Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy |
OMIM:254120 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Congestive heart failure, Death in adolescence, Pulmonary arterial hyperten... |
OMIM:619751 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... |
OMIM:610476 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef... |
ORPHA:45452 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi... |
OMIM:612877 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal cardiovascular system physiology, Abnormal respiratory sy... |
ORPHA:50251 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Reduced left ventricul... |
OMIM:620236 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ... |
ORPHA:264675 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea |
ORPHA:1832 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cardiac arrest, Cough |
ORPHA:77260 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... |
OMIM:613838 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Dyspnea, Syncope, Arrhythmia |
ORPHA:871 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Abnormal heart rate variability,... |
ORPHA:70588 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru... |
ORPHA:2414 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, 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, Intrauterine growth retardation, Cardiomyopathy |
ORPHA:26792 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... |
ORPHA:99105 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Reduced left ventricular ejection fraction, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... |
OMIM:613243 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
Acute Lung Injury |
|
Shock, Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Hypoxemi... |
ORPHA:178320 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac... |
ORPHA:36238 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... |
ORPHA:70587 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Right bundle branch block, Reduced left ventricula... |
OMIM:115195 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Diaphanospondylodysostosis |
|
Respiratory distress, Myelomeningocele |
ORPHA:66637 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Congestive heart failure, Nonprod... |
ORPHA:454836 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart murmur, Syncop... |
ORPHA:422 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Dyspnea, Left posterior fascicular block, Right bundle branch block, Syncop... |
OMIM:113900 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degr... |
OMIM:115197 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa... |
ORPHA:563 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... |
ORPHA:1329 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... |
OMIM:614299 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension |
ORPHA:247257 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Intrauterine growth retardation, Death in childhood |
OMIM:615597 |
Nipah Virus Disease |
|
Respiratory distress, Hypotension, Cough |
ORPHA:99825 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Respiratory insufficiency |
OMIM:601612 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress |
OMIM:615042 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Intrauterine growth retardation, Hypertension |
OMIM:616733 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... |
OMIM:612098 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Congestive hear... |
ORPHA:3092 |
Slc35A1-Cdg |
|
Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage |
ORPHA:238459 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Blood pressure substa... |
ORPHA:2299 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... |
OMIM:608758 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Cardiomyopathy, Dyspnea, Cough |
ORPHA:86812 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Pulmonary insufficiency, Neonatal death, Respiratory insufficiency |
OMIM:245650 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Abnormal capillary physiology, Upper airway obstruction |
ORPHA:100057 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Patent ductus arteriosus |
ORPHA:166272 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Cardiac arrest, Hypertrophic cardiomyopathy, Inspiratory ... |
OMIM:604377 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... |
ORPHA:330021 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Palpitations, Hypertrophi... |
OMIM:613873 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough |
ORPHA:142 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia |
ORPHA:596 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Hypertrophi... |
OMIM:212140 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration |
OMIM:620011 |
Tularemia |
|
Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion |
ORPHA:3392 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:261304 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Stt3B-Cdg |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:370924 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Joint hypermobility |
ORPHA:254531 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Patent ductus arteriosus, Telangiectasia |
OMIM:608799 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... |
OMIM:211530 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Dy... |
OMIM:609040 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Umbilical hernia, Bradycardia |
ORPHA:226313 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block |
OMIM:160900 |
Tetanus |
|
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia |
ORPHA:3299 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Neonatal death |
OMIM:300219 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Respiratory distress, Tachycardia, Episodic tachypnea, Pneumonia, Dilated ... |
ORPHA:26793 |
Cocaine Intoxication |
|
Prolonged QT interval, Respiratory distress, Tachycardia, Prolonged QRS complex, Myocardial infar... |
ORPHA:90068 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:89844 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Left axis deviation, Congestive heart failure... |
OMIM:261740 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Cardiomyopathy |
ORPHA:79312 |
Temple Syndrome |
|
Hypercholesterolemia, Flexion contracture, Joint hypermobility, Hypertriglyceridemia |
OMIM:616222 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
ORPHA:254913 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Congestive heart... |
ORPHA:363705 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Neonatal deat... |
OMIM:616482 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... |
ORPHA:348 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Respiratory fai... |
OMIM:620278 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Supraventricular tachycardi... |
ORPHA:97214 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Choanal Atresia |
|
Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal... |
ORPHA:137914 |
Laron Syndrome |
|
Hypercholesterolemia, Osteoarthritis |
ORPHA:633 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Cerebral ischemia |
ORPHA:927 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Resp... |
ORPHA:367 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Hypercholesterolemia, Bone cyst, Increased C-peptide level |
ORPHA:528 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Intrauterine growth retardation |
OMIM:619793 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Congest... |
OMIM:615512 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... |
OMIM:615343 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Respiratory distress, Tachycardia, Epistaxis, Pneumonia, Hematemesis, Dyspnea, Capillary l... |
ORPHA:340 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Patent ductus arteri... |
OMIM:612863 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Colchicine Poisoning |
|
Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Cardiorespiratory arres... |
ORPHA:31824 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Contractures of the large join... |
ORPHA:2457 |
Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Calcinosis, Joint stiffness, Hyperlipidemia, Flexion contracture, Elbow flexion contr... |
OMIM:248370 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Patent ductus arteriosus |
ORPHA:2519 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Congestive heart failure, Patent ductus arteriosus, Recurrent pneumonia, De... |
OMIM:617303 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy |
OMIM:184260 |
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, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Gout, Increased LDL cholesterol co... |
ORPHA:412 |
Tetrasomy 5P |
|
Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension, Heart murmur |
ORPHA:3309 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congesti... |
ORPHA:3342 |
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 |
|
Respiratory distress, Neonatal respiratory distress, Patent ductus arteriosus, Cardiomyopathy, Tr... |
OMIM:217980 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Kniest Dysplasia |
|
Respiratory distress, Umbilical hernia, Tracheomalacia |
OMIM:156550 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Joint hyperflexibility, Hypercholesterolemia |
ORPHA:2479 |
Congenital Enterovirus Infection |
|
Respiratory distress, Myocarditis, Cardiomyopathy, Hypotension, Pleural effusion |
ORPHA:292 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Scimitar Syndrome |
|
Respiratory distress, Left-to-right shunt, Heart block, Congestive heart failure, Patent ductus a... |
ORPHA:185 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Joint hypermobility |
ORPHA:96184 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Intrauterine growth retardation, Apnea, Neonatal death |
OMIM:608013 |
Lujo Hemorrhagic Fever |
|
Shock, Respiratory distress, Crackles, Myocarditis, Nonproductive cough, Subconjunctival hemorrha... |
ORPHA:319213 |
Neuhauser Syndrome |
|
Osteopenia, Hypercholesterolemia |
OMIM:249310 |
Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Respiratory distress, Tachycardia, Sinusitis, Pneumonia, Myocarditis, Tachypnea, Capillary... |
ORPHA:36234 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Diaphanospondylodysostosis |
|
Respiratory distress, Intrauterine growth retardation, Tracheomalacia, Respiratory insufficiency |
OMIM:608022 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Intrauterine growth retardation, Recurrent pneumonia, Congestive heart failure |
OMIM:616271 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia |
OMIM:202650 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent duct... |
ORPHA:505248 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Neonatal death |
OMIM:231680 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia |
ORPHA:79237 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory insufficiency due to musc... |
ORPHA:365 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,... |
OMIM:164310 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Arthritis, Xanthelasm... |
OMIM:210250 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth |
OMIM:151210 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Umbilical hernia, Hypertension |
ORPHA:1555 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Patent ductus arteriosus, Recurrent pneumonia |
OMIM:607143 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Tachypn... |
ORPHA:31826 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... |
OMIM:618426 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Inspiratory stridor, Hypotension |
ORPHA:100050 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Joint stiffness |
ORPHA:819 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Osteoporosis, Elevated circulating creatine kinase co... |
ORPHA:79240 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Infantile Krabbe Disease |
|
Abnormal heart rate variability, Respiratory failure, Respiratory distress |
ORPHA:206436 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis, Patent ductus arter... |
ORPHA:210122 |
Biotinidase Deficiency |
|
Respiratory distress, Myelopathy, Apnea, Hyperventilation |
ORPHA:79241 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Intrauterine growth retardation, Congestive heart failure, Death in infancy |
OMIM:617156 |
Sepsis In Premature Infants |
|
Tachycardia, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respiratory system ... |
ORPHA:90051 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Cervical myelopathy, Restrictive ventilatory defect |
OMIM:183900 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Tricuspid regurgitation |
OMIM:620306 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Transient ischemic attack, Myocardial infarction |
OMIM:274150 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Osteoporosis, Elevated circulating creatine kinase co... |
ORPHA:264580 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress |
ORPHA:329178 |
Congenital Myasthenic Syndrome |
|
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... |
ORPHA:98914 |
Q Fever |
|
Respiratory distress, Pericarditis, Pneumonia, Myocarditis, Vasculitis, Abnormal left ventricular... |
ORPHA:781 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Cardiac conduction abnormality, Aspiration, Cardiomyopathy, Abnormal... |
ORPHA:2131 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Hyperalaninemia, Hypertriglyceridemia, Hyper... |
ORPHA:470 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Umbilical hernia, Patent ductus arteriosus |
OMIM:618188 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism,... |
ORPHA:3260 |
Mgat2-Cdg |
|
Respiratory distress, Arrhythmia, Patent ductus arteriosus, Reflex asystolic syncope |
ORPHA:79329 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood |
OMIM:613848 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Upper airway obstruction |
OMIM:100800 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea |
ORPHA:79330 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Respiratory distress, Sudden cardiac death, Restrictive ventilatory ... |
ORPHA:537 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... |
OMIM:187300 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Patent ductus arteriosus |
OMIM:613309 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pn... |
ORPHA:31204 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Patent ductus arteriosus |
OMIM:300968 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Pulmonary ... |
ORPHA:79282 |
Listeriosis |
|
Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Congestive heart failure... |
ORPHA:533 |
Farber Disease |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:333 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Hyperlipidemia, Osteoporosis, Gout, Increased susceptibility to... |
ORPHA:79259 |
Japanese Encephalitis |
|
Respiratory distress, Respiratory paralysis, Abnormal pattern of respiration, Irregular respiration |
ORPHA:79139 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Episodic respiratory dist... |
ORPHA:255210 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Apnea |
ORPHA:17 |
Leptospirosis |
|
Respiratory distress, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subc... |
ORPHA:509 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyr... |
ORPHA:90674 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hypertension |
OMIM:123790 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Patent ductus arteriosus, Upper airwa... |
ORPHA:141127 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Intrauterine growth retardation, Patent ductus arteriosus |
ORPHA:177907 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress |
OMIM:612852 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion |
ORPHA:1546 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Patent ductus arteriosus |
ORPHA:1051 |
Esophageal Atresia |
|
Respiratory distress, Episodic respiratory distress, Chronic pulmonary obstruction, Restrictive v... |
ORPHA:1199 |
Gitelman Syndrome |
|
Prolonged QT interval, Respiratory distress, Raynaud phenomenon, Low-to-normal blood pressure, Sy... |
ORPHA:358 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Pneumonia, Vasculitis, Vasospasm, Cerebral ischemia, Pleural ... |
ORPHA:228123 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Respiratory insufficiency, Restrictive ventilatory... |
ORPHA:536467 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Lowe Oculocerebrorenal Syndrome |
|
Hypercholesterolemia, Camptodactyly of finger, Osteomalacia, Elevated circulating creatine kinase... |
OMIM:309000 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Intrauterine growth retardation, Emphysema, Death in infancy |
OMIM:224690 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Pleural effusion |
OMIM:620369 |
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 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Gout, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, H... |
ORPHA:90041 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Stridor, Respirat... |
ORPHA:79404 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Spinal dysraphism, Stri... |
OMIM:114290 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Tricuspid ... |
ORPHA:99125 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea |
ORPHA:2554 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Interstitial pneumonitis, Pneumonia |
ORPHA:37042 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Patent ductus arteriosus, Pulmonic stenosis,... |
OMIM:616268 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopathy, Hypertrophic card... |
ORPHA:2556 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Myelomeningocele, Patent ductus arteriosus, Pulmonic stenosis, Mitral stenosis |
OMIM:306955 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Patent ductus arteriosus, Pulmonic stenosis, Umbilical hernia, Intrauterine... |
ORPHA:2255 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Recurrent fractures, Osteomalacia, Joint stiffness, Hypoammonemia, Joint hyperflexi... |
ORPHA:534 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Gastrointestinal hemorrhage, Respiratory distress, Patent ductus arteriosus, Intr... |
ORPHA:508488 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Decreased circulating copper concentration, Joint hypermobility |
OMIM:300972 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Hypertension, Respiratory failure, Internal hemorrhage |
ORPHA:805 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress |
OMIM:256810 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Intrauterine growth retardation, Asthma, Apnea |
ORPHA:3206 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Patent ductus arteriosus, Spina bifida occulta, Spina bifida |
OMIM:180849 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis |
OMIM:305100 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Umbilical hernia, Recurrent pneumonia, Neural tube defect |
ORPHA:798 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress |
OMIM:615273 |
Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Plague |
|
Respiratory distress, Tachycardia, Hematemesis, Acute infectious pneumonia, Hypotension, Arrhythmia |
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 |
|
Respiratory distress, Patent ductus arteriosus |
OMIM:617088 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:83617 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... |
ORPHA:95455 |
Doors Syndrome |
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Respiratory distress, Spina bifida occulta, Aspiration pneumonia, Sirenomelia |
ORPHA:79500 |
Generalized Arterial Calcification Of Infancy |
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Respiratory distress, Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak pulse, Le... |
ORPHA:51608 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Respiratory distress, Cardiomyopathy, Patent ductus arteriosus |
ORPHA:480880 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Respiratory distress, Neonatal respiratory distress, Respiratory acidosis |
OMIM:614748 |
Ulbright-Hodes Syndrome |
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Respiratory distress, Respiratory failure, Pneumothorax, Severe intrauterine growth retardation |
ORPHA:3404 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Osteopenia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated... |
OMIM:619534 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Three M Syndrome 1 |
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Growth delay, Intrauterine growth retardation, Postnatal growth retardation, Short stature |
OMIM:273750 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Respiratory distress, Intrauterine growth retardation, Recurrent pneumonia |
ORPHA:99646 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Pmm2-Cdg |
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Respiratory distress, Pericarditis, Angina pectoris, Intracranial hemorrhage, Aspiration pneumoni... |
ORPHA:79318 |
Alström Syndrome |
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Respiratory distress, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Chro... |
ORPHA:64 |
3M Syndrome |
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Intrauterine growth retardation, Short stature |
ORPHA:2616 |