Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car... |
ORPHA:50251 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru... |
ORPHA:2414 |
Lymphangiectasia, Pulmonary, Congenital |
|
Recurrent respiratory infections, Mild postnatal growth retardation, Nonimmune hydrops fetalis, P... |
OMIM:265300 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Dyspnea, Pleural effusion |
ORPHA:48686 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm... |
OMIM:267450 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
Congenital Heart Block |
|
Crackles, First degree atrioventricular block, Pericardial effusion, Gallop rhythm, Congestive he... |
ORPHA:60041 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... |
OMIM:610476 |
Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lym... |
OMIM:616843 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... |
ORPHA:79126 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion |
OMIM:602248 |
Radio-Renal Syndrome |
|
Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef... |
ORPHA:3015 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Res... |
OMIM:612387 |
Pulmonary Blastoma |
|
Dyspnea, Recurrent pneumonia, Pleuropulmonary blastoma, Cough |
ORPHA:64741 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac... |
ORPHA:36238 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... |
ORPHA:45452 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... |
ORPHA:100057 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... |
OMIM:619773 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... |
ORPHA:199241 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Abnormal lung morphology, Tachypnea, Atelectasis, Whee... |
ORPHA:60032 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension, Stillbirth, Neon... |
OMIM:619751 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Pleural effusion, Ascites, Edema |
OMIM:603278 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Short stature, Polyhydramnios, Respiratory insufficiency due to muscle weak... |
OMIM:300580 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, ... |
ORPHA:538 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Dyspnea, Congestive heart failure, Dilated cardi... |
OMIM:612877 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Short stature |
ORPHA:2374 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax |
OMIM:620278 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Dyspnea, Nonproductive cough, Atelectasis, Wheezing, Asthma, Hypersensitivity pneumonit... |
ORPHA:2902 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Arrh... |
ORPHA:1041 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... |
ORPHA:264675 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Intrauterine growth retardation, ... |
OMIM:614702 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Pulmonar... |
ORPHA:70588 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Rhinorrhea, Myocarditis, Cardiorespiratory arrest, Pedal edema, Hypotension, Cough,... |
ORPHA:188 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Severe short stature, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv... |
ORPHA:137667 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Cough, Abnormal pattern o... |
ORPHA:77260 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti... |
OMIM:620236 |
Aspergillosis |
|
Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Hypersensitivity pneumoniti... |
ORPHA:1163 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... |
ORPHA:70587 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... |
ORPHA:330001 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... |
OMIM:234810 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Neonatal respiratory distress, Chylothorax, Polyhydramnios |
OMIM:619036 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Arrhythmia |
OMIM:153400 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Dyspnea, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Pericardial effusion, Co... |
OMIM:261740 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea |
ORPHA:1832 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Short stature, Bronchiolitis |
OMIM:615993 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Postnatal growth retardation, Hypertension, Pulmonary hypoplasia, Intrauter... |
OMIM:616733 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Pulmonary Arteriovenous Malformation |
|
Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart murmur, Telangiectasi... |
ORPHA:2038 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... |
ORPHA:69735 |
Hennekam Syndrome |
|
Recurrent respiratory infections, Mild postnatal growth retardation, Lymphedema, Pericardial effu... |
ORPHA:2136 |
Follicular Lymphoma |
|
Pleural effusion, Lymphedema |
ORPHA:545 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left... |
ORPHA:542323 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Hypoxemia, Intracranial hemorrhage, Abnormality of... |
ORPHA:284227 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Myocardial... |
ORPHA:60033 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... |
OMIM:613838 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Short stature, Polyhydramnios, Lymphedema, Postnatal growth retardation, Mitral regurgitation, Ch... |
OMIM:613563 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
Acute Lung Injury |
|
Respiratory distress, Shock, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, A... |
ORPHA:178320 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pericarditis, Pneumonia, Bronchitis, Abnormal respiratory syst... |
ORPHA:449280 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnorm... |
OMIM:620233 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... |
OMIM:616414 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Orthopnea, Atrial fibrillation, Tricuspid regurgitation, Suprav... |
ORPHA:75249 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Tularemia |
|
Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion |
ORPHA:3392 |
Asbestos Intoxication |
|
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... |
ORPHA:2302 |
Hypocomplementemic Urticarial Vasculitis |
|
Pericardial effusion, Dyspnea, Angioedema, Small vessel vasculitis, Restrictive ventilatory defec... |
ORPHA:36412 |
Meige Disease |
|
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem... |
ORPHA:90186 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... |
ORPHA:2032 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Familial Atrial Fibrillation |
|
Atrial fibrillation, Myocardial infarction, Dyspnea, Syncope, Palpitations |
ORPHA:334 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Respiratory tract infection, Dyspnea, P... |
ORPHA:567546 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... |
ORPHA:1677 |
Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera... |
ORPHA:64739 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
Noonan Syndrome 8 |
|
Short stature, Polyhydramnios, Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonic stenos... |
OMIM:615355 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Intrauterine growth retardation, Cardiomyopathy |
ORPHA:26792 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Congenital Enterovirus Infection |
|
Respiratory distress, Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops f... |
ORPHA:292 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Transient ischemic attack, Cardiac arrest, First degree atrioventricular bl... |
OMIM:115197 |
Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Dyspnea, Congestive heart failure, Pleural empyema, Cough, Constrictive pericarditi... |
ORPHA:67 |
Monosodium Glutamate Sensitivity |
|
Dyspnea, Palpitations |
OMIM:231630 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... |
OMIM:613243 |
Hemochromatosis, Type 1 |
|
Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia, Pleural effusion, Ascites |
OMIM:235200 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Joint swelling, Pleural effusion, Pericarditis |
ORPHA:85414 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Polyhydramnios, Edema |
ORPHA:1423 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Cerebral hemorrhage, Respiratory insufficiency, Bradycardia,... |
OMIM:617397 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Pedal edema, Heart m... |
ORPHA:422 |
Ovarian Fibroma |
|
Pleural effusion, Ascites |
ORPHA:314473 |
Sarcoidosis |
|
Abnormal cardiac ventricular function, Abnormal pleura morphology, Portal hypertension, Heart blo... |
ORPHA:797 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Right bundle branch block, Reduced left ventricula... |
OMIM:115195 |
Immunodeficiency 91 And Hyperinflammation |
|
Edema, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Recurrent lower respirato... |
OMIM:619644 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Severe short stature, Edema, Lymphedema, Chylothorax, Pleural effusion |
ORPHA:2526 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... |
ORPHA:99105 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Intrauterine ... |
OMIM:616897 |
Pontocerebellar Hypoplasia, Type 13 |
|
Pleural effusion, Asthma, Recurrent respiratory infections, Edema |
OMIM:618606 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Dyspnea, Left posterior fascicular block, Right bundle branch block, Syncop... |
OMIM:113900 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakness, Resp... |
OMIM:613561 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... |
OMIM:614370 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough |
ORPHA:99825 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... |
OMIM:613490 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... |
OMIM:265120 |
Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Short stature, Polyhydramnios, Abnormal p... |
OMIM:617180 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn... |
OMIM:232300 |
Ring Chromosome 22 Syndrome |
|
Growth delay, Pleural effusion, Edema, Lymphedema |
ORPHA:1446 |
Fryns Syndrome |
|
Chylothorax, Stillbirth, Pulmonary hypoplasia, Polyhydramnios |
OMIM:229850 |
Solar Urticaria |
|
Edema, Periorbital edema, Dyspnea, Wheezing, Angioedema, Syncope |
ORPHA:97230 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Effort-induced polymorphic ventricular... |
ORPHA:3282 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Pedal edema, Left bundle branch block, Abnormal T-wave, Dilate... |
ORPHA:563 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re... |
OMIM:620326 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia |
ORPHA:238459 |
High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... |
ORPHA:133 |
Gorham-Stout Disease |
|
Pleural effusion, Edema, Rhinorrhea |
ORPHA:73 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension |
ORPHA:247257 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
Noonan Syndrome 1 |
|
Short stature, Lymphedema, Postnatal growth retardation, Chylothorax, Pulmonic stenosis, Hypertro... |
OMIM:163950 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Crackles, Abnormal pleura morphology, Portal hypertension, Dyspnea, Restrictive ventilatory defec... |
ORPHA:210136 |
Ovarian Fibrothecoma |
|
Pleural effusion, Ascites |
ORPHA:314478 |
Pediatric Systemic Lupus Erythematosus |
|
Edema, Pericardial effusion, Dyspnea, Raynaud phenomenon, Pleural effusion, Ascites |
ORPHA:93552 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Growth delay, Pleural effusion, Ascites, Generalized edema |
ORPHA:90362 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Shock, Tachycardia, Pneumonia, Epistaxis, Hematemesis, Dyspnea, Capillary l... |
ORPHA:340 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Neoplasm of the lung, Cough |
ORPHA:142 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of ha... |
ORPHA:100050 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pericardial effusion, Dyspnea, Abnormal lung morphology, Subconju... |
ORPHA:464329 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, Vasculitis, ... |
ORPHA:33226 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... |
OMIM:608758 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Palpitations, Hypertrophi... |
OMIM:613873 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Respiratory failu... |
ORPHA:679 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Dyspnea, Congestive heart failure, Ventricular t... |
OMIM:612098 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cardiomyopathy, Cough |
ORPHA:86812 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... |
ORPHA:1329 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Intrauterine growth retardation, Oligohydramnios |
ORPHA:261304 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Poems Syndrome |
|
Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Restrictive ventil... |
ORPHA:2905 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... |
OMIM:610910 |
Q Fever |
|
Respiratory distress, Pericarditis, Pneumonia, Pericardial effusion, Myocarditis, Vasculitis, Abn... |
ORPHA:781 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Stt3B-Cdg |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:370924 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection |
OMIM:620011 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Pleural effusion, Recurrent pneumonia, Short stature, Pulmonary fibrosis |
OMIM:618935 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... |
ORPHA:330021 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... |
OMIM:615343 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Peri... |
OMIM:235510 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Recurrent upper respiratory tract infections, Hematochezia,... |
OMIM:618183 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Hellp Syndrome |
|
Generalized edema, Cerebral hemorrhage, Hypotension, Pleural effusion, Internal hemorrhage, Pulmo... |
ORPHA:244242 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Intrauterine growth retardation |
OMIM:615597 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Oligohydramnios |
ORPHA:1143 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... |
ORPHA:99103 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress |
OMIM:616974 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency, Respiratory f... |
OMIM:614299 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... |
ORPHA:70578 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory failure |
ORPHA:2759 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... |
ORPHA:137914 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pn... |
ORPHA:31204 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, P... |
OMIM:160900 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Congestive ... |
ORPHA:367 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
OMIM:617822 |
Erdheim-Chester Disease |
|
Dyspnea, Congestive heart failure, Abnormal pulmonary interstitial morphology, Joint swelling, Pu... |
ORPHA:35687 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:615042 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effus... |
ORPHA:1546 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism,... |
ORPHA:3260 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Idiopathic Pulmonary Arterial Hypertension |
|
Edema of the dorsum of feet, Tricuspid regurgitation, Increased pulmonary vascular resistance, Dy... |
ORPHA:275766 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgitation... |
OMIM:212140 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxe... |
OMIM:181000 |
Congenital Left Ventricular Aneurysm |
|
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal T-wave, Arrhythmia |
ORPHA:1055 |
Noonan Syndrome 10 |
|
Mitral stenosis, Short stature, Increased nuchal translucency, Hypertrophic cardiomyopathy, Mitra... |
OMIM:616564 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Dy... |
OMIM:609040 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Pleural ef... |
OMIM:620369 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Cardiomyopathy, Dehydration |
ORPHA:79312 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Dyspnea... |
ORPHA:439 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges... |
ORPHA:3092 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Growth delay, Respiratory distress |
ORPHA:289916 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Crackles, Constrict... |
ORPHA:99095 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal lymphedema, Edema, Lymphedema, Right ventricular failure, Chylous ascites, Intestinal ... |
ORPHA:90363 |
Aortic Arch Interruption |
|
Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substa... |
ORPHA:2299 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Short stature, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy |
ORPHA:254913 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Congestive heart failure, ... |
OMIM:616482 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Prolonged QT interval, Tachycardia, Pneumonia, Episodic tachypnea, Pericard... |
ORPHA:26793 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Gastrointestinal hemorrhage, Persistent fetal circulation, Short stature, P... |
ORPHA:363705 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Odontochondrodysplasia |
|
Respiratory distress, Short stature |
ORPHA:166272 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Tachypnea, Respiratory distress |
ORPHA:79242 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Neonatal death, Polyhydramnios |
OMIM:300219 |
Tetanus |
|
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia |
ORPHA:3299 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:89844 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QT interval, Tachycardia, Pulmonary edema, Prolonged QRS complex,... |
ORPHA:90068 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Periorbital edema, Atelectasis, ... |
ORPHA:73263 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... |
ORPHA:141083 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Postnatal growth retardation, Congestive ... |
ORPHA:3309 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Cardiac arrest, Hypertrophic cardiomyopathy, Inspiratory stridor, Irregular... |
OMIM:604377 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Growth delay, Pulmonary arterial hypertension, Bradycardia, Respiratory distress |
OMIM:619272 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Intrauterine growth retardation |
OMIM:619793 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
OMIM:211530 |
Fusariosis |
|
Sinusitis, Lung abscess, Pneumonia, Productive cough, Hypersensitivity pneumonitis, Bronchiectasi... |
ORPHA:228119 |
Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Heart block, Congest... |
ORPHA:185 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Short stature, Mesomelic short stature, P... |
OMIM:184260 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... |
ORPHA:348 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Pleural effusion, Anasarca, Edema |
OMIM:254900 |
Leptospirosis |
|
Respiratory distress, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subc... |
ORPHA:509 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary artery stenos... |
OMIM:265380 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Pedal edema, Cardiorespiratory arrest, Cough, Pulmonary ... |
ORPHA:228116 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Dyspnea, Congestive heart failure, Heart murmur, Cough |
ORPHA:1054 |
Immunodeficiency 87 And Autoimmunity |
|
Dilated cardiomyopathy, Growth delay, Pulmonary arterial hypertension, Hypertension, Anasarca, Th... |
OMIM:619573 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Supraventricul... |
ORPHA:97214 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Telangiectasia |
OMIM:608799 |
Diaphanospondylodysostosis |
|
Respiratory distress, Increased nuchal translucency, Disproportionate short-trunk short stature, ... |
OMIM:608022 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
Colchicine Poisoning |
|
Respiratory distress, Congestive heart failure, Myocarditis, Hypovolemia, Cardiorespiratory arres... |
ORPHA:31824 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands |
ORPHA:544503 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Polyhydramnios |
OMIM:202650 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Edema, Respiratory tract infection, Dyspnea, Myocarditis, Hypertension, Pleural empyem... |
ORPHA:544482 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Rhizomelia, Polyhydramnios, Stillbirth, Pulmonary hypoplasia, Neonatal shor... |
OMIM:151210 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage, Dehydration |
OMIM:251000 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Polyhydramnios, Congestive heart failure, Recurrent pneumonia, ... |
OMIM:616271 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short stature |
OMIM:617102 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Shock, Crackles, Facial edema, Nonproductive cough, Periorbital edema, Atel... |
ORPHA:319213 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Neo... |
OMIM:608013 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Cerebral ischemia |
ORPHA:927 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Increased nuchal translucency, Intrauterine growth retardation, Pleural effusion |
ORPHA:453499 |
Rodrigues Blindness |
|
Nasal flaring, Short stature |
OMIM:268320 |
Pancreatitis, Hereditary |
|
Pleural effusion |
OMIM:167800 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Cough, Pleural effusion, Ascites |
OMIM:306400 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Generalized edema |
OMIM:271225 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary... |
ORPHA:117 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Pneumonia, Vasculitis, Vasospasm, Pleural empyema, Cerebral i... |
ORPHA:228123 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Bradycardia |
ORPHA:226313 |
Familial Mediterranean Fever |
|
Pleural effusion, Pleuritis, Pericarditis |
OMIM:249100 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Growth delay, Dyspnea, Respiratory failure, Respiratory distress |
ORPHA:2707 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short stat... |
ORPHA:209905 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Short stature |
OMIM:606164 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Epistaxis, Edema, Pericardial effusion, Pleural effusion |
ORPHA:167 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
Farber Disease |
|
Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent up... |
ORPHA:333 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fi... |
ORPHA:980 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dyspnea, Cardiomyopathy, Bradycardia, Pa... |
OMIM:615745 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Polyhydramnios, Edema, Generalized... |
ORPHA:79330 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Shock, Tachycardia, Sinusitis, Pneumonia, Edema, Respiratory tract infectio... |
ORPHA:36234 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Growth delay, Intrau... |
OMIM:612863 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Rhizomelia, Polyhydramnios, Edema, Recurrent upper respiratory tract infect... |
OMIM:607143 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Hypertrophic cardiomyopathy |
OMIM:619383 |
Chronic Graft Versus Host Disease |
|
Dyspnea, Wheezing, Pneumothorax, Xerostomia, Bronchiectasis, Bronchiolitis obliterans, Cough, Ple... |
ORPHA:99921 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Fetal ascites, Polyhydramnios, Neonatal asphyxia, Abnormal lung morphology,... |
ORPHA:141127 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Tachypn... |
ORPHA:31826 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Hype... |
OMIM:220110 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Palpebral edema, Polyhydramnios |
ORPHA:50810 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Dyspnea,... |
ORPHA:3342 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Kniest Dysplasia |
|
Respiratory distress, Rhizomelia, Tracheomalacia, Disproportionate short-trunk short stature |
OMIM:156550 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Congestive heart failure,... |
OMIM:615512 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections, Polyhydramnios |
ORPHA:329178 |
Primary Sclerosing Cholangitis |
|
Portal hypertension, Spider hemangioma, Congestive heart failure, Palmar telangiectasia, Pleural ... |
ORPHA:171 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory tract infection, Atelecta... |
ORPHA:365 |
Brucellosis |
|
Pericarditis, Lung abscess, Transient ischemic attack, Pneumonia, Bronchitis, Myocarditis, Pulmon... |
ORPHA:1304 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Polyhydramnios, Congestive heart failure, Intrauterine growth retardation, ... |
OMIM:617156 |
Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,... |
OMIM:164310 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Polyhydramnios |
ORPHA:990 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pulmonary hypoplasia, Neonatal death |
OMIM:231680 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund... |
ORPHA:75565 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Co... |
OMIM:617303 |
Sepsis In Premature Infants |
|
Tachycardia, Abnormal mucociliary clearance, Edema, Dyspnea, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
Achondroplasia |
|
Respiratory distress, Rhizomelia, Polyhydramnios, Upper airway obstruction, Pulmonary hypoplasia,... |
OMIM:100800 |
Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of... |
ORPHA:98914 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Gastrointestinal hemorrhage, Abnormal ple... |
ORPHA:537 |
Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Joint swelling, Pulmonary fibrosis |
OMIM:612852 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Bronchitis, Polyhydramnios, Episodic resp... |
ORPHA:1199 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Transient ischemic attack, Myocardial infarction |
OMIM:274150 |
Kikuchi-Fujimoto Disease |
|
Palpebral edema, Myocarditis, Vasculitis, Abnormal pulmonary interstitial morphology, Vasculitis ... |
ORPHA:50918 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Cardiomyopathy, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
Multiple Myeloma |
|
Pleural effusion |
ORPHA:29073 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Short stature |
OMIM:610536 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Abnormal heart rate variability |
ORPHA:206436 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Respira... |
ORPHA:536467 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten... |
OMIM:606721 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Cardiac conduction abnormality, Abnormal T-wave, Dehydration, Cardio... |
ORPHA:2131 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Rhizomelia, Short stature, Recurrent pneumonia, Chronic lung disease |
OMIM:613848 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... |
ORPHA:505248 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fe... |
ORPHA:79282 |
Diamond-Blackfan Anemia 10 |
|
Growth delay, Short stature, Respiratory distress |
OMIM:613309 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect, Neonatal short-trunk short stature |
OMIM:183900 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Dehydration |
OMIM:251110 |
Japanese Encephalitis |
|
Respiratory distress, Pulmonary edema, Respiratory paralysis, Abnormal pattern of respiration, Ce... |
ORPHA:79139 |
Mgat2-Cdg |
|
Respiratory distress, Hydrops fetalis, Reflex asystolic syncope, Arrhythmia, Recurrent upper and ... |
ORPHA:79329 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Edema, Dyspnea, Pneumothorax, Dilated cardiomyopathy, Dehydratio... |
ORPHA:79404 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hypertension |
ORPHA:1555 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Recurrent lower respiratory... |
OMIM:618426 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Short stature |
OMIM:260400 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Short stature |
OMIM:300968 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis |
ORPHA:210122 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:99125 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Dehydration |
OMIM:251100 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
Gitelman Syndrome |
|
Respiratory distress, Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Low-to-nor... |
ORPHA:358 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Cardiac conduction abnormality, Dyspnea, Episodic respiratory distress, Dilated cardiomyop... |
ORPHA:255210 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Apnea, Growth delay, Hypertrophic cardiom... |
ORPHA:17 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Severe short stature, Xerostomia |
ORPHA:1051 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Short stature, Intrauterine growth retard... |
ORPHA:177907 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Intrauter... |
ORPHA:2554 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Growth delay, Ascites, Short stature, Respiratory distress |
OMIM:256810 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hypertension |
OMIM:123790 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Polyhydramnios |
OMIM:618188 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Polyhydramnios, Tracheobronchomalacia... |
OMIM:114290 |
Singleton-Merten Syndrome 1 |
|
Recurrent respiratory infections, Short stature, Congestive heart failure, Aortic valve stenosis,... |
OMIM:182250 |
Listeriosis |
|
Respiratory distress, Pericarditis, Pneumonia, Congestive heart failure, Myocarditis, Respiratory... |
ORPHA:533 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Severe short stature, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopa... |
ORPHA:2556 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Interstitial pneumonitis, Pneumonia |
ORPHA:37042 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Short stature, Apnea, Asthma, Intrauterine growth retardation, Oligohydramnios |
ORPHA:3206 |
Meier-Gorlin Syndrome 1 |
|
Birth length less than 3rd percentile, Intrauterine growth retardation, Emphysema, Respiratory di... |
OMIM:224690 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Postnatal growth retardation, Pneumothorax, Birth length less than 3rd perc... |
ORPHA:3404 |
Adnp Syndrome |
|
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections, Short stature |
ORPHA:404448 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Upper eyel... |
OMIM:616268 |
Osteoglophonic Dysplasia |
|
Growth delay, Severe short stature, Rhizomelia, Respiratory distress |
OMIM:166250 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Hypertension, Respiratory failure, Internal he... |
ORPHA:805 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Moderately short stature, Short stature, Neonatal respiratory distress |
OMIM:119600 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hypoplasia, Respiratory ... |
ORPHA:83617 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Polyhydramnios, Total anomalous pulmonary venous r... |
OMIM:306955 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Short stature, Polyhydramnios, Postnatal growth retardation, Respiratory tr... |
OMIM:180849 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Transient ischemic attack, Polyhydramnios, Edema, Pericardial effusion, Hyd... |
ORPHA:51608 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... |
OMIM:614748 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:615273 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Pulmonary artery stenosis, Pulmonic stenosis, Intrauterine growth retardati... |
ORPHA:2255 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Short... |
ORPHA:508488 |
Plague |
|
Respiratory distress, Tachycardia, Edema, Hematemesis, Acute infectious pneumonia, Hypotension, A... |
ORPHA:707 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis |
OMIM:305100 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Short stature, Polyhydramnios |
OMIM:617088 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring |
ORPHA:466943 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia |
ORPHA:798 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Xerostomia, ... |
ORPHA:95455 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Short stature, Cardiomyopathy, Delayed puberty, Recurrent upper and lower r... |
ORPHA:480880 |
Doors Syndrome |
|
Respiratory distress, Polyhydramnios, Aspiration pneumonia |
ORPHA:79500 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Short stature, Recurrent pneumonia, Growth delay, Intrauterine growth retar... |
ORPHA:99646 |
Pmm2-Cdg |
|
Respiratory distress, Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Intracrani... |
ORPHA:79318 |
Alström Syndrome |
|
Respiratory distress, Short stature, Portal hypertension, Congestive heart failure, Recurrent upp... |
ORPHA:64 |