| Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
| Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Lung adenocarcinoma, Reduced forced vital capacity, Atelectasis... |
ORPHA:2302 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... |
OMIM:619773 |
| Larynx Atresia |
|
Recurrent respiratory infections, Short stature, Respiratory insufficiency |
ORPHA:1202 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstitial pneumonitis, T... |
OMIM:265120 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:253300 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A... |
ORPHA:70589 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Severe short stature, Growth delay, Respiratory failure, Aspiratio... |
OMIM:619057 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... |
ORPHA:79126 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P... |
ORPHA:1302 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
| Congenital Pulmonary Airway Malformation |
|
Respiratory insufficiency, Abnormal pleura morphology |
ORPHA:2444 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology, Abnormal pleura morphology, Respiratory insufficiency, Restrictiv... |
ORPHA:724 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
| Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re... |
OMIM:620326 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... |
ORPHA:2257 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Growth delay, Cough, Pulmonary art... |
ORPHA:2414 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Short stature, Respiratory insufficiency |
ORPHA:2901 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... |
OMIM:620296 |
| Immunodeficiency 54 |
|
Recurrent respiratory infections, Short stature, Postnatal growth retardation, Respiratory insuff... |
OMIM:609981 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Severe short stature |
OMIM:302000 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
| Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
| Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Hypoxemia... |
ORPHA:36238 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... |
ORPHA:2902 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Pulmonar... |
ORPHA:70588 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea |
ORPHA:1832 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure |
OMIM:300717 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure, Short stature |
OMIM:600561 |
| Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema |
ORPHA:70578 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... |
ORPHA:137914 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency |
OMIM:616081 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dysp... |
ORPHA:199241 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:616867 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
| Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve... |
ORPHA:99931 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency |
ORPHA:2111 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insufficiency |
OMIM:178550 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
| Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... |
ORPHA:449280 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
| Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
| Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneum... |
ORPHA:60025 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Apnea |
OMIM:610992 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Respiratory failure |
ORPHA:890 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Severe short stature, Respiratory insufficiency |
OMIM:313420 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... |
OMIM:614370 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death |
OMIM:611890 |
| Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Ple... |
OMIM:612387 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Ta... |
ORPHA:454836 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Congenital Heart Block |
|
Intrauterine growth retardation, Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
| Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Apnea |
OMIM:618414 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
| Nemaline Myopathy 8 |
|
Respiratory failure |
OMIM:615348 |
| Alpha-1-Antitrypsin Deficiency |
|
Jaundice, Emphysema |
ORPHA:60 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Respiratory insufficiency, Growth delay, Respiratory failure, Neon... |
OMIM:245400 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... |
ORPHA:555874 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Acrocyanosis |
ORPHA:896 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea |
ORPHA:2759 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure |
OMIM:225753 |
| Nephronophthisis 2 |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:602088 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, C... |
ORPHA:2038 |
| C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... |
OMIM:620321 |
| Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Short stature, Pneumonia, Bronchitis, Neonatal asphyxia, Erythema, R... |
ORPHA:420741 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Respiratory failure, Apnea |
OMIM:616277 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Facial erythema |
OMIM:618307 |
| Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Respiratory failure, Pulmonar... |
OMIM:607625 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Growth delay, Acrocyanosis, Short stature, Pneumonia |
ORPHA:1867 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Cyanosis, Exertional dyspnea |
OMIM:250800 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
| Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Postnatal growth retardation, P... |
ORPHA:3309 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Severe postn... |
ORPHA:98905 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Respiratory failure, Bruising susceptibility |
ORPHA:3226 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema |
ORPHA:542323 |
| Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... |
ORPHA:2357 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Short stature |
OMIM:210050 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Tachypnea, Respiratory failure, Intrauterine growth retardation, Inspiratory stridor, Ventilator ... |
OMIM:604320 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... |
ORPHA:308552 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis |
ORPHA:444013 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short stat... |
ORPHA:209905 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Intrauterine growth retardation, Cyanosis |
OMIM:619793 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
| Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
| Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia |
OMIM:620249 |
| Snakebite Envenomation |
|
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis |
ORPHA:449285 |
| Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:98914 |
| Radio-Renal Syndrome |
|
Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef... |
ORPHA:3015 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Sinusitis, Abnormal pleura morphology, Eosi... |
ORPHA:183 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morphology, Bro... |
OMIM:620233 |
| Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Tachypnea, Cyanosis, Short stature |
ORPHA:3426 |
| Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia |
ORPHA:171430 |
| Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
| Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu... |
ORPHA:141127 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Growth delay, Respiratory failure, Pneumothorax |
ORPHA:445038 |
| Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
| Metatropic Dysplasia |
|
Severe short stature, Disproportionate short-trunk short stature, Respiratory insufficiency, Resp... |
OMIM:156530 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pn... |
ORPHA:980 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Respiratory failure |
ORPHA:363400 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure |
OMIM:619386 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Respiratory failure, Tachypnea, Respiratory insufficiency |
OMIM:614299 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Disproportionate short sta... |
OMIM:616482 |
| Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Respiratory failure |
OMIM:619334 |
| Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea, Anomalous pulmonary venous return |
ORPHA:860 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:618186 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure |
ORPHA:352447 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure |
OMIM:606612 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Short stature, Intercostal muscle weakness |
OMIM:606071 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Short stature, Growth delay, Pulmonary artery hypoplasia, Delayed puberty |
ORPHA:2326 |
| Bloom Syndrome |
|
Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Telangiectasia... |
ORPHA:125 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... |
ORPHA:258 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Short stature, Pneumonia |
OMIM:617809 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
| Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
| Meckel Syndrome 14 |
|
Pneumothorax, Cyanosis, Pulmonary hypoplasia, Cardiorespiratory arrest |
OMIM:619879 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Growth delay, Intrauterine growth retardation, Respiratory failure |
ORPHA:1194 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Neonatal death, Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:605711 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Cyanotic episode |
ORPHA:284417 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
| Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Episodic respirator... |
ORPHA:1199 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Intrauterine growth retardation, Respiratory failure |
OMIM:610678 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... |
ORPHA:99104 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure |
OMIM:618240 |
| Goodpasture Syndrome |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restrictive ven... |
OMIM:233450 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea, Recurrent lower r... |
OMIM:618426 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Short stature |
ORPHA:1861 |
| Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Neonatal death |
OMIM:300219 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... |
OMIM:244400 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Orthopnea, Postnatal growth retardation, Dyspnea, Pulmonary ven... |
ORPHA:75249 |
| Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
| Sandestig-Stefanova Syndrome |
|
Intrauterine growth retardation, Respiratory failure |
OMIM:618804 |
| Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
| Malignant Atrophic Papulosis |
|
Pleural effusion, Telangiectasia of the skin, Respiratory failure |
ORPHA:679 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Growth delay, Dyspnea, Respiratory failure, Respiratory distress |
ORPHA:2707 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Growth delay, Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent ... |
ORPHA:496641 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
| Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea |
OMIM:615838 |
| Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Neonatal death, Respiratory failure, Stillbirth |
OMIM:614922 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Eosinophilia, Atelectasis, Cough, Generalized abnormality of skin |
ORPHA:2314 |
| Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
| Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
| Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum... |
ORPHA:31204 |
| Eosinophilic Fasciitis |
|
Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary edema |
ORPHA:31826 |
| Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... |
ORPHA:365 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Respiratory failure, Chylothorax |
OMIM:620278 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Jaundice, Respiratory ins... |
OMIM:615512 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Growth delay, Acrocyanosis |
OMIM:614407 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Growth delay, Decreased sensitivity to hypoxemia, Acrocyanosis, Recurrent infections due to aspir... |
OMIM:223900 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Pulmonary... |
ORPHA:3342 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Short stature, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, ... |
OMIM:613658 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
| Dermatomyositis |
|
Recurrent respiratory infections, Abnormal eosinophil morphology, Telangiectasia of the skin, Ery... |
ORPHA:221 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema |
OMIM:261740 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest |
ORPHA:26791 |
| Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Short stature |
OMIM:619847 |
| Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
| Familial Dysautonomia |
|
Growth delay, Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology |
ORPHA:1764 |
| Joubert Syndrome 21 |
|
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis |
OMIM:615636 |
| Tarp Syndrome |
|
Intrauterine growth retardation, Cyanosis, Apnea, Pulmonary hypoplasia |
ORPHA:2886 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Jaundice, Growth delay, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest |
OMIM:617248 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Short stature |
ORPHA:280210 |
| Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... |
ORPHA:2905 |
| Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Short stature, Recurrent pn... |
ORPHA:647 |
| Lethal Acantholytic Erosive Disorder |
|
Intrauterine growth retardation, Respiratory failure, Fragile skin |
ORPHA:158687 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Growth delay, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
| Double Outlet Left Ventricle |
|
Pulmonary artery stenosis, Cyanosis, Tachypnea |
ORPHA:3427 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... |
ORPHA:340 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:608836 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Intrauterine growth retardation, Respiratory failure |
OMIM:620327 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory failure, Respiratory insufficiency due to muscle weakness, Exer... |
OMIM:220110 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Growth delay, Respiratory failure |
ORPHA:3240 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Growth delay, Respiratory failure |
ORPHA:88618 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea |
OMIM:619580 |
| Aicardi-Goutieres Syndrome 1 |
|
Short stature, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
| Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Postnatal growth retardation, Intrauterine growth retardation, Respiratory failure |
ORPHA:254528 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae |
OMIM:602473 |
| Histiocytoid Cardiomyopathy |
|
Cough, Cyanosis, Tachypnea, Pulmonary edema |
ORPHA:137675 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Growth delay, Stridor, Respiratory failur... |
ORPHA:79404 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Progeroid facial appearance, Poor wound healing, Dyspnea, Bronchiect... |
OMIM:123700 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Short stature, Central hypoventilation, Asthma, Recurrent upper respir... |
ORPHA:293987 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure |
OMIM:617186 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial anomalous pulmonary venous return, Cyanosis |
OMIM:617478 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Growth delay, Respiratory failure, Stillbirth, Short stature |
OMIM:259720 |
| Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
| Farber Disease |
|
Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent up... |
ORPHA:333 |
| Leigh Syndrome |
|
Growth delay, Intrauterine growth retardation, Respiratory failure, Abnormal pattern of respiration |
ORPHA:506 |
| Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Restrictive ventilatory def... |
ORPHA:538 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea |
OMIM:617301 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cyanosis, Apnea, Respiratory insufficiency, Growth delay, Respiratory failure |
OMIM:252010 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Growth delay, Respirato... |
ORPHA:731 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Respiratory failure, Generalized abnormality o... |
ORPHA:805 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Dyspnea, Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency |
OMIM:610505 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Listeriosis |
|
Respiratory distress, Jaundice, Pneumonia, Respiratory failure |
ORPHA:533 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Postnatal growth retardation, Pneumothorax, Birth length less than 3rd perc... |
ORPHA:3404 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Growth delay, Pulmonary hypoplasia... |
OMIM:613177 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure |
OMIM:614862 |
| Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea |
ORPHA:2299 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
| Niemann-Pick Disease Type C |
|
Jaundice, Abnormal lung morphology, Respiratory insufficiency, Respiratory failure, Aspiration pn... |
ORPHA:646 |
| Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:2912 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Respira... |
ORPHA:536467 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis, Ecchymosis, Purpura |
ORPHA:319213 |
| Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:51636 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Cyanosis, Total anomalous pulmonary venous return |
OMIM:306955 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Intrauter... |
ORPHA:2554 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
| Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Intrauterine growth... |
OMIM:269860 |
| Costello Syndrome |
|
Short stature, Pneumothorax, Respiratory insufficiency, Respiratory failure, Tracheomalacia |
OMIM:218040 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Postnatal growth retardation, Pulmonary artery stenosis, Growth delay, Pulmonary a... |
ORPHA:96334 |
| Pitt-Hopkins Syndrome |
|
Postnatal growth retardation, Growth delay, Acrocyanosis, Abnormal pattern of respiration, Hyperv... |
ORPHA:2896 |
| Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
| Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary... |
ORPHA:97214 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
| Myhre Syndrome |
|
Short stature, Respiratory insufficiency, Birth length less than 3rd percentile, Respiratory fail... |
OMIM:139210 |
| Relapsing Polychondritis |
|
Atelectasis, Dyspnea, Erythema, Cough, Abnormal pattern of respiration, Purpura |
ORPHA:728 |
| Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis, Recurrent str... |
ORPHA:48435 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Severe short stature, Dyspnea, Erythema, Growth delay, Respiratory failure |
ORPHA:2556 |
| Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Pleural effusion, Recurrent pneumonia, Cough |
OMIM:306400 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Proportionate short stature, Respiratory failure, Intrauterine growth r... |
ORPHA:500150 |
| Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Cyanosis |
OMIM:212093 |
| Abetalipoproteinemia |
|
Respiratory failure |
ORPHA:14 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Respiratory failure |
OMIM:300868 |
| Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Delayed menarche, Upper airway obstruction, Pulmon... |
ORPHA:740 |
| Steinert Myotonic Dystrophy |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat... |
ORPHA:273 |
| Zygomycosis |
|
Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Acute infectious pneumonia, Cough, Pleural effus... |
ORPHA:73263 |
| Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Intrauterine growth retardation, Respiratory failure, Severe short stature |
ORPHA:2636 |
| Otopalatodigital Syndrome, Type Ii |
|
Short stature, Postnatal growth retardation, Respiratory insufficiency, Respiratory failure, Stil... |
OMIM:304120 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure |
OMIM:618252 |
| 22Q11.2 Deletion Syndrome |
|
Short stature, Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation, Intrau... |
ORPHA:567 |
| Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
| Aicardi-Goutières Syndrome |
|
Acrocyanosis, Short stature, Cutis marmorata, Prolonged neonatal jaundice |
ORPHA:51 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Short stature, Atelectasis, Respiratory insufficiency, Delayed ... |
ORPHA:534 |
| Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
| Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
| Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... |
ORPHA:287 |
| Digeorge Syndrome |
|
Short stature, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Recurrent... |
OMIM:188400 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension, Cyanosis |
ORPHA:51608 |
| Coffin-Lowry Syndrome |
|
Acrocyanosis, Short stature, Cutis marmorata |
OMIM:303600 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis, Apnea |
ORPHA:285 |
| Periventricular Nodular Heterotopia |
|
Aortic regurgitation |
ORPHA:98892 |
| Lissencephaly 8 |
|
|
OMIM:617255 |
