Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Death in infancy, Pneumonia |
OMIM:254120 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... |
ORPHA:79506 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Respiratory distress, Congestive heart failure, Dilat... |
OMIM:613642 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Death in adolescence, Intrauterine growth retardation, Neonatal ... |
OMIM:619751 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Dyspnea, Right ventricular cardiomyopathy, Syncope, Palpitations, Sudden cardiac death, Ventricul... |
OMIM:610476 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... |
ORPHA:45452 |
Bronchopulmonary Dysplasia |
|
Dyspnea, Abnormal respiratory system physiology, Right ventricular failure, Cough, Chronic lung d... |
ORPHA:70589 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Upper airway obstruction, Dyspnea, Aspiration pneumonia |
ORPHA:141152 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... |
OMIM:616000 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Rickets, Increased bone mineral density, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... |
OMIM:144250 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Cardiomyopathy, Dilated, 1Bb |
|
Dyspnea, Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestiv... |
OMIM:612877 |
Pleural Mesothelioma |
|
Dyspnea, Abnormal respiratory system physiology, Cough, Respiratory distress, Abnormal cardiovasc... |
ORPHA:50251 |
Recurrent Respiratory Papillomatosis |
|
Tracheomalacia, Dyspnea, Tachypnea, Respiratory insufficiency, Syncope, Upper airway obstruction,... |
ORPHA:60032 |
Laryngotracheal Angioma |
|
Intercostal retractions, Cough, Apnea, Respiratory distress, Stridor, Wheezing |
ORPHA:137935 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Asymmetric septal hypertrophy, Dyspnea, Mitral regurgitation, Left ventricular outflow tract obst... |
OMIM:620236 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachypnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Acute infectio... |
ORPHA:264675 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure |
ORPHA:1832 |
Gnathodiaphyseal Dysplasia |
|
Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis, Osteopenia |
OMIM:166260 |
Gaucher Disease Type 2 |
|
Cardiac arrest, Respiratory distress, Cough, Abnormal pattern of respiration |
ORPHA:77260 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Dyspnea, Reduced left ventricular ejectio... |
OMIM:613838 |
Severe Acute Respiratory Syndrome |
|
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea... |
ORPHA:140896 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Familial Progressive Cardiac Conduction Defect |
|
Dyspnea, Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure |
ORPHA:871 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Meconium Aspiration Syndrome |
|
Abnormal heart rate variability, Pulmonary arterial hypertension, Aspiration pneumonia, Hypoxemia... |
ORPHA:70588 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy |
OMIM:300580 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Tachypnea |
OMIM:267450 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Chronic pulmonary obstruction, Pulmonic stenosis, Cough, Tricusp... |
ORPHA:2414 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Respiratory distress |
ORPHA:238329 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:615863 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy, Intrauterine growth retardation |
ORPHA:26792 |
Cryptogenic Organizing Pneumonia |
|
Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Crackles, Pneumo... |
ORPHA:1302 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Atrial Septal Defect, Sinus Venosus Type |
|
Paradoxical splitting of the second heart sound, Tricuspid regurgitation, Supraventricular arrhyt... |
ORPHA:99105 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Dyspnea, Reduced left ven... |
OMIM:613243 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Cough, Decreased forced expiratory flow 25-75%, ... |
ORPHA:1303 |
Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Hyperventilation, Cough, Hypoxemia, Respiratory distress, Reduced forced... |
ORPHA:91359 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Congenital Myopathy 10A, Severe Variant |
|
Restrictive ventilatory defect, Respiratory distress, Respiratory insufficiency, Respiratory failure |
OMIM:614399 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Cardiorespiratory arrest, Reduced left ventricular ejection fraction, Tachypnea |
OMIM:620203 |
Acute Lung Injury |
|
Dyspnea, Tachypnea, Diffuse alveolar hemorrhage, Hypoxemia, Respiratory distress, Shock, Respirat... |
ORPHA:178320 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Staphylococcal Necrotizing Pneumonia |
|
Dyspnea, Tachypnea, Pleural effusion, Hypotension, Cough, Hypoxemia, Nonproductive cough, Respira... |
ORPHA:36238 |
Cardiomyopathy, Dilated, 2G |
|
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... |
OMIM:619897 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Pneumothorax... |
ORPHA:411703 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cough, Respiratory distress, Respiratory failure, Tachypnea |
OMIM:263000 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Hypotension, Hypoxemia, Pneumonia, Respiratory failure, Tachypnea, Bradycardia, T... |
ORPHA:70587 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Hypercholesterolemia, Familial, 3 |
|
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:603776 |
Acquired Methemoglobinemia |
|
Dyspnea, Syncope, Palpitations, Hypoxemia, Arrhythmia, Respiratory distress, Tachycardia |
ORPHA:464453 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... |
OMIM:619868 |
Familial Nasal Acilia |
|
Dyspnea, Chronic sinusitis, Chronic rhinitis, Respiratory distress, Bronchiectasis |
ORPHA:922 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Neonatal respiratory distress, Dyspnea, Cough, Paraseptal emphysema, Hypoxemia, Death in infancy,... |
OMIM:610921 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Dyspnea, Reduced left ventricular ejection fraction, Angina pectoris, ... |
OMIM:115195 |
Diaphanospondylodysostosis |
|
Respiratory distress, Myelomeningocele |
ORPHA:66637 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Ventilator dependence with inability to wean, Respiratory insufficiency, Respiratory insufficienc... |
ORPHA:254875 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Familial Dilated Cardiomyopathy |
|
Dyspnea, Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ej... |
ORPHA:217607 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Dyspnea, Syncope, Palpitations, Elevated jugular venous pressure... |
ORPHA:422 |
Peripartum Cardiomyopathy |
|
Myocarditis, Reduced left ventricular ejection fraction, Respiratory failure, Paroxysmal dyspnea,... |
ORPHA:563 |
Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Dyspnea, Syncope, Sudden cardiac death, Prolonged PR interval, Le... |
OMIM:113900 |
Avian Influenza |
|
Miscarriage, Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Respira... |
ORPHA:454836 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Dyspnea, Reduced left ventricular ejection fraction, Syncope, First degree atriov... |
OMIM:115197 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Abnormal EKG, Third heart sound, Systolic heart murmur, Wheezing, Tachyp... |
ORPHA:1329 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Respiratory insufficiency, Cough, Hypox... |
OMIM:610913 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Hypotension, Internal hemorrhage |
ORPHA:247257 |
Nipah Virus Disease |
|
Cough, Respiratory distress, Hypotension |
ORPHA:99825 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood, Intrauterine growth retardation |
OMIM:615597 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Tachypnea, Respiratory insufficiency, Death in infancy, Respiratory distress, Respiratory failure... |
OMIM:614299 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Hypertrophic cardiomyopathy |
OMIM:613561 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Dyspnea, Syncope, Palpit... |
OMIM:612098 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Neonatal respiratory distress, Death in infancy |
OMIM:615042 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Hypertension, Intrauterine growth retardation |
OMIM:616733 |
Fixed Subaortic Stenosis |
|
Dyspnea, Systolic heart murmur, Mitral regurgitation, Pulmonic stenosis, Paroxysmal atrial fibril... |
ORPHA:3092 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Patent ductus arteriosus, Neonatal death |
OMIM:601612 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperostosis frontalis interna, Hyperuricemia, Osteoporosis, Osteoarthritis, Hypercholesterolemia |
ORPHA:77296 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Slc35A1-Cdg |
|
Respiratory distress, Pulmonary hemorrhage, Hypoxemia, Pneumonia |
ORPHA:238459 |
Auriculocondylar Syndrome 2 |
|
Respiratory distress, Snoring, Apnea |
OMIM:614669 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Aortic Arch Interruption |
|
Right bundle branch block, Systolic heart murmur, Blood pressure substantially higher in arms tha... |
ORPHA:2299 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Dyspnea, Palpitations, Supraventricular t... |
OMIM:608758 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Cough, Cardiomyopathy, Dyspnea, Respiratory distress |
ORPHA:86812 |
Larsen-Like Syndrome, Lethal Type |
|
Pulmonary insufficiency, Tracheomalacia, Respiratory insufficiency, Neonatal death |
OMIM:245650 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction, Abnormal capillary physiology |
ORPHA:100057 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Patent ductus arteriosus |
ORPHA:166272 |
Thyroid Lymphoma |
|
Respiratory distress, Upper airway obstruction, Dyspnea, Stridor |
ORPHA:97285 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Hypercholesterolemia, Increased C-peptide level |
OMIM:620211 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Atrial Septal Defect, Ostium Secundum Type |
|
Tricuspid regurgitation, Transient ischemic attack, Supraventricular arrhythmia, Bundle branch bl... |
ORPHA:99103 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cardiac arrest, Death in infancy, Irregular respiration, Respiratory distress, Hypertrophic cardi... |
OMIM:604377 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... |
OMIM:616828 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Dyspnea, Palpitations, Angina pectoris, Hypertrophic cardiomyopathy, Atr... |
OMIM:613873 |
Anaplastic Thyroid Carcinoma |
|
Dyspnea, Cough, Upper airway obstruction, Respiratory distress, Stridor |
ORPHA:142 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Mercury Poisoning |
|
Dyspnea, Hypotension, Hypertension, Respiratory distress, Respiratory failure, Interstitial pneum... |
ORPHA:330021 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation |
ORPHA:596 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Neonatal respiratory distress, Oxygen desaturation on exertion, Restrictive ventilatory defect, C... |
OMIM:610978 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Death in infancy, Apnea,... |
OMIM:265120 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... |
OMIM:207750 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Atrial fibrillation, Exertional dyspnea, Pulmonary arterial hypertension... |
ORPHA:99106 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:261304 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Telangiectasia, Respiratory distress, Patent ductus arteriosus |
OMIM:608799 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Paradoxical respiration, Respiratory distress |
OMIM:620011 |
Stt3B-Cdg |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:370924 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Carnitine Deficiency, Systemic Primary |
|
Mitral regurgitation, Cardiomyopathy, Respiratory distress, Congestive heart failure, Hypertrophi... |
OMIM:212140 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Death in childhood, Dyspnea, Respiratory insufficiency, Respiratory distress, Nocturnal hypoventi... |
OMIM:211530 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Joint hypermobility, Hypercholesterolemia |
ORPHA:254531 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Dyspnea, Right vent... |
OMIM:609040 |
Tularemia |
|
Cough, Respiratory distress, Pneumonia, Pleural effusion, Tachycardia |
ORPHA:3392 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory failure requiring assisted ventilation, Left ventricular outflow tract obstruction, R... |
ORPHA:308552 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia, Umbilical hernia, Respiratory distress |
ORPHA:226313 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Cardiogenic Shock |
|
Cardiac arrest, Abnormal EKG, ST segment elevation, Dyspnea, Mitral regurgitation, Hypotension, E... |
ORPHA:97292 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
Tetanus |
|
Hypertension, Respiratory distress, Tachypnea, Bradycardia, Tachycardia |
ORPHA:3299 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block |
OMIM:160900 |
Cocaine Intoxication |
|
Subarachnoid hemorrhage, Prolonged QRS complex, Tachypnea, Diffuse alveolar hemorrhage, Hypotensi... |
ORPHA:90068 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
ST segment elevation, Prolonged QRS complex, Pleural effusion, Hypotension, Cardiomyopathy, Apnea... |
OMIM:261740 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Neonatal death |
OMIM:300219 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular tachycardia, Tachypnea, Tachycardia, Arrhythmia, Respiratory distress, Episodic tachy... |
ORPHA:26793 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:89844 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Cardiomyopathy |
ORPHA:79312 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Congenital Tracheomalacia |
|
Intercostal retractions, Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea,... |
ORPHA:95430 |
Temple Syndrome |
|
Hypertriglyceridemia, Flexion contracture, Joint hypermobility, Hypercholesterolemia |
OMIM:616222 |
Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Dyspnea, Mitral regurgitation, Arrhythmia, Respiratory distress,... |
ORPHA:363705 |
Multiple Carboxylase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:148 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Intermittent hyperventilation, Respiratory distress, Episodic tachypnea, Tachycardia, Ap... |
ORPHA:348 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Neonatal death, Respiratory distress, Central apnea, Congestive ... |
OMIM:616482 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... |
OMIM:605814 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Leigh Syndrome With Cardiomyopathy |
|
Mitral regurgitation, Pulmonic stenosis, Apnea, Central hypoventilation, Respiratory distress, Ca... |
ORPHA:70474 |
Eisenmenger Syndrome |
|
Hypoxemia, Tricuspid regurgitation, Supraventricular arrhythmia, Angina pectoris, Atrial fibrilla... |
ORPHA:97214 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Dyspnea, Systolic heart murmur, Syncope, Palpitations, Arrhythmi... |
ORPHA:99104 |
Laron Syndrome |
|
Osteoarthritis, Hypercholesterolemia |
ORPHA:633 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Death in childhood, Respiratory insufficiency due to muscle weakness, Respiratory distress, Respi... |
OMIM:220110 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory insufficiency, Respiratory distress |
ORPHA:1145 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Cerebral ischemia |
ORPHA:927 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory insufficiency, Respiratory distress, Portal hypertension, Congestive heart failure, D... |
ORPHA:367 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Intrauterine growth retardation, Tricuspid regurgitation, Respiratory distress, Persistent fetal ... |
OMIM:612863 |
Choanal Atresia |
|
Tracheomalacia, Chronic sinusitis, Respiratory distress, Upper airway obstruction, Abnormal nasal... |
ORPHA:137914 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Intrauterine growth retardation |
OMIM:619793 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Bone cyst, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
Triosephosphate Isomerase Deficiency |
|
Death in adolescence, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness... |
OMIM:615512 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Pulmonary Hypertension, Primary, 3 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Dyspnea, Increased pulmonary... |
OMIM:615343 |
Hemorrhagic Fever-Renal Syndrome |
|
Dyspnea, Pleural effusion, Hypotension, Cough, Palpitations, Intracranial hemorrhage, Hypertensio... |
ORPHA:340 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Bradycardia, Pulmonary arterial hypertension, Respiratory distress |
OMIM:619272 |
Ataxia-Oculomotor Apraxia 4 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia |
OMIM:616267 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea, Episodic respiratory distress... |
ORPHA:141083 |
Synaptic Congenital Myasthenic Syndromes |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Respiratory insufficiency, Hypove... |
ORPHA:98915 |
Colchicine Poisoning |
|
Myocarditis, Hypotension, Arrhythmia, Cardiorespiratory arrest, Respiratory distress, Congestive ... |
ORPHA:31824 |
Mandibuloacral Dysplasia |
|
Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand... |
ORPHA:2457 |
Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Camptodactyly, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalan... |
OMIM:248370 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy |
OMIM:184260 |
Mucopolysaccharidosis-Plus Syndrome |
|
Death in childhood, Respiratory distress, Recurrent pneumonia, Congestive heart failure, Patent d... |
OMIM:617303 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Patent ductus arteriosus |
ORPHA:2519 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:208920 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Dyspnea, Mitral regurg... |
ORPHA:66529 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
Hyperlipoproteinemia, Type I |
|
Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent... |
OMIM:238600 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Aspiration pneumonia, Hypoventilation, Apnea, Respiratory distress, Recurrent pneumonia |
ORPHA:314655 |
Tetrasomy 5P |
|
Respiratory distress, Heart murmur, Pulmonary arterial hypertension, Congestive heart failure |
ORPHA:3309 |
Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia, Decreased HDL cholesterol co... |
ORPHA:412 |
Arterial Tortuosity Syndrome |
|
Cardiac arrest, Myocarditis, Dyspnea, Telangiectasia of the skin, Hypertension, Cardiorespiratory... |
ORPHA:3342 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... |
ORPHA:247598 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Congenital Enterovirus Infection |
|
Myocarditis, Hypotension, Cardiomyopathy, Respiratory distress, Pleural effusion |
ORPHA:292 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Hypertrophic cardiomyopathy |
OMIM:619383 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Neonatal respiratory distress, Tracheomalacia, Cardiomyopathy, Respiratory distress, Patent ductu... |
OMIM:217980 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
Kniest Dysplasia |
|
Respiratory distress, Umbilical hernia, Tracheomalacia |
OMIM:156550 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Megalocornea-Intellectual Disability Syndrome |
|
Joint hyperflexibility, Hypercholesterolemia, Osteopenia |
ORPHA:2479 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... |
ORPHA:567548 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Vasculitis, Respiratory insufficiency, Left ventricular outflow tract obstruction, Respiratory in... |
ORPHA:365 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Intrauterine growth retardation, Neonatal death, Apnea |
OMIM:608013 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Joint hypermobility, Hypercholesterolemia |
ORPHA:96184 |
Scimitar Syndrome |
|
Pulmonary arterial hypertension, Heart block, Cough, Respiratory distress, Congestive heart failu... |
ORPHA:185 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... |
ORPHA:247585 |
Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Hypotension, Capillary leak, Respiratory distress, Sinusitis, Shock, Pneumonia, Tach... |
ORPHA:36234 |
Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia, Osteopenia |
OMIM:249310 |
Diaphanospondylodysostosis |
|
Respiratory insufficiency, Respiratory distress, Tracheomalacia, Intrauterine growth retardation |
OMIM:608022 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Hypotension, Rhinitis, Respiratory distress, Subconjunctival hemorrhage, Shock, Nonp... |
ORPHA:319213 |
Congenital Myasthenic Syndrome |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Central sleep apnea, S... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Central sleep apnea, S... |
ORPHA:98914 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Recurrent pneumonia, Congestive heart failure, Intrauterine growth retardation |
OMIM:616271 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:615812 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ... |
ORPHA:64753 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Neonatal death |
OMIM:231680 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Pulmonary arterial hypertension, Mitral regurgitation, Tricuspid regurgitation, Airway obstructio... |
ORPHA:505248 |
Galactokinase Deficiency |
|
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia |
ORPHA:79237 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth |
OMIM:151210 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia |
OMIM:202650 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Umbilical hernia, Hypertension |
ORPHA:1555 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Elevated circulating sitosterol concentration, Arthritis, Xanthelasma,... |
OMIM:210250 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Recurrent pneumonia, Patent ductus arteriosus |
OMIM:607143 |
Oculopharyngodistal Myopathy 1 |
|
Aspiration, Hypercapnia, Paroxysmal atrial fibrillation, Restrictive ventilatory defect, Respirat... |
OMIM:164310 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Ethylene Glycol Poisoning |
|
Tachypnea, Hypotension, Tachycardia, Hypertension, Congestive heart failure, Shock, Abnormal patt... |
ORPHA:31826 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in childhood, Neonatal respiratory distress, Hypopnea, Death in infancy, Apnea, Respiratory... |
OMIM:618426 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Inspiratory stridor, Dyspnea, Hypotension |
ORPHA:100050 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Osteoporosis, Hypercholesterolemia, Elevated circulating creatine kinase co... |
ORPHA:79240 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia, Joint stiffness |
ORPHA:819 |
Infantile Krabbe Disease |
|
Respiratory distress, Abnormal heart rate variability, Respiratory failure |
ORPHA:206436 |
Radio-Renal Syndrome |
|
Dyspnea, Respiratory distress, Respiratory failure, Pleural effusion, Chylothorax |
ORPHA:3015 |
Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... |
OMIM:278000 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... |
OMIM:619662 |
Biotinidase Deficiency |
|
Respiratory distress, Hyperventilation, Apnea, Myelopathy |
ORPHA:79241 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Congestive heart failure, Intrauterine growth retardation, Death in infancy |
OMIM:617156 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis, Patent ductus arter... |
ORPHA:210122 |
Sepsis In Premature Infants |
|
Dyspnea, Abnormal respiratory system physiology, Hypotension, Nasal flaring, Bradycardia, Tachyca... |
ORPHA:90051 |
Spondyloepiphyseal Dysplasia Congenita |
|
Restrictive ventilatory defect, Cervical myelopathy, Respiratory distress |
OMIM:183900 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Myocardial infarction, Transient ischemic attack, Respiratory distress |
OMIM:274150 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress |
ORPHA:329178 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Osteoporosis, Hypercholesterolemia, Elevated circulating creatine kinase co... |
ORPHA:264580 |
Brain-Lung-Thyroid Syndrome |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Respiratory distress, Recurrent p... |
ORPHA:209905 |
Q Fever |
|
Myocarditis, Vasculitis, Cough, Respiratory distress, Abnormal left ventricular function, Pneumon... |
ORPHA:781 |
Mgat2-Cdg |
|
Reflex asystolic syncope, Arrhythmia, Respiratory distress, Patent ductus arteriosus |
ORPHA:79329 |
Alternating Hemiplegia Of Childhood |
|
Aspiration, Abnormal T-wave, Arrhythmia, Cardiomyopathy, Apnea, Respiratory distress, Cardiac con... |
ORPHA:2131 |
Idiopathic Hypereosinophilic Syndrome |
|
Raynaud phenomenon, Dyspnea, Cough, Intracranial hemorrhage, Pulmonary embolism, Respiratory dist... |
ORPHA:3260 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Umbilical hernia, Patent ductus arteriosus |
OMIM:618188 |
Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
Lysinuric Protein Intolerance |
|
Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Pathologic fracture, ... |
ORPHA:470 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Auriculocondylar Syndrome |
|
Respiratory distress, Snoring, Obstructive sleep apnea |
ORPHA:137888 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Death in childhood, Recurrent pneumonia, Chronic lung disease |
OMIM:613848 |
Achondroplasia |
|
Upper airway obstruction, Death in infancy, Respiratory distress |
OMIM:100800 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea |
ORPHA:79330 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Toxic Epidermal Necrolysis |
|
Restrictive ventilatory defect, Cough, Sudden cardiac death, Respiratory distress, Gastrointestin... |
ORPHA:537 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Lip telangiectasia, Hypoxemia, Nasal mucosa telangiectasia, Transient ischemic attack, Palate tel... |
OMIM:187300 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Patent ductus arteriosus |
OMIM:613309 |
Nocardiosis |
|
Dyspnea, Productive cough, Nonproductive cough, Respiratory distress, Respiratory failure, Pneumo... |
ORPHA:31204 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Patent ductus arteriosus |
OMIM:300968 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Subdural hemorrhage, Pulmonary embolism, Intrauterine growth ret... |
ORPHA:79282 |
Farber Disease |
|
Respiratory insufficiency, Respiratory distress |
ORPHA:333 |
Listeriosis |
|
Myocarditis, Miscarriage, Respiratory distress, Congestive heart failure, Arteritis, Respiratory ... |
ORPHA:533 |
Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Respiratory paralysis, Abnormal pattern of respiration |
ORPHA:79139 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Hyperventilation, Apnea, Cardiac conduction abnormality, Dilated cardiomyopathy, Hypertr... |
ORPHA:255210 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperuricemia, Gout, Osteoporosis, Osteopenia, Hypertriglyceridemia, Hyperlipidemia, Xanthelasma,... |
ORPHA:79259 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Leptospirosis |
|
Pleural effusion, Hypotension, Cough, Arrhythmia, First degree atrioventricular block, Respirator... |
ORPHA:509 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Patent ductus arteriosus, Hypertrophic cardiomyopathy |
ORPHA:17 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Neona... |
ORPHA:90674 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hypertension |
OMIM:123790 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress |
OMIM:612852 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Congenital Tracheal Stenosis |
|
Dyspnea, Upper airway obstruction, Respiratory distress, Neonatal asphyxia, Patent ductus arterio... |
ORPHA:141127 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Intrauterine growth retardation, Patent ductus arteriosus |
ORPHA:177907 |
Coccidioidomycosis |
|
Vasculitis, Cough, Vasospasm, Respiratory distress, Pleural empyema, Cerebral ischemia, Pneumonia... |
ORPHA:228123 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Patent ductus arteriosus |
ORPHA:1051 |
Gitelman Syndrome |
|
Raynaud phenomenon, Abnormal T-wave, Syncope, Palpitations, Low-to-normal blood pressure, Promine... |
ORPHA:358 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Repeated pneumothoraces, Tracheomalacia, Restrictive ventilatory defect, Respiratory insufficienc... |
ORPHA:536467 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Cryptococcosis |
|
Dyspnea, Cough, Respiratory distress, Pneumonia, Pleural effusion |
ORPHA:1546 |
Esophageal Atresia |
|
Aspiration, Chronic pulmonary obstruction, Laryngotracheomalacia, Restrictive ventilatory defect,... |
ORPHA:1199 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Lowe Oculocerebrorenal Syndrome |
|
Rickets, Camptodactyly of finger, Pathologic fracture, Bicarbonaturia, Elevated circulating creat... |
OMIM:309000 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:370 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Intrauterine growth retardation, Emphysema |
OMIM:224690 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:260400 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Adnp Syndrome |
|
Respiratory distress, Umbilical hernia, Aspiration |
ORPHA:404448 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dyspnea, Stridor, Respiratory distress, Respiratory failure, Pneumothorax, Dilated cardiomyopathy... |
ORPHA:79404 |
Campomelic Dysplasia |
|
Neonatal respiratory distress, Spinal dysraphism, Tracheomalacia, Spina bifida, Apnea, Respirator... |
OMIM:114290 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure |
ORPHA:2554 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Dyspnea, Mitral regurgitation, Arrhythmia, Tricuspid regurgitation, Respiratory distress, Respira... |
ORPHA:2556 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pulmonary arterial hypertension, Mitral regurgitation, Respiratory failure requiring assisted ven... |
ORPHA:99125 |
Gaisböck Syndrome |
|
Increased circulating renin level, Hyperuricemia, Gout, Hyperproteinemia, Hypertriglyceridemia, H... |
ORPHA:90041 |
Arboleda-Tham Syndrome |
|
Neonatal respiratory distress, Pulmonic stenosis, Intrauterine growth retardation, Respiratory di... |
OMIM:616268 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Interstitial pneumonitis, Pneumonia |
ORPHA:37042 |
Heterotaxy, Visceral, 1, X-Linked |
|
Pulmonic stenosis, Myelomeningocele, Respiratory distress, Patent ductus arteriosus, Mitral stenosis |
OMIM:306955 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia, Joint stiffness, Hypokalemia, Osteoma... |
ORPHA:534 |
Immunodeficiency 47 |
|
Joint hypermobility, Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pulmonic stenosis, Umbilical hernia, Intrauterine growth retardation, Respiratory distress, Paten... |
ORPHA:2255 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
8Q24.3 Microdeletion Syndrome |
|
Intrauterine growth retardation, Respiratory distress, Gastrointestinal hemorrhage, Branchial cys... |
ORPHA:508488 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Hypertension, Respiratory failure, Internal hemorrhage |
ORPHA:805 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Central sleep apnea |
OMIM:615273 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress |
OMIM:256810 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Hyponatremia, Hyperkalemia, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
ORPHA:275761 |
Rubinstein-Taybi Syndrome 1 |
|
Spina bifida, Respiratory distress, Obstructive sleep apnea, Spina bifida occulta, Patent ductus ... |
OMIM:180849 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Intrauterine growth retardation, Apnea |
ORPHA:3206 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Rhinitis, Respiratory distress |
OMIM:305100 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Umbilical hernia, Neural tube defect, Recurrent pneumonia |
ORPHA:798 |
Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Plague |
|
Hypotension, Arrhythmia, Respiratory distress, Hematemesis, Acute infectious pneumonia, Tachycardia |
ORPHA:707 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring |
ORPHA:466943 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Respiratory distress, Patent ductus arteriosus |
OMIM:617088 |
Doors Syndrome |
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Sirenomelia, Aspiration pneumonia, Respiratory distress, Spina bifida occulta, Arrhinencephaly |
ORPHA:79500 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:83617 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Cough, Chronic lung disease, Respiratory distress, Pneumonia, Respiratory failure requiring assis... |
ORPHA:95455 |
Generalized Arterial Calcification Of Infancy |
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Pulmonary arterial hypertension, Left ventricular systolic dysfunction, Hypertension, Weak pulse,... |
ORPHA:51608 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Cardiomyopathy, Patent ductus arteriosus |
ORPHA:480880 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Respiratory acidosis |
OMIM:614748 |
Ulbright-Hodes Syndrome |
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Respiratory distress, Severe intrauterine growth retardation, Respiratory failure, Pneumothorax |
ORPHA:3404 |
Alagille Syndrome 1 |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Three M Syndrome 1 |
|
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Growth delay |
OMIM:273750 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Osteopenia, Hyperbilirubinemia, Elevated circulating creatinine co... |
OMIM:619534 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Respiratory distress, Recurrent pneumonia, Intrauterine growth retardation |
ORPHA:99646 |
Homozygous Familial Hypercholesterolemia |
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Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
Pmm2-Cdg |
|
Aspiration pneumonia, Intracranial hemorrhage, Respiratory distress, Angina pectoris, Hypertrophi... |
ORPHA:79318 |
Alström Syndrome |
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Pulmonary arterial hypertension, Chronic pulmonary obstruction, Restrictive ventilatory defect, H... |
ORPHA:64 |
3M Syndrome |
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Intrauterine growth retardation, Short stature |
ORPHA:2616 |