratory stridor |
OMIM:604320 |
Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Hypercapnia, Respiratory tract infection, Respiratory failure, Dyspnea, Respiratory fa... |
ORPHA:79138 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pulmonary infiltrates, Pulmonary fibrosis, Bronchiectasis |
OMIM:618394 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Metabolic acidosis, Increased serum lactate |
OMIM:615158 |
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Neonatal respiratory distress, Respiratory acidosis, Erythema, Respiratory distress, Abnormal pul... |
OMIM:614748 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Metabolic acidosis, Respiratory insufficiency, Hyperammonemia |
OMIM:618253 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory failure, Hypoventilation, Respiratory insufficiency, Elevated circulating creatine ki... |
OMIM:310200 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Malignant Atrophic Papulosis |
|
Respiratory failure, Telangiectasia of the skin, Pleural effusion |
ORPHA:679 |
Alg1-Cdg |
|
Respiratory failure, Hypoalbuminemia |
ORPHA:79327 |
Gaucher Disease, Type I |
|
Epistaxis, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pulmonary... |
OMIM:230800 |
Antisynthetase Syndrome |
|
Respiratory insufficiency, Elevated circulating creatine kinase concentration, Pulmonary arterial... |
ORPHA:81 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Metabolic acidosis, Hyperalaninemia |
ORPHA:2597 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Death in infancy, Pulmonary arterial hypertension, Increased serum lactate, Hyperalaninemia, Hype... |
OMIM:619064 |
Hsd10 Disease, Infantile Type |
|
Increased serum lactate, Hyperammonemia, Cyanosis, Metabolic acidosis, Lactic acidosis |
ORPHA:391428 |
Esophageal Atresia |
|
Chronic pulmonary obstruction, Episodic respiratory distress, Laryngotracheomalacia, Respiratory ... |
ORPHA:1199 |
Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Increased serum pyruvate, Increased serum lactate |
OMIM:614055 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Respiratory insufficiency, Increased serum lactate, Hyperalaninemia, Increased serum pyruvate, La... |
OMIM:617668 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Mildly elevated creatine kinase, Respiratory insufficiency |
ORPHA:1145 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Death in infancy, Increased serum lactate, Increased total bilirubin, Metabolic acidosis, Jaundice |
OMIM:618528 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate |
OMIM:617613 |
Myopathy, Centronuclear, X-Linked |
|
Respiratory failure, Neonatal respiratory distress, Respiratory failure requiring assisted ventil... |
OMIM:310400 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Respiratory insufficiency, Stillbirth |
OMIM:276950 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Hyponatremia |
OMIM:618426 |
Gaucher Disease, Perinatal Lethal |
|
Petechiae, Neonatal death, Apnea, Respiratory distress, Purpura, Pulmonary hypoplasia |
OMIM:608013 |
Bronchial Neuroendocrine Tumor |
|
Wheezing, Facial telangiectasia, Pneumonia, Dermatological manifestations of systemic disorders, ... |
ORPHA:97287 |
Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis |
ORPHA:621 |
Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Telangiectasia of the skin, Pulmonary infiltrates, Pulmonary fib... |
ORPHA:220393 |
Congenital Enterovirus Infection |
|
Respiratory distress, Hypoalbuminemia, Pleural effusion, Hyperammonemia |
ORPHA:292 |
Respiratory Underresponsiveness To Hypoxia And Hypercapnia |
|
Respiratory failure, Hypercapnia, Respiratory insufficiency |
OMIM:267480 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Increased serum lactate |
OMIM:614652 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Hyperprolinemia, Lactic acidosis, Increased serum lactate, Hyperalaninemia |
ORPHA:79246 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Respiratory failure, Intercostal muscle weakness, Stridor, Obstructive sleep apnea |
OMIM:606071 |
Riboflavin Deficiency |
|
Metabolic acidosis, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Acrocyanosis, Increased blood urea nitrogen, Decre... |
OMIM:223900 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Hemosiderin-laden macrophages in bronchoalveolar fluid, Respiratory insufficiency, Ele... |
OMIM:608710 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Increased serum lactate |
OMIM:618951 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Increased serum lactate |
OMIM:545000 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Scimitar Syndrome |
|
Bronchogenic cyst, Pneumothorax, Pulmonary sequestration, Pulmonary arterial hypertension, Pulmon... |
ORPHA:185 |
Combined Oxidative Phosphorylation Deficiency 43 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate |
OMIM:618851 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Metabolic acidosis, Increased serum lactate, Respiratory insufficiency |
OMIM:618247 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Ketoacidosis, Acidosis |
ORPHA:289504 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Recurrent respiratory infections, Metabolic acidosis |
OMIM:264350 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Respiratory insufficiency, Elevated circulating creatine kinase concentration, Increased serum la... |
OMIM:610505 |
Idiopathic Neonatal Atrial Flutter |
|
Tachypnea, Respiratory distress |
ORPHA:45452 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Decreased plasma free carnitine, Respiratory insufficiency, Elevated circulating long chain fatty... |
OMIM:608836 |
Isovaleric Acidemia |
|
Metabolic acidosis |
ORPHA:33 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated circulating creatine kinase concentration, Respiratory distress, Telangiectasia |
OMIM:608799 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent bronchopulmonary infections, Death in childhood, Respiratory distress, Recurrent pneumo... |
OMIM:617303 |
Peripartum Cardiomyopathy |
|
Paroxysmal dyspnea, Crackles, Pulmonary arterial hypertension, Exertional dyspnea, Orthopnea, Ast... |
ORPHA:563 |
Netherton Syndrome |
|
Urticaria, Recurrent respiratory infections, Emphysema, Asthma |
ORPHA:634 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary artery vasoconstriction, Telangiectasia, Pulmonary arterial medial hypertrophy, Pulmona... |
OMIM:178600 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Death in infancy, Respiratory insufficiency, Hypokalemia, Hypophosphatemia, Increas... |
ORPHA:534 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Combined Oxidative Phosphorylation Deficiency 26 |
|
Exertional dyspnea, Increased serum lactate |
OMIM:616539 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory insufficiency, Increased serum lactate, Hyperalaninemia, Hypoalbuminemia, Respiratory... |
OMIM:618329 |
Osteopetrosis, Autosomal Recessive 5 |
|
Respiratory failure, Hyperbilirubinemia, Stillbirth, Hypocalcemia |
OMIM:259720 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Ecchymosis, Pneumonia, Petechiae, Elevated circulating creatinine concentration, Ep... |
ORPHA:340 |
Fusariosis |
|
Sinusitis, Productive cough, Lung abscess, Pneumonia, Bronchiectasis, Ground-glass opacification,... |
ORPHA:228119 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Respiratory insufficiency, Atelectasis |
OMIM:618278 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Unconjugated hyperbilirubinemia, Respiratory insufficiency, Tachypnea, Cough, Hypocalcemia, Abnor... |
OMIM:613658 |
Leigh Syndrome With Cardiomyopathy |
|
Renal tubular acidosis, Apnea, Increased serum lactate, Respiratory distress, Central hypoventila... |
ORPHA:70474 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hyperglutaminemia, Hyperalaninemia, Acute hyperammonemia, Respiratory distress, Hyperammonemia |
ORPHA:927 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Amyotrophic Lateral Sclerosis |
|
Respiratory failure, Dyspnea, Abnormal respiratory system physiology |
ORPHA:803 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure, Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Ele... |
ORPHA:496641 |
Anti-Glomerular Basement Membrane Disease |
|
Pulmonary infiltrates, Purpura, Cough, Respiratory insufficiency |
ORPHA:375 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:267430 |
Histiocytoid Cardiomyopathy |
|
Tachypnea, Cough, Cyanosis, Pulmonary edema, Lactic acidosis |
ORPHA:137675 |
Acute Peripheral Arterial Occlusion |
|
Acidosis |
ORPHA:90064 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Increased serum lactate |
OMIM:614947 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Metabolic acidosis, Lactic acidosis, Increased serum lactate, Hyperalaninemia |
OMIM:614702 |
Sarcoidosis, Susceptibility To, 1 |
|
Hypoxemia, Bronchiectasis, Pulmonary arterial hypertension, Cough, Elevated bronchoalveolar lavag... |
OMIM:181000 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Respiratory insufficiency, Severe lactic acidosis, Apnea, Elevated lactate:pyru... |
OMIM:252010 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hyperammonemia |
ORPHA:289916 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:619383 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Severe lactic acidosis, Elevated circulating creatine kinase concentration, Increased serum lacta... |
OMIM:615418 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypoxemia, Intercostal muscle weakness, Hypercapnia, Respiratory insufficiency due to muscle weak... |
ORPHA:2020 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate |
OMIM:617069 |
Unilateral Polymicrogyria |
|
Cyanosis, Epistaxis, Apnea, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Death in childhood, Acidosis, Low plasma citrulline, Hyperammonemia |
OMIM:618567 |
Dermatomyositis |
|
Respiratory insufficiency, Cutaneous photosensitivity, Lung adenocarcinoma, Pulmonary arterial hy... |
ORPHA:221 |
Arterial Tortuosity Syndrome |
|
Pulmonary artery stenosis, Telangiectasia of the skin, Respiratory distress, Prematurely aged app... |
ORPHA:3342 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal Fanconi syndrome, Respiratory insufficiency due to muscle weakness, Increased serum lactate... |
OMIM:220110 |
Liver Failure, Infantile, Transient |
|
Lactic acidosis, Increased serum lactate, Hyperbilirubinemia, Jaundice |
OMIM:613070 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Metabolic acidosis, Increased serum lactate |
OMIM:610090 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Pulmonary arterial hypertension, Acrocyanosis, ... |
ORPHA:2905 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Lactic acidosis, Pulmonary arterial hypertension, Increased serum lactate |
OMIM:619272 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Respiratory insufficiency |
OMIM:273730 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... |
ORPHA:88618 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Increased serum lactate |
OMIM:301020 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ketoacidosis, Episodic ketoacidosis, Increased serum lactate, Hyperammonemia, Lactic acidosis |
OMIM:615453 |
Cocaine Intoxication |
|
Wheezing, Tachypnea, Pneumothorax, Elevated circulating creatine kinase concentration, Cough, Res... |
ORPHA:90068 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:2707 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased serum lactate, Respiratory distress, Inc... |
OMIM:274150 |
Tiglic Acidemia |
|
Acidosis |
OMIM:275190 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbuminemia, Metabolic acid... |
OMIM:618183 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Bloom Syndrome |
|
Telangiectasia, Chronic pulmonary obstruction, Cutaneous photosensitivity, Pneumonia, Rhinitis, R... |
ORPHA:125 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Metabolic acidosis, Increased serum lactate |
OMIM:618234 |
Cryptococcosis |
|
Pneumonia, Cough, Respiratory distress, Nodular pattern on pulmonary HRCT, Dyspnea, Pleural effusion |
ORPHA:1546 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Lactic acidosis, Increased serum lactate, Hyperalaninemia |
OMIM:617228 |
Common Variable Immunodeficiency |
|
Pneumonia, Bronchiectasis, Recurrent bronchitis, Purpura, Restrictive ventilatory defect, Recurre... |
ORPHA:1572 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Pulmonary edema |
OMIM:261740 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Cutis marmorata, Pulmonary arterial hypertension, Increased serum lactate |
OMIM:614651 |
Isolated Glycerol Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Metabolic acidosis |
ORPHA:408 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hyperammonemia |
ORPHA:79312 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Interstitial pneumonitis, Angioedema, Erythema, Cough, Pulmonary infiltrates, Dyspnea |
ORPHA:139402 |
Toxic Epidermal Necrolysis |
|
Erythema, Cough, Respiratory distress, Abnormal pleura morphology, Restrictive ventilatory defect... |
ORPHA:537 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformati... |
OMIM:610655 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate |
OMIM:617070 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Increased serum lactate, Hyperalaninemia, Hyperammonemia, Metabo... |
OMIM:619051 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Dyspnea, Increased serum lactate |
ORPHA:1349 |
Beta-Ketothiolase Deficiency |
|
Ketoacidosis, Tachypnea, Cough, Increased serum lactate, Hyperuricemia, Hyperammonemia, Metabolic... |
ORPHA:134 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Acidosis |
OMIM:137950 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Lactic acidosis, Increased serum lactate, Hyperalaninemia |
OMIM:616974 |
Q Fever |
|
Pneumonia, Cough, Respiratory distress, Abnormal pulmonary interstitial morphology, Purpura, Pleu... |
ORPHA:781 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Metabolic acidosis, Elevated lactate:pyruvate ratio, Increased serum lactate |
OMIM:609060 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Lactic acidosis, Respiratory insufficiency |
OMIM:617021 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory insufficiency due to muscle weakness, Lactic acidosis, Increased serum lactate |
OMIM:613561 |
Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
Myopathy With Lactic Acidosis, Hereditary |
|
Elevated circulating creatine kinase concentration, Dyspnea, Lactic acidosis, Increased serum lac... |
OMIM:255125 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|