Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Cough, Abnormal cardiovascular system physiolog... |
ORPHA:50251 |
Parana Hard-Skin Syndrome |
|
Severe postnatal growth retardation, Respiratory insufficiency |
OMIM:260530 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Mild postnatal growth retardation, Pulmonary lymphangiectasia, Chylous... |
OMIM:265300 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chylopericardium, Tricuspid regurgitation, Chronic pulmonary obstruction, P... |
ORPHA:2414 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Primary Effusion Lymphoma |
|
Dyspnea, Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Tracheopathia Osteoplastica |
|
Dyspnea, Wheezing, Recurrent pneumonia, Cough |
OMIM:189961 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Angioedema, ... |
ORPHA:100057 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Pulmonary edema, Tachypnea, Edema, Neonatal respiratory distress, Dyspnea |
OMIM:267450 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular failure, Abnormal r... |
ORPHA:70589 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... |
OMIM:610476 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Pleural effusion, Constrictive pericarditis |
OMIM:602248 |
Radio-Renal Syndrome |
|
Respiratory distress, Severe short stature, Chylothorax, Pleural effusion, Dyspnea, Respiratory f... |
ORPHA:3015 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Hypotensi... |
ORPHA:36238 |
Lymphatic Malformation 6 |
|
Facial edema, Chylothorax, Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnio... |
OMIM:616843 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Abnormal ... |
OMIM:612387 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Hydrops f... |
ORPHA:45452 |
Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Nonpr... |
ORPHA:79126 |
Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Right ventricular failure... |
ORPHA:199241 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Cough |
ORPHA:64741 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... |
OMIM:619773 |
Pneumocystosis |
|
Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial... |
ORPHA:723 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Intrauterine growth retardation, Neonatal death, Pulmonary arterial hyperte... |
OMIM:619751 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Short stature, Polyhydramnios, Dilated cardiomyopathy, Respiratory insuffic... |
OMIM:300580 |
Lymphangioleiomyomatosis |
|
Chylopericardium, Chylothorax, Cough, Pneumothorax, Lymphedema, Restrictive ventilatory defect, E... |
ORPHA:538 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Recurrent u... |
ORPHA:60032 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Short stature |
ORPHA:2374 |
Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:612877 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... |
OMIM:263000 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crazy paving pattern, Crackles, Tachycardia, Acute infectious pneumonia, Ta... |
ORPHA:264675 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Severe short stature, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Systemic Capillary Leak Syndrome |
|
Pulmonary edema, Arrhythmia, Hypotension, Myocarditis, Cough, Pedal edema, Rhinorrhea, Pleural ef... |
ORPHA:188 |
Capillary Malformation-Arteriovenous Malformation |
|
High-output congestive heart failure, Chylothorax, Nonimmune hydrops fetalis, Cerebral ischemia, ... |
ORPHA:137667 |
Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Cough, Decreased DLCO, Usual interstitial pneumonia, Dyspnea, Exertional... |
OMIM:178500 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Bronchiectasis, Reduced FEV1/FVC ratio, Airway ob... |
ORPHA:1303 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Pleural effusion, Generalized ... |
ORPHA:1041 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Nonproductive cough, Crackles, Wheezing, Restrictive ventilatory defect, Pleural effusion... |
ORPHA:2902 |
Gaucher Disease Type 2 |
|
Respiratory distress, Cough, Abnormal pattern of respiration, Cardiac arrest, Recurrent respirato... |
ORPHA:77260 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Wild Type Attr Amyloidosis |
|
Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Abnormal pulmo... |
ORPHA:330001 |
Aspergillosis |
|
Asthma, Sinusitis, Chronic pulmonary obstruction, Hypersensitivity pneumonitis, Intracranial hemo... |
ORPHA:1163 |
Laryngeal Web, Familial |
|
Respiratory distress, Recurrent upper respiratory tract infections, Stridor |
OMIM:150360 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Neonatal respiratory distress, Polyhydramnios, Chylothorax |
OMIM:619036 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... |
OMIM:234810 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation |
ORPHA:1832 |
Avian Influenza |
|
Respiratory distress, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productive cough, Pneu... |
ORPHA:454836 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Pulmonary insufficiency, Wheezing, Pneumot... |
ORPHA:70588 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Postnatal growth retardation, Pulmonary hypoplasia, Hypertension, Oligohydr... |
OMIM:616733 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Dyspnea, Heart block, Congestive heart failure |
ORPHA:871 |
Acute Lung Injury |
|
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Shock, Pneumonia, Ed... |
ORPHA:178320 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infections, Bronchiec... |
OMIM:619466 |
Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Tachycardia, Hypotension, Tachypnea, Respiratory failure, Pneumonia, Respiratory... |
ORPHA:70587 |
Pulmonary Arteriovenous Malformation |
|
Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Palpitations, Heart murmur, Co... |
ORPHA:2038 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Follicular Lymphoma |
|
Lymphedema, Pleural effusion |
ORPHA:545 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Aortic valve stenosis, Chylothorax, Short stature, Mitral regurgitation, Polyhydramnios, Lymphedema |
OMIM:613563 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pulmonary edema, Tachycardia, Arrhythmia, Hypotension, Tachypnea, Reduced left ventricular ejecti... |
ORPHA:542323 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... |
ORPHA:60033 |
Scedosporiosis |
|
Sinusitis, Pleural empyema, Cough, Pleuritis, Bronchitis, Pneumonia, Abnormal respiratory system ... |
ORPHA:449280 |
Tempi Syndrome |
|
Abnormality of the pulmonary vasculature, Intracranial hemorrhage, Hypoxemia, Telangiectasia, Tra... |
ORPHA:284227 |
Hennekam Syndrome |
|
Chylothorax, Mild postnatal growth retardation, Pulmonary lymphangiectasia, Respiratory insuffici... |
ORPHA:2136 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral edema, Hydrops fetalis, Pla... |
ORPHA:69735 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... |
ORPHA:1302 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... |
ORPHA:922 |
Meige Disease |
|
Predominantly lower limb lymphedema, Facial edema, Edema of the dorsum of hands, Laryngeal edema,... |
ORPHA:90186 |
Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... |
OMIM:619611 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Bronchiolitis, Recurrent respiratory infections |
OMIM:615993 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... |
OMIM:616414 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Sudden cardiac death, Palpitations, Orthopnea, Syncope, Ventricular tac... |
OMIM:613838 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Hypertrophic cardiomyopathy, Low-output congestive heart failure |
ORPHA:91130 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, P... |
ORPHA:75249 |
Idiopathic Pulmonary Fibrosis |
|
Pulmonary insufficiency, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... |
ORPHA:2032 |
Tularemia |
|
Respiratory distress, Tachycardia, Cough, Pleural effusion, Pneumonia |
ORPHA:3392 |
Hypocomplementemic Urticarial Vasculitis |
|
Airway obstruction, Cough, Angioedema, Restrictive ventilatory defect, Emphysema, Pleural effusio... |
ORPHA:36412 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... |
ORPHA:91359 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Tricuspid regurgitation, Palpitations, Midsystolic murmur, Arrhythmia, Syncope, Atrial fibrillati... |
ORPHA:1677 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Hepatojugular reflux, Respiratory failure,... |
ORPHA:2302 |
Amoebiasis Due To Entamoeba Histolytica |
|
Pleural empyema, Constrictive pericarditis, Cough, Pleural effusion, Dyspnea, Lung abscess, Conge... |
ORPHA:67 |
Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Hypovolemia, Peripheral edema, Pleural effusion, Generalized edema, Ascites, Cap... |
ORPHA:64739 |
Noonan Syndrome 8 |
|
Short stature, Pulmonic stenosis, Mitral regurgitation, Polyhydramnios, Pleural effusion, Hypertr... |
OMIM:615355 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Facial edema, Palpebral edema, Pulmonary embolism, Pedal edema, Anasarca, Edema, Pleural effusion... |
ORPHA:567546 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hypertrophic cardiomyopathy |
OMIM:604377 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Intrauterine growth retardation, Cardiomyopathy |
ORPHA:26792 |
Pontocerebellar Hypoplasia, Type 13 |
|
Asthma, Sleep apnea, Pleural effusion, Edema, Recurrent respiratory infections |
OMIM:618606 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Polyhydramnios, Edema |
ORPHA:1423 |
Congenital Enterovirus Infection |
|
Respiratory distress, Hydrops fetalis, Hypotension, Myocarditis, Polyhydramnios, Pericardial effu... |
ORPHA:292 |
Sarcoidosis |
|
Joint swelling, Bronchiectasis, Chylothorax, Arrhythmia, Abnormal pleura morphology, Cough, Pneum... |
ORPHA:797 |
Monosodium Glutamate Sensitivity |
|
Dyspnea, Palpitations |
OMIM:231630 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Joint swelling, Pericarditis, Pleural effusion |
ORPHA:85414 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascular system phys... |
ORPHA:422 |
Hemochromatosis, Type 1 |
|
Arrhythmia, Pleural effusion, Telangiectasia, Ascites, Cardiomyopathy, Congestive heart failure |
OMIM:235200 |
Immunodeficiency 91 And Hyperinflammation |
|
Pulmonary hemorrhage, Abnormal pulmonary interstitial morphology, Recurrent lower respiratory tra... |
OMIM:619644 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Cerebral hemorrhage, Respiratory insufficiency, Pleural effu... |
OMIM:617397 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Atrial arrhyt... |
ORPHA:99105 |
Ovarian Fibroma |
|
Ascites, Pleural effusion |
ORPHA:314473 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Severe short stature, Chylothorax, Lymphedema, Pleural effusion, Edema |
ORPHA:2526 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Left bundle branch block, Congestive heart failure, Pulmonary edema, Sudden... |
OMIM:115197 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough |
ORPHA:99825 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect |
OMIM:614399 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Pleural effusion, Hypertrophic cardiomyopa... |
OMIM:616897 |
Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... |
OMIM:113900 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Intraalveolar phosp... |
OMIM:265120 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Wheezing, Cough, Bronchie... |
OMIM:613490 |
Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia, Short stature, Abnormal pulmonary interstitial morphology, ... |
OMIM:617180 |
Ring Chromosome 22 Syndrome |
|
Growth delay, Pleural effusion, Lymphedema, Edema |
ORPHA:1446 |
Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... |
ORPHA:217607 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Angina pectoris, Right bundle branch block, Dyspnea, Atrial fibrillation, Hypertrophic cardiomyop... |
OMIM:115195 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Respiratory insufficiency due to muscle weakness, Right axis devi... |
OMIM:232300 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... |
OMIM:614370 |
Solar Urticaria |
|
Wheezing, Syncope, Angioedema, Edema, Periorbital edema, Dyspnea |
ORPHA:97230 |
Acquired Methemoglobinemia |
|
Respiratory distress, Palpitations, Tachycardia, Arrhythmia, Syncope, Hypoxemia, Dyspnea |
ORPHA:464453 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Cystic pattern on pulmo... |
OMIM:610978 |
Fryns Syndrome |
|
Polyhydramnios, Stillbirth, Pulmonary hypoplasia, Chylothorax |
OMIM:229850 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... |
ORPHA:254875 |
Gorham-Stout Disease |
|
Edema, Pleural effusion, Rhinorrhea |
ORPHA:73 |
Slc35A1-Cdg |
|
Respiratory distress, Pulmonary hemorrhage, Hypoxemia, Pneumonia |
ORPHA:238459 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Pedal edema, Respiratory f... |
ORPHA:563 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension |
ORPHA:247257 |
Noonan Syndrome 1 |
|
Chylothorax, Short stature, Pulmonic stenosis, Lymphedema, Postnatal growth retardation, Hypertro... |
OMIM:163950 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Crackles, Abnormal pleura morphology, Cough, Abnormal breath sound, Portal hypertension, Restrict... |
ORPHA:210136 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Ret... |
ORPHA:133 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Polyhydramnios, Pneumon... |
ORPHA:596 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Melena, Pulmonary edema, Hematemesis, Palpitations, Tachycardia, Intracrani... |
ORPHA:340 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent re... |
OMIM:606763 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Intestinal edema, Pharyngeal edema, Facial edema, Tongue edema, Hypotension... |
ORPHA:100050 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Pediatric Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Pleural effusion, Edema, Dyspnea, Ascites, Pericardial effusion |
ORPHA:93552 |
Malignant Atrophic Papulosis |
|
Telangiectasia of the skin, Myocardial infarction, Pleural effusion, Gastrointestinal hemorrhage,... |
ORPHA:679 |
Ovarian Fibrothecoma |
|
Ascites, Pleural effusion |
ORPHA:314478 |
Waldenström Macroglobulinemia |
|
Respiratory insufficiency, Retinal hemorrhage, Vasculitis, Pedal edema, Periorbital edema, Pleura... |
ORPHA:33226 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Cough, Pleural effusion, Subconjunctival hemorrhage, Dyspnea, Abnormal lung ... |
ORPHA:464329 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dyspnea, Stridor |
ORPHA:142 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Angina pectoris, Palpitations, Ventricular tachycardia, Dyspnea, Atrial fibrillation, Hypertrophi... |
OMIM:613873 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... |
OMIM:612098 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Ascites, Nonimmune hydrops fetalis, Pleural effusion |
OMIM:617049 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... |
ORPHA:1329 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... |
OMIM:608758 |
Idiopathic Pulmonary Arterial Hypertension |
|
Edema of the dorsum of feet, Tricuspid regurgitation, Palpitations, Elevated pulmonary artery pre... |
ORPHA:275766 |
Primary Intestinal Lymphangiectasia |
|
Pleural effusion, Edema, Generalized edema, Growth delay, Ascites, Pericardial effusion |
ORPHA:90362 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Oligohydramnios, Intrauterine growth retardation |
ORPHA:261304 |
Q Fever |
|
Respiratory distress, Abnormal left ventricular function, Vasculitis, Myocarditis, Abnormal pulmo... |
ORPHA:781 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Restrictive ventilatory defect, Edema, Pleural effusion, Ascites... |
ORPHA:2905 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cardiomyopathy, Cough |
ORPHA:86812 |
Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular failure, Syncope, Exertional dyspnea, Pulmonary arterial hyper... |
OMIM:265400 |
Stt3B-Cdg |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:370924 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Pulmonary fibrosis, Recurrent pneumonia, Pleural effusion, Short stature |
OMIM:618935 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection |
OMIM:620011 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Pneumonia, Restrictive ventilator... |
OMIM:610910 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
Pulmonary Hypertension, Primary, 3 |
|
Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary... |
OMIM:615343 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Polyhydramnios, Anasarca, Pleural effusion, Ascites, Pericardial effusion |
OMIM:618183 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Pulmonary aterial intimal fibrosis, Right ventricular failure, Co... |
OMIM:178600 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Polyhydramnios |
OMIM:618188 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Intrauterine growth retardation |
OMIM:615597 |
Mercury Poisoning |
|
Respiratory distress, Interstitial pneumonitis, Tachycardia, Hypotension, Dyspnea, Hypertension, ... |
ORPHA:330021 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Polyhydramnios, Atrial flutter, Atrial fibrillation, First degree atriovent... |
OMIM:160900 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pedal edema, Pneumonia, T... |
ORPHA:99103 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Systolic heart murmur, Right bundle branch block, Atrioventricular block, Pal... |
ORPHA:99106 |
Nocardiosis |
|
Respiratory distress, Nonproductive cough, Pneumothorax, Pleuritis, Productive cough, Pneumonia, ... |
ORPHA:31204 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Polyhydramnios, Dyspnea, Respiratory failure, Recurrent respiratory infections |
ORPHA:2759 |
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
|
Hypertension, Pleural effusion, Pericardial effusion, Granulomatous coronary arteritis |
OMIM:108050 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Hellp Syndrome |
|
Pulmonary edema, Cerebral hemorrhage, Hypotension, Internal hemorrhage, Pleural effusion, General... |
ORPHA:244242 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Oligohydramnios, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Pulmonary edema, Vasculitis, Hypotension, Shock, Pneumonia, Hypoxemia, ... |
ORPHA:70578 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Respiratory distress, Joint swelling, Asthma, Vasculitis in the skin... |
ORPHA:3260 |
Erdheim-Chester Disease |
|
Joint swelling, Abnormal pulmonary interstitial morphology, Cough, Pleural effusion, Dyspnea, Pul... |
ORPHA:35687 |
Noonan Syndrome 10 |
|
Mitral stenosis, Short stature, Pulmonic stenosis, Mitral regurgitation, Pleural effusion, Hypert... |
OMIM:616564 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Pleural lymphangiectasia, Lymphedema, Pleural effusion, Perior... |
OMIM:235510 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:615042 |
Cryptococcosis |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Cough, Pneumonia, Pleural effusion, Dysp... |
ORPHA:1546 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
Sarcoidosis, Susceptibility To, 1 |
|
Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Abnormal pulmonary inters... |
OMIM:181000 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Left ventricular outflow tract obstruction, Respiratory insufficiency, Hear... |
ORPHA:308552 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... |
ORPHA:95430 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Respiratory insufficiency, Nonimmune hydrops fetalis, Polyhydramnios, Dilat... |
ORPHA:367 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Abnormal nasal mucus secretion, Chronic sinusitis, Upper ai... |
ORPHA:137914 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Pulmonary venous hypertension, Left ventricular outflow tract obstruction, Systo... |
ORPHA:3092 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stridor, Rec... |
OMIM:211530 |
Aortic Arch Interruption |
|
Intermittent claudication, Respiratory distress, Blood pressure substantially higher in arms than... |
ORPHA:2299 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Dehydration, Cardiomyopathy |
ORPHA:79312 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Right ventricular failure, Chylous ascites, Constrictive pericarditis, Intes... |
ORPHA:90363 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Systolic heart murmur, Right ventricular failure, Right-to-left shunt, A... |
ORPHA:439 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... |
ORPHA:66529 |
Laryngotracheoesophageal Cleft |
|
Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor, Recurrent respiratory infections |
ORPHA:2004 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Respiratory distress, Prolonged QRS complex, Pulmonary edema, Cerebr... |
ORPHA:90068 |
Craniofaciofrontodigital Syndrome |
|
Persistent fetal circulation, Respiratory distress, Aortic valve stenosis, Lower eyelid edema, Sh... |
ORPHA:363705 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Systolic heart murm... |
ORPHA:99095 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Growth delay |
ORPHA:289916 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Growth delay, Tachypnea |
ORPHA:79242 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:89844 |
Tetanus |
|
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia |
ORPHA:3299 |
Odontochondrodysplasia |
|
Respiratory distress, Short stature |
ORPHA:166272 |
Tetrasomy 5P |
|
Respiratory distress, Heart murmur, Pulmonary hypoplasia, Postnatal growth retardation, Pulmonary... |
ORPHA:3309 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Intrauterine growth retardation |
OMIM:619793 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Fusariosis |
|
Sinusitis, Lung abscess, Productive cough, Pneumonia, Pleural effusion, Bronchiectasis, Hypersens... |
ORPHA:228119 |
Zygomycosis |
|
Melena, Sinusitis, Hematemesis, Myocarditis, Hematochezia, Acute infectious pneumonia, Cough, Rhi... |
ORPHA:73263 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Tachycardia, Arrhythmia, Tachypnea, Dilated cardiomyopa... |
ORPHA:26793 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Growth delay, Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress |
OMIM:618426 |
Nasolacrimal Duct Cyst |
|
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Periorbital edema,... |
ORPHA:141083 |
Multiple Carboxylase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:148 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short stature |
OMIM:617102 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary insufficiency, Pulmonary lymphangiectasia, Right-to-left shunt, Nonimmune hydrops fetal... |
OMIM:265380 |
Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Respiratory insufficiency, Disproportionate short-trunk sho... |
OMIM:608022 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Tachycardia, Apneic episodes in infancy, Dyspnea, Inter... |
ORPHA:348 |
Leptospirosis |
|
Respiratory distress, Pulmonary hemorrhage, Arrhythmia, Retinal hemorrhage, Hypotension, Cough, P... |
ORPHA:509 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Polyhydramnios, Neonatal death |
OMIM:300219 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Short stature, Pulmonary hypoplasia, Mesomelic short stature, Recurrent res... |
OMIM:184260 |
Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Pulmonary embolism, Vasculitis, Cough, Pedal edema, Cardiorespiratory ... |
ORPHA:228116 |
Atrial Septal Defect, Coronary Sinus Type |
|
Supraventricular arrhythmia, Bundle branch block, Anomalous pulmonary venous return, Left-to-righ... |
ORPHA:99104 |
Scimitar Syndrome |
|
Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous return, Left-to-right s... |
ORPHA:185 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Respiratory distress, Heart murmur, Pedal edema, Ri... |
ORPHA:97214 |
Aneurysm Of Sinus Of Valsalva |
|
Cough, Heart murmur, Aortic regurgitation, Edema, Dyspnea, Congestive heart failure |
ORPHA:1054 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pleural empyema, Myocarditis, Pleuritis, Pneumonia, Hypertensive crisis, Generalized edema, Hyper... |
ORPHA:544482 |
Colchicine Poisoning |
|
Respiratory distress, Hypovolemia, Dehydration, Arrhythmia, Cardiogenic shock, Hypotension, Myoca... |
ORPHA:31824 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Telangiectasia |
OMIM:608799 |
Immunodeficiency 87 And Autoimmunity |
|
Growth delay, Third degree atrioventricular block, Pulmonary arterial hypertension, Dilated cardi... |
OMIM:619573 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands |
ORPHA:544503 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Dehydration, Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Dehydration, Polyhydramnios, Rhizomelia, Recurrent pneumonia, Growth delay,... |
OMIM:616271 |
Pancreatitis, Hereditary |
|
Pleural effusion |
OMIM:167800 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Apnea, Pulmonic stenosis, Mitral regurgitation, Central hypoventilation, Di... |
ORPHA:70474 |
Rodrigues Blindness |
|
Nasal flaring, Short stature |
OMIM:268320 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Sleep apnea, Respiratory insufficiency, Recurrent lower respiratory tract i... |
ORPHA:98915 |
Behçet Disease |
|
Mitral regurgitation, Pulmonary embolism, Vasculitis, Cerebral ischemia, Myocardial infarction, A... |
ORPHA:117 |
Coccidioidomycosis |
|
Respiratory distress, Pleural empyema, Vasculitis, Cerebral ischemia, Cough, Vasospasm, Pneumonia... |
ORPHA:228123 |
Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Interlobular septal thickening, Bronchiectasis, Subpleural inter... |
ORPHA:60025 |
Familial Mediterranean Fever |
|
Pleuritis, Pericarditis, Pleural effusion |
OMIM:249100 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Pulmonary... |
OMIM:608013 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Intrauterine growth retardation, Increased nuchal translucency, Pleural effusion |
ORPHA:453499 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Bradycardia |
ORPHA:226313 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:617895 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Asthma, Recurrent respiratory infections, Short stature, Abnormal pulmonary... |
ORPHA:209905 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Polyhydramnios, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure, Growth delay |
ORPHA:2707 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Cerebral ischemia |
ORPHA:927 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Generalized edema |
OMIM:271225 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Short stature |
OMIM:606164 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation |
ORPHA:314655 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Chédiak-Higashi Syndrome |
|
Pleural effusion, Edema, Epistaxis, Pericardial effusion, Recurrent respiratory infections |
ORPHA:167 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Facial edema, Nonproductive cough, Crackles, Hypotension, Myocarditis, Shoc... |
ORPHA:319213 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Growth delay, Intrauterine growth retardation, Per... |
OMIM:612863 |
Atrial Standstill 2 |
|
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dyspnea... |
OMIM:615745 |
Renal Dysplasia-Limb Defects Syndrome |
|
Respiratory distress, Intrauterine growth retardation, Neonatal death, Pulmonary hypoplasia, Pneu... |
OMIM:266910 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Absence Of The Pulmonary Artery |
|
Bronchiectasis, Growth delay, Pulmonary edema, Systolic heart murmur, Nonproductive cough, Tachyc... |
ORPHA:980 |
Granulomatous Disease, Chronic, X-Linked |
|
Ascites, Recurrent pneumonia, Pleural effusion, Cough |
OMIM:306400 |
Ethylene Glycol Poisoning |
|
Episodic respiratory distress, Pulmonary edema, Tachycardia, Abnormal pattern of respiration, Hyp... |
ORPHA:31826 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Tachycardia, Hypotension, Myocarditis, Tachypnea, Shock, Pneumon... |
ORPHA:36234 |
Congenital Myasthenic Syndrome |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Intermittent episodes of ... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Intermittent episodes of ... |
ORPHA:98914 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Exertional dyspnea, Hypertrophic cardiomyopathy, Respiratory failure, Respi... |
OMIM:220110 |
Chronic Graft Versus Host Disease |
|
Airway obstruction, Bronchiolitis obliterans, Xerostomia, Cough, Wheezing, Pneumothorax, Pleural ... |
ORPHA:99921 |
Mogs-Cdg |
|
Respiratory distress, Apnea, Pulmonary edema, Polyhydramnios, Edema, Generalized edema, Hypoventi... |
ORPHA:79330 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Hypertrophic cardiomyopathy, Recurrent respiratory infections |
OMIM:619383 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Polyhydramnios, Palpebral edema |
ORPHA:50810 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Anomalous origin of left pulmonary artery from ascending aorta, Neonatal as... |
ORPHA:141127 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency, Oligohydramnios, Respiratory failure, Respirator... |
OMIM:615512 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Polyhydramnios, Recurrent respiratory infections |
ORPHA:329178 |
Brucellosis |
|
Transient ischemic attack, Myocarditis, Pericarditis, Bronchitis, Pulmonary granulomatosis, Pneum... |
ORPHA:1304 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Dyspnea, Myocarditis, Myocardial infarction, Di... |
ORPHA:3342 |
Kniest Dysplasia |
|
Respiratory distress, Rhizomelia, Disproportionate short-trunk short stature, Tracheomalacia |
OMIM:156550 |
Farber Disease |
|
Respiratory distress, Joint swelling, Nodular pattern on pulmonary HRCT, Short stature, Respirato... |
ORPHA:333 |
Primary Sclerosing Cholangitis |
|
Palmar telangiectasia, Spider hemangioma, Portal hypertension, Pleural effusion, Ascites, Congest... |
ORPHA:171 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Sleep apnea, Left ventricular outflow tract obstruction, Respiratory insuff... |
ORPHA:365 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Polyhydramnios |
ORPHA:990 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pulmonary hypoplasia, Neonatal death |
OMIM:231680 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Dilated cardiomyopathy, Restric... |
OMIM:164310 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent bronchopulmonary infections, Recurrent pneumonia, Hypertrophic ca... |
OMIM:617303 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Episodic respiratory distress, Episodic hypoventilation, Recurrent respiratory infections |
OMIM:301790 |
Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... |
ORPHA:75565 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Joint swelling, Pulmonary fibrosis |
OMIM:612852 |
Sepsis In Premature Infants |
|
Tachycardia, Abnormal respiratory system physiology, Hypotension, Abnormal mucociliary clearance,... |
ORPHA:90051 |
Kikuchi-Fujimoto Disease |
|
Vasculitis in the skin, Palpebral edema, Abnormal pulmonary interstitial morphology, Vasculitis, ... |
ORPHA:50918 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Myocardial infarction, Transient ischemic attack |
OMIM:274150 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Sudden cardiac death, Abnormal pleura morphology, Cough, Restrictive ventil... |
ORPHA:537 |
Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... |
ORPHA:1199 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Cardiomyopathy, Tracheomalacia |
OMIM:217980 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Pulmonary arteriovenous malformation, Spontaneous pneumothorax, Pleural ... |
OMIM:606721 |
Multiple Myeloma |
|
Pleural effusion |
ORPHA:29073 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Short stature |
OMIM:610536 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Abnormal T-wave, Dehydration, Arrhythmia, Cardiac conduction abnorma... |
ORPHA:2131 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Abnormal heart rate variability |
ORPHA:206436 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Airway obstruction, Tricuspid regurgitation, Hypertrophic cardiomyopathy, M... |
ORPHA:505248 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Dehydration |
OMIM:251110 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Subdural hemorrhage, Dehydration, Hydrops fetalis, Pulmonary embolism, Dila... |
ORPHA:79282 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Growth delay, Short stature |
OMIM:613309 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Neonatal short-trunk short stature, Restrictive ventilatory defect |
OMIM:183900 |
Auriculocondylar Syndrome |
|
Respiratory distress, Snoring, Obstructive sleep apnea |
ORPHA:137888 |
Mgat2-Cdg |
|
Respiratory distress, Recurrent upper and lower respiratory tract infections, Hydrops fetalis, Ar... |
ORPHA:79329 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Dehydration |
OMIM:251100 |
Japanese Encephalitis |
|
Respiratory distress, Pulmonary edema, Irregular respiration, Respiratory paralysis, Abnormal pat... |
ORPHA:79139 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Tracheomalacia, Repeated pneumothoraces, Respiratory insufficiency, Pulmona... |
ORPHA:536467 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Growth delay, Dehydration, Stridor, Dilated cardiomyopathy, Pneumonia, Edem... |
ORPHA:79404 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Short stature, Neonatal respiratory distress |
OMIM:260400 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hypertension |
ORPHA:1555 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hypertension |
OMIM:123790 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Short stature |
OMIM:300968 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Cardiac total anomalous pulmonary venous connection, Tricuspid regurgitatio... |
ORPHA:99125 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis |
ORPHA:210122 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Episodic respiratory distress, Dilated cardiomyopathy, Hyperventilation, Cardiac conductio... |
ORPHA:255210 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Gitelman Syndrome |
|
Respiratory distress, Abnormal T-wave, ST segment depression, Raynaud phenomenon, Palpitations, S... |
ORPHA:358 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Xerostomia, Severe short stature |
ORPHA:1051 |
Ear-Patella-Short Stature Syndrome |
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Respiratory distress, Intrauterine growth retardation, Growth delay, Severe short stature, Dyspne... |
ORPHA:2554 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Respiratory distress, Apnea, Growth delay, Hypertrophic cardiomyopathy, Recurrent respiratory inf... |
ORPHA:17 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Short stature, Oligohydramnios, Intrauterine growth retardation, Recurrent ... |
ORPHA:177907 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Growth delay, Severe short stature, Tricuspid regurgitation, Mitral regurgi... |
ORPHA:2556 |
Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Short stature, Pleural effusion, Recurrent respiratory infections, Congest... |
OMIM:182250 |
Listeriosis |
|
Respiratory distress, Myocarditis, Pericarditis, Pneumonia, Arteritis, Respiratory failure, Conge... |
ORPHA:533 |
Campomelic Dysplasia |
|
Respiratory distress, Apnea, Disproportionate short-limb short stature, Neonatal short-limb short... |
OMIM:114290 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... |
OMIM:187300 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Severe intrauterine growth retardation, Birth length less than 3rd percenti... |
ORPHA:3404 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Intrauterine growth retardation, Birth length less than 3rd percentile, Emp... |
OMIM:224690 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Asthma, Short stature, Oligohydramnios, Intrauterine growth retardation |
ORPHA:3206 |
Adnp Syndrome |
|
Respiratory distress, Recurrent upper respiratory tract infections, Aspiration, Short stature |
ORPHA:404448 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Respiratory distress, Interstitial pneumonitis, Recurrent respiratory infections, Pneumonia |
ORPHA:37042 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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High-output congestive heart failure, Cerebral hemorrhage, Right-to-left shunt, Subarachnoid hemo... |
OMIM:610655 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Pulmonic stenosis, Upper eyelid edema, Recurrent aspiration pneumonia, Neon... |
OMIM:616268 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Rhizomelia |
OMIM:166250 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Internal hemorrhage, Respiratory tract infection, Hypertension, Respiratory... |
ORPHA:805 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Postnatal growth retardation, Short stature, Recurrent upper respiratory tr... |
OMIM:180849 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Moderately short stature, Neonatal respiratory distress |
OMIM:119600 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Intrauterine growth retardation, Postnatal growth retardation, Pulmonary hy... |
ORPHA:83617 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Central sleep apnea, Recurrent respiratory infections |
OMIM:615273 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Respiratory acidosis, Abnormal pulmonary interstitial morphology, Neonatal ... |
OMIM:614748 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Weak pulse, Hydrops fetalis, Retinal hemorrhage, Polyhydramnios, Edema, Lef... |
ORPHA:51608 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Polyhydramnios, Short stature |
OMIM:617088 |
Plague |
|
Respiratory distress, Hematemesis, Tachycardia, Arrhythmia, Hypotension, Acute infectious pneumon... |
ORPHA:707 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis |
OMIM:305100 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Pulmonic stenosis, Pulmonary artery stenosis, Oligohydramnios, Intrauterine... |
ORPHA:2255 |
Heterotaxy, Visceral, 1, X-Linked |
|
Mitral stenosis, Respiratory distress, Pulmonic stenosis, Polyhydramnios, Total anomalous pulmona... |
OMIM:306955 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring |
ORPHA:466943 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Pulmonary hypoplasia, Recurrent pneumonia |
ORPHA:798 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Xerostomia, Chronic lung disease, Respiratory failure requiring assisted ve... |
ORPHA:95455 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Recurrent upper and lower respiratory tract infections, Short stature, Dela... |
ORPHA:480880 |
Doors Syndrome |
|
Aspiration pneumonia, Polyhydramnios, Respiratory distress |
ORPHA:79500 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Short stature, Abnormal lung lobation, Infancy onset short-trunk short stat... |
ORPHA:508488 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Short stature, Recurrent pneumonia, Growth delay, Intrauterine growth retar... |
ORPHA:99646 |
Pmm2-Cdg |
|
Angina pectoris, Respiratory distress, Aspiration pneumonia, Intracranial hemorrhage, Lymphedema,... |
ORPHA:79318 |
Alström Syndrome |
|
Respiratory distress, Chronic pulmonary obstruction, Chronic bronchitis, Abnormal coronary artery... |
ORPHA:64 |