Brugada Syndrome 3 |
|
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... |
OMIM:611875 |
Short Qt Syndrome 1 |
|
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... |
OMIM:609620 |
Short Qt Syndrome 7 |
|
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death |
OMIM:620231 |
Brugada Syndrome 4 |
|
Atrial fibrillation, Syncope, Shortened QT interval |
OMIM:611876 |
Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval |
OMIM:220400 |
Long Qt Syndrome 2 |
|
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... |
OMIM:613688 |
Long Qt Syndrome 10 |
|
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... |
OMIM:611819 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... |
OMIM:613980 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... |
OMIM:613693 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Long Qt Syndrome 14 |
|
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... |
OMIM:616247 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... |
OMIM:192500 |
Long Qt Syndrome 13 |
|
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... |
OMIM:613485 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... |
OMIM:607554 |
Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... |
OMIM:612347 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... |
OMIM:615441 |
Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... |
OMIM:614049 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia |
OMIM:618782 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
Long Qt Syndrome 15 |
|
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... |
OMIM:616249 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... |
OMIM:603830 |
Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... |
OMIM:601494 |
Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... |
ORPHA:101016 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... |
OMIM:617047 |
Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... |
OMIM:163800 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
Wolff-Parkinson-White Syndrome |
|
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... |
OMIM:194200 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... |
OMIM:611528 |
Brugada Syndrome 7 |
|
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... |
OMIM:613120 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval |
ORPHA:90647 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Tako-Tsubo Cardiomyopathy |
|
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... |
ORPHA:66529 |
Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... |
OMIM:615916 |
Muscular Dystrophy, Becker Type |
|
Arrhythmia, Cardiomyopathy, Abnormal EKG |
OMIM:300376 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... |
OMIM:618052 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... |
ORPHA:45452 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... |
OMIM:608751 |
Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... |
ORPHA:1344 |
Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:260370 |
Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension |
OMIM:615378 |
Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... |
OMIM:609040 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:613243 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Overgrowth of external genitalia, Cryptorchidism, Cardiomegaly, Hepatobla... |
OMIM:130650 |
Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
Glycogen Storage Disease Xv |
|
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... |
OMIM:613507 |
Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology |
ORPHA:2849 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
Brugada Syndrome 2 |
|
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Prolonged QT inte... |
OMIM:610198 |
Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gal... |
OMIM:601346 |
Myofibrillar Myopathy 10 |
|
Increased QRS voltage, Prolonged QTc interval |
OMIM:619040 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic pseudocyst |
OMIM:167800 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... |
ORPHA:37553 |
Matthew-Wood Syndrome |
|
Annular pancreas, Abnormality of the uterus, Cryptorchidism, Abnormal spleen morphology, Aplasia/... |
ORPHA:2470 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval |
ORPHA:99880 |
Cirrhotic Cardiomyopathy |
|
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... |
ORPHA:57777 |
Parathyroid Carcinoma |
|
Shortened QT interval |
ORPHA:143 |
Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas |
OMIM:608189 |
Timothy Syndrome |
|
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr... |
OMIM:601005 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
Neonatal Lupus Erythematosus |
|
Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori... |
ORPHA:398124 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... |
ORPHA:103918 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypertension, Hematemesis, Shortened QT interval, Melena |
ORPHA:652 |
Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:251274 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... |
ORPHA:90065 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
Autoimmune Hypoparathyroidism |
|
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval |
ORPHA:36913 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrioventricular block, Dilated cardiomyopathy, Arrhythmia, Ventricular tachycardia, Prolonged QT... |
ORPHA:26793 |
Coronary Arterial Fistula |
|
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... |
ORPHA:2041 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Biliary atresia, Acholi... |
OMIM:615710 |
Yellow Fever |
|
Jaundice, Acute pancreatitis, Pancreatic hyperplasia |
ORPHA:99829 |
Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... |
OMIM:615745 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Abnormality of endocrine pancreas physiology, Abnormality of exocrine pancre... |
ORPHA:93111 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,... |
ORPHA:456312 |
Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... |
ORPHA:563 |
17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Shawl scrotum, Pancreatic aplasia |
ORPHA:261265 |
Cardiogenic Shock |
|
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... |
ORPHA:97292 |
Atrial Septal Defect, Ostium Primum Type |
|
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... |
ORPHA:99106 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Prolonged QT interval,... |
OMIM:170390 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG |
ORPHA:1177 |
Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Jaundice, Recurrent pancreatitis |
ORPHA:676 |
Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Pericarditis |
ORPHA:231111 |
Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... |
ORPHA:330001 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... |
ORPHA:1329 |
Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... |
OMIM:601214 |
Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he... |
ORPHA:90068 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia |
OMIM:613327 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Hypertrophic cardiomyopathy, Ventricular tachycardia, Ventricular fibrillatio... |
OMIM:616878 |
Rett Syndrome |
|
Prolonged QTc interval, Abnormal T-wave |
OMIM:312750 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... |
ORPHA:99103 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Arrhythmia, Abnormal EKG |
ORPHA:480864 |
Igg4-Related Thyroid Disease |
|
Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Pancrea... |
ORPHA:64744 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... |
ORPHA:449432 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Prolonged QT interval, Dilated cardiomyopathy |
ORPHA:71212 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval |
ORPHA:94089 |
Ethylene Glycol Poisoning |
|
Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca... |
ORPHA:31826 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Dilated cardiomyopathy |
ORPHA:66634 |
Congenital Aortic Valve Stenosis |
|
Aortic valve stenosis, Abnormal pulse pressure, Increased QRS voltage, Abnormal T-wave, Reduced l... |
ORPHA:3093 |
Thyrotoxic Periodic Paralysis |
|
Second degree atrioventricular block, Palpitations, Shortened PR interval, Prolonged QT interval,... |
ORPHA:79102 |
Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia |
OMIM:310200 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval |
OMIM:300352 |
Nephronophthisis 13 |
|
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts |
OMIM:614377 |
Gitelman Syndrome |
|
Prolonged QT interval, Hypotension, Palpitations, Ventricular tachycardia |
OMIM:263800 |
Gitelman Syndrome |
|
Prominent U wave, Abnormal T-wave, Palpitations, ST segment depression, Syncope, Raynaud phenomen... |
ORPHA:358 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Cholestasis, Portal hypertension, Splenic cys... |
OMIM:610199 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Biliary tract abnormality, Pancreatic a... |
OMIM:137920 |
Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas |
ORPHA:1305 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Pulmonary arterial hypertension |
OMIM:620029 |
Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts |
OMIM:616307 |
Aceruloplasminemia |
|
Elevated hepatic iron concentration, Abnormal pancreas morphology |
ORPHA:48818 |
Dextrocardia |
|
Abnormal reproductive system morphology, Abnormality of the spleen, Abnormality of abdominal situ... |
ORPHA:1666 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney |
OMIM:200995 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ambiguous genitalia, Pancreatic fibrosis |
OMIM:615503 |
Meckel Syndrome, Type 7 |
|
Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Right ventricular hypert... |
OMIM:267010 |
Von Hippel-Lindau Syndrome |
|
Pheochromocytoma, Hepatic hemangioma, Epididymal cyst, Pancreatic cysts, Neoplasm of the pancreas... |
OMIM:193300 |
Mody |
|
Exocrine pancreatic insufficiency, Hepatocellular adenoma, Pancreatic hypoplasia |
ORPHA:552 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Pancreatitis, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Hepatocellular ca... |
OMIM:232220 |
Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, ST segment depression, ... |
ORPHA:466650 |
Bone Marrow Failure Syndrome 3 |
|
Hyperechogenic pancreas, Pancreatic steatosis, Exocrine pancreatic insufficiency, Cryptorchidism |
OMIM:617052 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Shaw... |
OMIM:616263 |
Shwachman-Diamond Syndrome 2 |
|
Hyperechogenic pancreas, Hepatomegaly, Exocrine pancreatic insufficiency |
OMIM:617941 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... |
OMIM:263200 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension |
ORPHA:231625 |
Meckel Syndrome |
|
Accessory spleen, Cryptorchidism, Congenital hepatic fibrosis, True hermaphroditism, Male pseudoh... |
ORPHA:564 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic cysts, Polyc... |
OMIM:208500 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Pancreatic aplasia |
ORPHA:556955 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Azoospermia, Hepato... |
OMIM:602782 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Abnormal EKG |
OMIM:613102 |
Pancreatoblastoma |
|
Pancreatic calcification, Jaundice |
ORPHA:677 |
Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology |
ORPHA:1190 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Bohring-Opitz Syndrome |
|
Hyperechogenic pancreas, Supernumerary nipple |
OMIM:605039 |
Friedreich Ataxia |
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Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure |
OMIM:229300 |
17Q24.2 Microdeletion Syndrome |
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Prolonged QT interval, Pulmonic stenosis |
ORPHA:529962 |
Jacobsen Syndrome |
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Annular pancreas, Cryptorchidism, Labial hypoplasia, Hypospadias, Clitoral hypoplasia |
OMIM:147791 |
Al Amyloidosis |
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Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Abnormal EKG, Hy... |
ORPHA:85443 |
Pseudohypoparathyroidism Type 1C |
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Prolonged QT interval |
ORPHA:79444 |
Pseudohypoparathyroidism Type 1A |
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Prolonged QT interval, Hypertension |
ORPHA:79443 |
Beckwith-Wiedemann Syndrome |
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Visceromegaly, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Cryptorchidism, P... |
ORPHA:116 |
Simpson-Golabi-Behmel Syndrome |
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Bundle branch block, Prolonged QT interval, Cardiomyopathy |
ORPHA:373 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
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Exocrine pancreatic insufficiency, Absent gallbladder, Pancreatic aplasia |
OMIM:618500 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Micropenis, Hepatic fibrosis, Ambiguous genitalia, Pancreatic fibrosis |
OMIM:263520 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Annular pancreas |
OMIM:618162 |
Dpagt1-Cdg |
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Prolonged QT interval, Intracranial hemorrhage |
ORPHA:86309 |
Fanconi Anemia, Complementation Group D2 |
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Micropenis, Annular pancreas, Cryptorchidism, Hypergonadotropic hypogonadism |
OMIM:227646 |
Pearson Marrow-Pancreas Syndrome |
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Hepatomegaly, Macronodular cirrhosis, Exocrine pancreatic insufficiency, Pancreatic fibrosis |
OMIM:557000 |
Chronic Thromboembolic Pulmonary Hypertension |
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Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... |
ORPHA:70591 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Prolonged QT interval, Tachycardia |
ORPHA:1772 |
Dopamine Beta-Hydroxylase Deficiency |
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Orthostatic syncope, Syncope, Orthostatic hypotension, Abnormal EKG |
ORPHA:230 |
Cardiac Diverticulum |
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Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre... |
ORPHA:1686 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Anterior pituitary agenesis, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Biliary at... |
ORPHA:2255 |
Fryns Syndrome |
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Hypospadias, Bifid scrotum, Polysplenia, Cryptorchidism, Shawl scrotum, Bicornuate uterus, Ectopi... |
OMIM:229850 |
Rothmund-Thomson Syndrome, Type 2 |
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Hypogonadism, Annular pancreas, Cryptorchidism |
OMIM:268400 |
Pearson Syndrome |
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Decreased response to growth hormone stimulation test, Exocrine pancreatic insufficiency, Abnorma... |
ORPHA:699 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Reduced left ventricular ejection fraction, Right bundle branch block, Abnormal EKG |
ORPHA:268 |
Congenital Sialidosis Type 2 |
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Telangiectasia, Abnormal EKG |
ORPHA:93400 |
Distal Deletion 12Q |
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Congenital hypertrophy of left ventricle, Annular pancreas, Pituitary adenoma, Biliary atresia, M... |
ORPHA:96149 |
Trisomy 8P |
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Micropenis, Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Cryptorchidism |
ORPHA:264450 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Reduced pancreatic beta cells, Pancreatic hypoplasia |
ORPHA:99885 |
Autosomal Dominant Polycystic Kidney Disease |
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Pituitary growth hormone cell adenoma, Hepatic cysts, Pancreatic cysts, Polycystic liver disease,... |
ORPHA:730 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Hypospadias, Cryptorchidism, Annular pancreas |
OMIM:616975 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99413 |
Turner Syndrome |
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Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:881 |
Mosaic Monosomy X |
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Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99228 |
Monosomy X |
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Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99226 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
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Annular pancreas |
ORPHA:488642 |
Bohring-Opitz Syndrome |
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Cardiomegaly, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
Absence Of The Pulmonary Artery |
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Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... |
ORPHA:980 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Biliary hyperplasia, Hepatomegaly, Micropenis |
ORPHA:83617 |
Shwachman-Diamond Syndrome |
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Pancreatic hypoplasia, Hypopituitarism, Exocrine pancreatic insufficiency, Decreased response to ... |
ORPHA:811 |
Feingold Syndrome 1 |
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Accessory spleen, Asplenia, Annular pancreas, Polysplenia |
OMIM:164280 |
Liver Disease, Severe Congenital |
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Intrahepatic cholestasis, Portal inflammation, Pancreatic hypoplasia, Exocrine pancreatic insuffi... |
OMIM:619991 |
1P36 Deletion Syndrome |
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Annular pancreas, Abnormal female external genitalia morphology, Hypogonadism, Abnormality of the... |
ORPHA:1606 |
Autosomal Recessive Polycystic Kidney Disease |
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Hepatic fibrosis, Periportal fibrosis, Cholestasis, Hepatosplenomegaly, Hypersplenism, Portal hyp... |
ORPHA:731 |
Jacobsen Syndrome |
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Annular pancreas, Cryptorchidism |
ORPHA:2308 |
Schinzel-Giedion Syndrome |
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Annular pancreas, Streak ovary, Hepatoblastoma, Micropenis, Hypospadias |
ORPHA:798 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Annular pancreas, Asplenia, Bicornuate uterus, Hypospadias, Right ventricular hypertrophy |
OMIM:265380 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Absent gallbladder, Pancreatic hypoplasia, Biliary atresia |
OMIM:600001 |
Noonan Syndrome |
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Hypertrophic cardiomyopathy, Arrhythmia, Abnormal EKG |
ORPHA:648 |
Friedreich Ataxia 2 |
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Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy |
OMIM:601992 |
African Trypanosomiasis |
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Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... |
ORPHA:3385 |