Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car... |
ORPHA:50251 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chronic pu... |
ORPHA:2414 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Congestive heart failure... |
ORPHA:132 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Lymphangiectasia, Pulmonary, Congenital |
|
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede... |
OMIM:265300 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac... |
ORPHA:36238 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... |
ORPHA:79126 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
Asbestos Intoxication |
|
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... |
ORPHA:2302 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ... |
ORPHA:60026 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Congenital Heart Block |
|
Crackles, First degree atrioventricular block, Pericardial effusion, Gallop rhythm, Congestive he... |
ORPHA:60041 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Mediastinal lymphadenopathy, Pneumothorax, Splenomegaly, Bronchiectasis, Abnormal pulmon... |
OMIM:612387 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Dyspnea, Pleural effusion |
ORPHA:48686 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... |
OMIM:619773 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... |
OMIM:610476 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... |
ORPHA:199241 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma |
OMIM:144010 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... |
ORPHA:45452 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, ... |
ORPHA:538 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... |
OMIM:616843 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l... |
ORPHA:1041 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Inability to walk, Abnormal respiratory system physiology, Respiratory in... |
ORPHA:266 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Loss of ambulation, Respiratory failure |
OMIM:300717 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... |
ORPHA:70587 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm... |
OMIM:267450 |
Follicular Lymphoma |
|
Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleural effusion |
ORPHA:545 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv... |
ORPHA:137667 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Inability to walk, Respiratory failu... |
ORPHA:90117 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Abnormal lung morphology, Tachypnea, Atelectasis, Whee... |
ORPHA:60032 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Splenomegaly, Cough, Abno... |
ORPHA:77260 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax |
OMIM:620278 |
Tularemia |
|
Respiratory distress, Tachycardia, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Mediast... |
ORPHA:3392 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Pedal edema, Left bundle branch block, Abnormal T-wave, Dilate... |
ORPHA:563 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Respiratory failure, Polyhydramnios |
OMIM:616794 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:253300 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnorm... |
OMIM:620233 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... |
ORPHA:100057 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Pleural effusion, Ascites, Edema |
OMIM:603278 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Hypocomplementemic Urticarial Vasculitis |
|
Ataxia, Pericardial effusion, Dyspnea, Angioedema, Splenomegaly, Lymphadenopathy, Small vessel va... |
ORPHA:36412 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the ... |
ORPHA:69735 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Neonatal respiratory distress, Thymus hyperplasia, Chylothorax, Polyhydramnios |
OMIM:619036 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion |
OMIM:602248 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Dyspnea, Congestive heart failure, Dilated cardi... |
OMIM:612877 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Rhinorrhea, Myocarditis, Cardiorespiratory arrest, Pedal edema, Hypotension, Cough,... |
ORPHA:188 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... |
ORPHA:264675 |
Acute Lung Injury |
|
Respiratory distress, Shock, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, A... |
ORPHA:178320 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Mediastinal lymphadenop... |
OMIM:234810 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... |
OMIM:265120 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left... |
ORPHA:542323 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Dyspnea, Nonproductive cough, Atelectasis, Wheezing, Asthma, Hypersensitivity pneumonit... |
ORPHA:2902 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... |
ORPHA:330001 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... |
ORPHA:70578 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Ataxia |
OMIM:619099 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation |
OMIM:619483 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti... |
OMIM:620236 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Congestive heart failure, Stillbirth, Neonatal death, Pulmonary arterial hy... |
OMIM:619751 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, P... |
OMIM:300580 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Respiratory insufficiency due to muscle weakness, Inability to walk, Hepatosplenom... |
ORPHA:2590 |
Hennekam Syndrome |
|
Recurrent respiratory infections, Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymph... |
ORPHA:2136 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Ataxia |
OMIM:618637 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Pericardial effusion, Co... |
OMIM:261740 |
Aspergillosis |
|
Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Hypersensitivity pneumoniti... |
ORPHA:1163 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, Ascites, Oligoh... |
OMIM:614702 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency |
OMIM:616081 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Arrhythmia |
OMIM:153400 |
Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Hypoventilation, Abnormal EKG, Respiratory insufficiency due to muscle weakness, C... |
OMIM:310200 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... |
ORPHA:2526 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Respiratory failure, Apnea, Bradycardia |
OMIM:616277 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Dyspnea, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Cerebral hemorrhage, Respiratory insufficiency, Bradycardia,... |
OMIM:617397 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Splenomegaly, Lymphadenopathy, Joint swelling, Pleural effusion |
ORPHA:85414 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Hypertrophic cardiomyo... |
OMIM:620326 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pericarditis, Pneumonia, Bronchitis, Abnormal respiratory syst... |
ORPHA:449280 |
Meige Disease |
|
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem... |
ORPHA:90186 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Abnormal... |
ORPHA:70588 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... |
OMIM:620296 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
Hemochromatosis, Type 1 |
|
Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopathy, Arrhythmia, Pleural effus... |
OMIM:235200 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Ataxia, Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Pulmonary Arteriovenous Malformation |
|
Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart murmur, Telangiectasi... |
ORPHA:2038 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Inability to walk, Respiratory failure, Difficu... |
OMIM:611890 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn... |
OMIM:232300 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... |
OMIM:613838 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Broad-base... |
OMIM:610978 |
Tibial Muscular Dystrophy |
|
Cardiomyopathy, Respiratory failure, Steppage gait, Difficulty walking |
ORPHA:609 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Idiopathic Pulmonary Hemosiderosis |
|
Nodular pattern on pulmonary HRCT, Crackles, Diffuse alveolar hemorrhage, Dyspnea, Heart murmur, ... |
ORPHA:99931 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy, Lethargy |
ORPHA:26792 |
Nemaline Myopathy 8 |
|
Respiratory failure, Polyhydramnios |
OMIM:615348 |
Immunodeficiency 91 And Hyperinflammation |
|
Edema, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Hepatosplenomegaly, Lymph... |
OMIM:619644 |
Familial Atrial Fibrillation |
|
Atrial fibrillation, Myocardial infarction, Dyspnea, Syncope, Palpitations |
ORPHA:334 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Apnea, Polyhydramnios |
OMIM:618414 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad... |
ORPHA:91359 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Myocardial... |
ORPHA:60033 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Ataxia, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency, Respi... |
OMIM:614299 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, Mitral regurgitation, Chylothorax, ... |
OMIM:613563 |
Sarcoidosis |
|
Abnormal cardiac ventricular function, Abnormal pleura morphology, Portal hypertension, Heart blo... |
ORPHA:797 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Effort-induced polymorphic ventricular... |
ORPHA:3282 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Hypoxemia, Intracranial hemorrhage, Abnormality of... |
ORPHA:284227 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pericardial effusion, Dyspnea, Abnormal lung morphology, Splenome... |
ORPHA:464329 |
Pontocerebellar Hypoplasia, Type 13 |
|
Recurrent respiratory infections, Edema, Inability to walk, Asthma, Gait ataxia, Pleural effusion |
OMIM:618606 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Respiratory failure |
OMIM:613435 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Transient ischemic attack, Cardiac arrest, First degree atrioventricular bl... |
OMIM:115197 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Ataxia, Epistaxis, Periorbital edema, Congestive heart failure, Sple... |
ORPHA:33226 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... |
ORPHA:1677 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia, Polyhydramnios, Edema, Dilated cardiomyopathy, Respiratory failure |
OMIM:607598 |
Intermediate Nemaline Myopathy |
|
Cardiomyopathy, Respiratory failure, Difficulty walking, Polyhydramnios |
ORPHA:171433 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Ataxia, Apnea, Central hypoventilation, Dysmetria, Respiratory failure |
OMIM:618233 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Ascites |
ORPHA:890 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Lethargy, Hypertrophic cardiomyopathy, Respiratory insufficiency due to mus... |
OMIM:613561 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Edema, Myocardial infarction, Angioedema, Intracranial hemorrhage, Respir... |
ORPHA:449285 |
Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Dyspnea, Congestive heart failure, Pleural empyema, Cough, Constrictive pericarditi... |
ORPHA:67 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Polyhydramnios |
OMIM:225753 |
Congenital Enterovirus Infection |
|
Respiratory distress, Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops f... |
ORPHA:292 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Bradykinesia, Falls |
ORPHA:240085 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Respiratory tract infection, Dyspnea, P... |
ORPHA:567546 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia, Respiratory failure, Neonatal death, Polyhydramnios |
OMIM:619334 |
Malaria |
|
Respiratory distress, Gait imbalance |
ORPHA:673 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Inability to walk |
OMIM:617977 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Inability to walk, Congestive heart failure, Respiratory failure, Hypertrophic cardiomyop... |
ORPHA:70472 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Bronchiolitis |
OMIM:615993 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Splenomegaly, Dehydration, Choreoathetosis, Cardiomyopathy, Lethargy |
ORPHA:79312 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... |
ORPHA:99105 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory failure, E... |
OMIM:312170 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Respiratory failure, Lethargy |
OMIM:619386 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Inability to walk, Tip-toe gait, Progressive cerebellar ataxia |
ORPHA:2596 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Waddling gait, Dyspnea, Cardiomyopathy, Difficulty walking, Cough |
ORPHA:86812 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Respi... |
OMIM:609981 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... |
OMIM:616414 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Loss of ambulation, Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Pedal edema, Heart m... |
ORPHA:422 |
Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera... |
ORPHA:64739 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... |
OMIM:613243 |
Gorham-Stout Disease |
|
Lymphangioma, Pleural effusion, Edema, Rhinorrhea |
ORPHA:73 |
Noonan Syndrome 8 |
|
Polyhydramnios, Pleural effusion, Mitral regurgitation, Pulmonic stenosis, Hypertrophic cardiomyo... |
OMIM:615355 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough |
ORPHA:99825 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy |
OMIM:237310 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Respiratory failu... |
ORPHA:679 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... |
OMIM:613490 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... |
ORPHA:330021 |
Q Fever |
|
Respiratory distress, Pericarditis, Pneumonia, Pericardial effusion, Myocarditis, Splenomegaly, V... |
ORPHA:781 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Dilated cardiomyopathy, Respiratory fa... |
ORPHA:352447 |
Pediatric Systemic Lupus Erythematosus |
|
Edema, Pericardial effusion, Dyspnea, Raynaud phenomenon, Lymphadenopathy, Pleural effusion, Ascites |
ORPHA:93552 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... |
ORPHA:133 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... |
OMIM:246700 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Spinocerebellar Ataxia Type 1 |
|
Dysmetria, Bradykinesia, Progressive cerebellar ataxia, Respiratory failure, Dysdiadochokinesis, ... |
ORPHA:98755 |
Nephronophthisis 2 |
|
Respiratory insufficiency, Hypertension, Respiratory failure, Pulmonary hypoplasia, Pulmonary ins... |
OMIM:602088 |
Fryns Syndrome |
|
Polyhydramnios, Stillbirth, Chylothorax, Polysplenia, Pulmonary hypoplasia |
OMIM:229850 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Dyspnea, Left posterior fascicular block, Right bundle branch block, Syncop... |
OMIM:113900 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Splenomegaly, Recurrent pneumonia, Recurrent tonsillitis, Hepatosplenomegaly, Lymp... |
OMIM:618935 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... |
ORPHA:1329 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Respiratory insufficiency, Res... |
OMIM:609015 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia, Polyhydramnios |
OMIM:616867 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor |
ORPHA:97285 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Polyhydramnios, Edema |
ORPHA:1423 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Pleural effus... |
OMIM:616897 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Neoplasm of th... |
ORPHA:142 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Hypertension, Pulmonary hypoplasia, Oligohydramnios |
OMIM:616733 |
Ovarian Fibroma |
|
Pleural effusion, Ascites |
ORPHA:314473 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Right ventricular failure, Respiratory tract infection, Nonproductive cough, Dyspnea,... |
ORPHA:60025 |
Leigh Syndrome |
|
Respiratory failure, Ataxia, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Crackles, Abnormal pleura morphology, Portal hypertension, Dyspnea, Hepatosplenomegaly, Restricti... |
ORPHA:210136 |
Ring Chromosome 22 Syndrome |
|
Gait ataxia, Pleural effusion, Edema, Lymphedema |
ORPHA:1446 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Difficulty walking, Nocturnal hypoventilation |
OMIM:603689 |
Solar Urticaria |
|
Edema, Periorbital edema, Dyspnea, Wheezing, Angioedema, Syncope |
ORPHA:97230 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Respiratory failure, Ataxia, Gait ataxia |
ORPHA:363400 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
Poems Syndrome |
|
Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Lymphadenopathy, R... |
ORPHA:2905 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Lymphedema, Splenomegaly, Lymphadenopathy, Intracranial hemorrh... |
ORPHA:3226 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Dyspnea, Atrial standstill, Congestive... |
ORPHA:1344 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgitation... |
OMIM:212140 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Shock, Tachycardia, Pneumonia, Epistaxis, Hematemesis, Dyspnea, Capillary l... |
ORPHA:340 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arterial hypertension, ... |
OMIM:605711 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory failure |
ORPHA:2759 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Splenomegaly, Pleural effusion, Lymphadenopathy |
OMIM:613011 |
Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Ataxia, Congenital laryngeal stridor |
ORPHA:2254 |
Boutonneuse Fever |
|
Respiratory failure, Vasculitis, Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Congestive ... |
ORPHA:367 |
Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Suprav... |
ORPHA:75249 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestinal lymphangiectasia, P... |
ORPHA:90362 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Generalized lymphadenopathy, Transient ischemic attack, Supraventricular ar... |
ORPHA:3260 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Broad-based gait, Apnea, Ataxia, Difficulty walking |
ORPHA:79097 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Tachypnea, Respiratory failure, Gait disturbance, Loss of ambulation, Lethargy |
OMIM:615838 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Right bundle branch block, Reduced left ventricula... |
OMIM:115195 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia |
OMIM:612776 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Loss of ambulation, Respiratory failure, Ataxia |
OMIM:620166 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... |
OMIM:608758 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Congestive heart failure, Respiratory failure, Arrhythmia, Hypertrophic cardiomyopathy, Oligohydr... |
ORPHA:1194 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Polyhydramnios, Cardiomyopathy, Respiratory failure, Stillbirth, Neonatal death, Lethargy |
OMIM:614922 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... |
ORPHA:98913 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Dyspnea, Congestive heart failure, Ventricular t... |
OMIM:612098 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Respiratory insufficiency, Polyhydramnios |
OMIM:615330 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal death, Neonatal respiratory distress, Respiratory failure, Respiratory insufficiency |
OMIM:245400 |
Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Pericardial effusion, Dyspnea, Mediastinal lymphadenopathy, Splenome... |
OMIM:181000 |
High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure, Tip-toe gait, Difficulty walking |
OMIM:606612 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Respiratory insufficiency, Cardiomyopathy, Res... |
ORPHA:746 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pn... |
ORPHA:31204 |
Erdheim-Chester Disease |
|
Ataxia, Dyspnea, Congestive heart failure, Abnormal pulmonary interstitial morphology, Joint swel... |
ORPHA:35687 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Congestive heart failure,... |
OMIM:615512 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Ataxia, Pneumonia, Bronchitis, Neonatal... |
ORPHA:420741 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Bradykinesia |
ORPHA:240103 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Difficulty walking |
OMIM:613954 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia |
ORPHA:79237 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia |
ORPHA:238459 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
OMIM:211530 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of ha... |
ORPHA:100050 |
Alg1-Cdg |
|
Cardiomyopathy, Respiratory failure |
ORPHA:79327 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension |
ORPHA:247257 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Gait ataxia |
OMIM:612075 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Dysmetria, Gait ataxia, Respiratory failure, Steppage gait |
OMIM:616505 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Cardiac arrest, Lethargy, Hypertrophic cardiomyopathy, Inspiratory stridor,... |
OMIM:604377 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Ovarian Fibrothecoma |
|
Pleural effusion, Ascites |
ORPHA:314478 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Ataxia, Dilated cardiomyopathy, Arrhythmia, Lethargy, Hypertrophic cardiomy... |
ORPHA:254913 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Prolonged QT interval, Tachycardia, Pneumonia, Episodic tachypnea, Pericard... |
ORPHA:26793 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Splenomegaly, Ataxia, Telangiectasia |
OMIM:608799 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... |
ORPHA:99103 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Subdural hemorrh... |
OMIM:618291 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Respiratory failu... |
OMIM:220110 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardi... |
OMIM:235510 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Mediastinal lymphade... |
ORPHA:1546 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Lethargy, Choreoathetosis |
ORPHA:289916 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, P... |
OMIM:160900 |
Noonan Syndrome 1 |
|
Hypertrophic cardiomyopathy, Chylothorax, Pulmonic stenosis, Lymphedema |
OMIM:163950 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Oligohydramnios |
ORPHA:1143 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, P... |
ORPHA:117 |
Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, Ataxia, Fetal ascites, Polyhydramnios, Splenomegaly, Respiratory i... |
OMIM:607625 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy, Cerebral ischemia, Ataxia |
ORPHA:927 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:615042 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Pericardial effusion... |
ORPHA:555874 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency, Polyhydramnios |
OMIM:618186 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dyspnea, Congestive heart failure, Inability to walk, Cardiorespiratory arrest, Restrictive venti... |
ORPHA:26791 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Ataxia |
ORPHA:1861 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection |
OMIM:620011 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Waddling gait, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypopla... |
OMIM:620369 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress |
OMIM:616974 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... |
OMIM:614370 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Dy... |
OMIM:609040 |
Hellp Syndrome |
|
Generalized edema, Cerebral hemorrhage, Hypotension, Pleural effusion, Internal hemorrhage, Pulmo... |
ORPHA:244242 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Ataxia, Inability to walk, Dystonic gait, Respiratory failure, Difficulty walking |
ORPHA:280210 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Lethargy, Tachypnea, Ataxia |
ORPHA:79242 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Abnormal pulmonary inters... |
OMIM:617180 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure |
OMIM:618240 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Inability to walk, Respiratory insufficiency, Pulmonary arterial hy... |
ORPHA:258 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
American Trypanosomiasis |
|
Edema, Periorbital edema, Dyspnea, Congestive heart failure, Myocarditis, Splenomegaly, Lymphaden... |
ORPHA:3386 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Neonatal deat... |
OMIM:616482 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Palpebral edema, Ataxia, Myocarditis, Cervical lymphadenopathy, Vasc... |
ORPHA:50918 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Palpitations, Hypertrophi... |
OMIM:613873 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Lymphadenitis, Recurrent pneumonia, Splenomegaly, Lymphadenopathy, Cough, Pleural ef... |
OMIM:306400 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
OMIM:617822 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Edema, Unsteady gait, Gait ataxia, Anasarca, Pleural effusion |
OMIM:254900 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Recurrent upper respiratory tract infections, Hematochezia,... |
OMIM:618183 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology |
ORPHA:803 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory tract infection, Atelecta... |
ORPHA:365 |
Aortic Arch Interruption |
|
Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substa... |
ORPHA:2299 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Lethargy |
OMIM:251000 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Pneumonia, Chronic noninfectious lymphadenopathy, Right ventricular fail... |
ORPHA:97287 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Tip-toe gait, Choreoathetosis |
ORPHA:37612 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ataxia, As... |
ORPHA:209905 |
Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Ataxia, Epistaxis, Edema, Pericardial effusion, Inability to wa... |
ORPHA:167 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges... |
ORPHA:3092 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Periorbital edema, Atelectasis, ... |
ORPHA:73263 |
Tetanus |
|
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia |
ORPHA:3299 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia, Difficulty walking |
OMIM:620249 |
Fusariosis |
|
Sinusitis, Lung abscess, Pneumonia, Productive cough, Hypersensitivity pneumonitis, Abnormality o... |
ORPHA:228119 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Inability to walk, Hypertension, Respiratory ... |
ORPHA:2912 |
Leptospirosis |
|
Respiratory distress, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Lymp... |
ORPHA:509 |
Idiopathic Pulmonary Arterial Hypertension |
|
Edema of the dorsum of feet, Tricuspid regurgitation, Increased pulmonary vascular resistance, Dy... |
ORPHA:275766 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Pneumonia, Abnormality of the spleen, Mediastinal lymphadenop... |
ORPHA:228123 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Supraventricul... |
ORPHA:97214 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
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 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Apnea, Dilated cardiomyopathy, Respiratory insufficiency, Respirat... |
OMIM:608836 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
3-Methylglutaconic Aciduria Type 7 |
|
Choreoathetosis, Cardiomyopathy, Respiratory failure, Pneumothorax |
ORPHA:445038 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Dyspnea... |
ORPHA:439 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Asplenia, Pulmonary art... |
OMIM:265380 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QT interval, Tachycardia, Pulmonary edema, Prolonged QRS complex,... |
ORPHA:90068 |
Noonan Syndrome 10 |
|
Mitral stenosis, Increased nuchal translucency, Hypertrophic cardiomyopathy, Mitral regurgitation... |
OMIM:616564 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Oligohydramnios |
ORPHA:261304 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia, Lethargy |
OMIM:620306 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Dyspnea,... |
ORPHA:3342 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Polyhydramnios, Edema, Abnormal respiratory system p... |
ORPHA:98905 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Gastrointestinal hemorrhage, Persistent fetal circulation, Polyhydramnios, ... |
ORPHA:363705 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... |
ORPHA:137914 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... |
OMIM:610910 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Hypoplastic spleen |
ORPHA:89844 |
Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Respiratory failure, Hypovolemic shock, Cardiomyopathy, Oligoh... |
ORPHA:158687 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Dysdiadochokinesis, Gait disturbance |
ORPHA:98805 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Apnea, Dyspnea, Lethargy, Hyperventilation |
OMIM:229700 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Waddling gait, Respiratory ... |
ORPHA:98915 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Pedal edema, Cardiorespiratory arrest, Cough, Pulmonary ... |
ORPHA:228116 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia, Polyhydramnios, Edema of the dorsum of hands |
ORPHA:171430 |
Colchicine Poisoning |
|
Respiratory distress, Congestive heart failure, Myocarditis, Hypovolemia, Cardiorespiratory arres... |
ORPHA:31824 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Akinesia, Splenomegaly, H... |
OMIM:608013 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Heart block, Congest... |
ORPHA:185 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... |
ORPHA:348 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Ataxia, Cerebral edema |
OMIM:617186 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Inability to walk, Gait ataxia, Hypertrop... |
OMIM:619383 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Neonatal death, Polyhydramnios |
OMIM:300219 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Geleophysic Dysplasia 3 |
|
Pneumonia, Polyhydramnios, Dyspnea, Respiratory failure, Mitral regurgitation |
OMIM:617809 |
Familial Mediterranean Fever |
|
Splenomegaly, Pleural effusion, Pleuritis, Pericarditis |
OMIM:249100 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... |
ORPHA:141083 |
Immunodeficiency 87 And Autoimmunity |
|
Cervical lymphadenopathy, Dilated cardiomyopathy, Hypertension, Anasarca, Third degree atrioventr... |
OMIM:619573 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Congestive heart failure,... |
ORPHA:31826 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Ataxia, Hypercapnia, Reduced forced vital c... |
OMIM:164310 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure |
OMIM:610678 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Ataxia, Polyhydramnios, Congestive heart failure, Recurrent pneumonia, Dehy... |
OMIM:616271 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Shock, Crackles, Facial edema, Nonproductive cough, Periorbital edema, Atel... |
ORPHA:319213 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Bradycardia |
ORPHA:226313 |
Congenital Myasthenic Syndrome |
|
Waddling gait, Recurrent respiratory infections, Sudden episodic apnea, Ataxia, Polyhydramnios, I... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Recurrent respiratory infections, Sudden episodic apnea, Ataxia, Polyhydramnios, I... |
ORPHA:98914 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Edema, Respiratory tract infection, Dyspnea, Myocarditis, Hypertension, Pleural empyem... |
ORPHA:544482 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands |
ORPHA:544503 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Co... |
OMIM:617303 |
Brucellosis |
|
Pericarditis, Lung abscess, Transient ischemic attack, Pneumonia, Bronchitis, Hypersplenism, Myoc... |
ORPHA:1304 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress |
OMIM:615597 |
Primary Sclerosing Cholangitis |
|
Portal hypertension, Spider hemangioma, Congestive heart failure, Splenomegaly, Hepatosplenomegal... |
ORPHA:171 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Respiratory failure, Hydrops fetalis |
ORPHA:88618 |
Moebius Syndrome |
|
Respiratory distress, Dysdiadochokinesis, Gait disturbance |
OMIM:157900 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Abnormal heart rate variability |
ORPHA:206436 |
Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... |
ORPHA:333 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund... |
ORPHA:75565 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Heart murmur, P... |
ORPHA:3309 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Apnea, Ataxia, Splenomegaly, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, R... |
OMIM:252010 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Polyhydramnios |
OMIM:202650 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Ataxia, Dyspnea, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Respiratory insu... |
OMIM:610505 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Joubert Syndrome 21 |
|
Apnea, Ataxia, Dyspnea, Splenomegaly, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis |
OMIM:615636 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Odontochondrodysplasia |
|
Respiratory distress |
ORPHA:166272 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Polyhydramnios, Edema, Hepatosplen... |
ORPHA:79330 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Dyspnea, Congestive heart failure, Heart murmur, Cough |
ORPHA:1054 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Shock, Tachycardia, Sinusitis, Pneumonia, Edema, Respiratory tract infectio... |
ORPHA:36234 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Hypopnea, Respiratory failure, Bradycardia, Neonatal death, Respiratory arrest |
OMIM:617248 |
Multiple Myeloma |
|
Splenomegaly, Pleural effusion, Lymphadenopathy |
ORPHA:29073 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dyspnea, Cardiomyopathy, Bradycardia, Pa... |
OMIM:615745 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Polyhydramnios, Edema, Recurrent upper respiratory tract infections, Recurr... |
OMIM:607143 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Sepsis In Premature Infants |
|
Tachycardia, Abnormal mucociliary clearance, Edema, Dyspnea, Nasal flaring, Splenomegaly, Abnorma... |
ORPHA:90051 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Polyhydramnios, Congestive heart failure, Lethargy, Ascites |
OMIM:617156 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Ataxia, Polyhydramnios, Recurrent pneumonia, ... |
ORPHA:496641 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... |
OMIM:615343 |
Leigh Syndrome |
|
Ataxia, Congestive heart failure, Choreoathetosis, Athetosis, Respiratory failure, Hypertrophic c... |
ORPHA:506 |
Diaphanospondylodysostosis |
|
Respiratory distress, Increased nuchal translucency, Respiratory insufficiency, Pulmonary hypopla... |
OMIM:608022 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Generalized edema |
OMIM:271225 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Increased nuchal translucency, Pleural effusion |
ORPHA:453499 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... |
ORPHA:505248 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Polyhydramnios |
OMIM:619847 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Ataxia, Cardiac conduction abnormality, Abnormal T-wave, Dehydration... |
ORPHA:2131 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Dysmetri... |
OMIM:606721 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:184260 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Listeriosis |
|
Respiratory distress, Pericarditis, Ataxia, Pneumonia, Congestive heart failure, Myocarditis, Res... |
ORPHA:533 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea |
OMIM:617301 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Joint swelling, Pulmonary fibrosis, Splenomegaly |
OMIM:612852 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Lethargy, Dehydration |
OMIM:251110 |
Chronic Graft Versus Host Disease |
|
Dyspnea, Wheezing, Pneumothorax, Xerostomia, Bronchiectasis, Bronchiolitis obliterans, Cough, Ple... |
ORPHA:99921 |
Osteopetrosis, Autosomal Recessive 5 |
|
Splenomegaly, Hepatosplenomegaly, Respiratory failure, Stillbirth, Ascites |
OMIM:259720 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Pulmonary hypoplasia, Polyhydramnios |
OMIM:151210 |
Restrictive Dermopathy 2 |
|
Respiratory distress |
OMIM:619793 |
Kniest Dysplasia |
|
Respiratory distress, Gait disturbance, Tracheomalacia |
OMIM:156550 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hypoventilation, Spontaneous pneumothorax, Portal hypertension, Hype... |
ORPHA:731 |
Pancreatitis, Hereditary |
|
Pleural effusion |
OMIM:167800 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Fetal ascites, Polyhydramnios, Neonatal asphyxia, Abnormal lung morphology,... |
ORPHA:141127 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections, Polyhydramnios |
ORPHA:329178 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Palpebral edema, Polyhydramnios |
ORPHA:50810 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure |
OMIM:614862 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Cardiomyopathy, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Transient ischemic attack, Myocardial infarction |
OMIM:274150 |
Bloom Syndrome |
|
Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Recurrent tons... |
ORPHA:125 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Respiratory t... |
ORPHA:79138 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Ataxia, Lethargy, Hyperventilation |
ORPHA:79241 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Broad-based gait, Ataxia |
ORPHA:438216 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Persistent fetal circulation |
OMIM:612863 |
Abetalipoproteinemia |
|
Broad-based gait, Ataxia, Congestive heart failure, Dysmetria, Gait ataxia, Respiratory failure, ... |
ORPHA:14 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Ataxia, Hypopnea, Recurrent lower res... |
OMIM:618426 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Hepatospleno... |
OMIM:618278 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pulmonary hypoplasia, Neonatal death |
OMIM:231680 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure |
OMIM:620327 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Edema, Dyspnea, Pneumothorax, Dilated cardiomyopathy, Dehydratio... |
ORPHA:79404 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Gastrointestinal hemorrhage, Abnormal ple... |
ORPHA:537 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Polyhydramnios |
ORPHA:990 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Ataxia, Cardiac conduction abnormality, Dyspnea, Episodic respiratory distress, Dilated ca... |
ORPHA:255210 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Portal hypertension, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insuffici... |
OMIM:613658 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Pneumonia, Abnormal retinal vascular morphology, Macular edema, Retinal... |
ORPHA:247691 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Lethargy, Dehydration |
OMIM:251100 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis, Asplenia |
ORPHA:210122 |
Niemann-Pick Disease Type C |
|
Ataxia, Fetal ascites, Splenomegaly, Abnormal lung morphology, Hydrops fetalis, Respiratory insuf... |
ORPHA:646 |
Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Unsteady gait |
OMIM:618733 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Ataxia, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hy... |
ORPHA:79282 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Atrial fibrillation, Prolonged QRS complex, L... |
ORPHA:273 |
Mgat2-Cdg |
|
Respiratory distress, Hydrops fetalis, Reflex asystolic syncope, Arrhythmia, Recurrent upper and ... |
ORPHA:79329 |
Japanese Encephalitis |
|
Respiratory distress, Pulmonary edema, Choreoathetosis, Respiratory paralysis, Abnormal pattern o... |
ORPHA:79139 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect, Waddling gait |
OMIM:183900 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Polyhydramnios, Respiratory insufficiency due to m... |
ORPHA:2020 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hypertension |
ORPHA:1555 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Costello Syndrome |
|
Polyhydramnios, Pneumothorax, Respiratory insufficiency, Hypertrophic cardiomyopathy, Respiratory... |
OMIM:218040 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure, Polyhydramnios |
ORPHA:254528 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Bronchitis, Polyhydramnios, Episodic resp... |
ORPHA:1199 |
Plague |
|
Respiratory distress, Tachycardia, Edema, Hematemesis, Lymphadenitis, Splenomegaly, Unsteady gait... |
ORPHA:707 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Hypertension, Respiratory failure, Internal he... |
ORPHA:805 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:99125 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Apnea, Unsteady gait, Choreoathetosis, Hy... |
ORPHA:17 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia |
ORPHA:79259 |
Achondroplasia |
|
Respiratory distress, Pulmonary hypoplasia, Upper airway obstruction, Polyhydramnios |
OMIM:100800 |
Myhre Syndrome |
|
Ataxia, Pericardial effusion, Respiratory insufficiency, Hypertension, Respiratory failure, Aorti... |
OMIM:139210 |
Fraser Syndrome 2 |
|
Respiratory failure, Hypoplasia of the thymus, Oligohydramnios |
OMIM:617666 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... |
ORPHA:536467 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopathy, Respiratory failu... |
ORPHA:2556 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Polyhydramnios, Splenic cyst |
OMIM:618188 |
Gitelman Syndrome |
|
Respiratory distress, Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Low-to-nor... |
ORPHA:358 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Pneumonia, Splenomegaly, Lymphadenopathy,... |
ORPHA:37042 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hypertension |
OMIM:123790 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Broad-based gait, Ataxia, Loss of ambulation, Ascites |
OMIM:256810 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease |
OMIM:613848 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Abnormal lymphatic vessel morphology |
ORPHA:2330 |
Singleton-Merten Syndrome 1 |
|
Waddling gait, Recurrent respiratory infections, Congestive heart failure, Aortic valve stenosis,... |
OMIM:182250 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:260400 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:300968 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Respiratory failure, Hydrops fetalis, Polyhydramnios |
OMIM:300868 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... |
OMIM:610655 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Respiratory failure, Recurrent pneumonia, Recurrent respirato... |
ORPHA:647 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Polyhydramnios, Asplenia, Total anomalous pulmonar... |
OMIM:306955 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:600376 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Oligohydramnios |
ORPHA:177907 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Xerostomia |
ORPHA:1051 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Polyhydramnios, Pulmonary artery stenosis, Hepatosplenomegaly, Restrictive ventilatory defect, Re... |
ORPHA:96334 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Upper eyel... |
OMIM:616268 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure |
OMIM:618252 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Athetosis, Dysmetria |
OMIM:615273 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Polyhydramnios, Recurrent upper respi... |
OMIM:114290 |
Adnp Syndrome |
|
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections |
ORPHA:404448 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Pneumothorax, Respiratory failure, Pulmonary hypoplasia, Oligohydramnios |
ORPHA:3404 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Transient ischemic attack, Polyhydramnios, Edema, Pericardial effusion, Hyd... |
ORPHA:51608 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Emphysema |
OMIM:224690 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... |
OMIM:614748 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Accessory spleen, Polyhydramnios, Respiratory tract infection, Unsteady gai... |
OMIM:180849 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis |
OMIM:305100 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Respiratory failure |
ORPHA:2636 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea, Oligohydramnios |
ORPHA:3206 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Transient ischemic attack, Respiratory failure, Ischemic stroke, Emphysema |
ORPHA:500150 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Splenomegaly, Polyhydramnios |
OMIM:617088 |
Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring |
ORPHA:466943 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Pulmonary artery stenosis, Pulmonic stenosis, Oligohydramnios |
ORPHA:2255 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Xerostomia, ... |
ORPHA:95455 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:304120 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia |
ORPHA:798 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Abnormal lung lobation, Gastrointestinal hemorrhage, Oligohydramnios |
ORPHA:508488 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Pulmonary hypoplasia |
ORPHA:83617 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Cardiomyopathy, Recurrent upper and lower respiratory tract infections, Dif... |
ORPHA:480880 |
Doors Syndrome |
|
Respiratory distress, Polyhydramnios, Aspiration pneumonia |
ORPHA:79500 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Lymphangioma, Recurrent pneumonia, Waddling gait |
ORPHA:99646 |
Pmm2-Cdg |
|
Respiratory distress, Pericarditis, Angina pectoris, Ataxia, Lymphedema, Pericardial effusion, In... |
ORPHA:79318 |
Alström Syndrome |
|
Respiratory distress, Ataxia, Portal hypertension, Congestive heart failure, Splenomegaly, Recurr... |
ORPHA:64 |