Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Wheezing, Crackles, Third heart sound, Abnormal E... |
ORPHA:1329 |
Atrial Septal Defect, Ostium Primum Type |
|
Left atrial enlargement, Syncope, Abnormal respiratory system physiology, Third heart sound, Exer... |
ORPHA:99106 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Pericardial effusion, Ascites, Ventricular hy... |
OMIM:115197 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... |
OMIM:614954 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Hepatomegaly, Atrial fibrillation,... |
ORPHA:75249 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Ventricular arrhythmia, Third heart sound, Pulmonary edema, Jaundice, Gl... |
ORPHA:57777 |
Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... |
ORPHA:980 |
Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Anomalous pulmonary veno... |
ORPHA:99105 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... |
OMIM:108900 |
Atrioventricular Septal Defect 3 |
|
Hypertension, Primum atrial septal defect, Atrioventricular canal defect, Pulmonary arterial hype... |
OMIM:600309 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... |
OMIM:612158 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly |
ORPHA:2274 |
Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... |
OMIM:108770 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... |
ORPHA:99103 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Ascites, Cardiomegaly, Cardiomyopathy, Bradycardia, Cyanosis, Pulmonar... |
OMIM:261740 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Syncope, Abnormal jugular vein morphology, Abnormality of ... |
ORPHA:1677 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of... |
OMIM:237800 |
Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... |
ORPHA:330001 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Tachycardia, Bradycardia, Respiratory tract infection, Pulmonary... |
ORPHA:70587 |
Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Hypoxemia, Pericardial effusion, Pulmonary capillary hemangiomatosis, ... |
ORPHA:199241 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hypertrophic cardiomyopathy, Dyspnea, Congestive heart failure, Endocardial fibrosis |
OMIM:613255 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Death in infancy, Cardiomyopathy |
OMIM:212080 |
Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Vascular dilatation, Congestive heart failure, Im... |
OMIM:600884 |
Desminopathy |
|
Concentric hypertrophic cardiomyopathy, Atrioventricular block, Respiratory insufficiency due to ... |
ORPHA:98909 |
Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... |
ORPHA:1344 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
Cardiomyopathy, Dilated, 1J |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... |
OMIM:605362 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... |
ORPHA:860 |
Endocardial Fibroelastosis |
|
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy |
OMIM:226000 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Sick sinus syndrome, Prolonged PR interval, Patent forame... |
ORPHA:542306 |
Coronary Arterial Fistula |
|
Coronary artery aneurysm, Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Exertional dy... |
ORPHA:2041 |
Long Qt Syndrome 16 |
|
T-wave alternans, Patent ductus arteriosus after birth at term, Perimembranous ventricular septal... |
OMIM:618782 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Increased total iron bin... |
OMIM:616278 |
Truncus Arteriosus |
|
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edem... |
ORPHA:3384 |
Histiocytoid Cardiomyopathy |
|
Pulmonary edema, Loss of consciousness, Shortened PR interval, Junctional ectopic tachycardia, Le... |
ORPHA:137675 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, A... |
OMIM:613673 |
Isolated Right Ventricular Hypoplasia |
|
Right ventricular failure, Hypoxemia, Systolic heart murmur, Right bundle branch block, Cardiomeg... |
ORPHA:439 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Chronic pulmonary obstruction, Ascites, Pulmonary arterial hypert... |
ORPHA:2414 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... |
OMIM:115200 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Cardiac myxoma, Ascites, Cardiomegaly, Tricuspid regurgitation, Jaundice,... |
ORPHA:615 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... |
OMIM:615373 |
Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Abnormality of the liver, Prolonged... |
ORPHA:79234 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hepatomegaly, Ventricular tachycardia, Atrioventricular block,... |
OMIM:212138 |
Brugada Syndrome 2 |
|
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
Timothy Syndrome |
|
Ventricular septal defect, Prolonged QT interval, Pneumonia, Cardiomegaly, Bradycardia, Patent du... |
OMIM:601005 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome, Arrhyt... |
OMIM:617182 |
Familial Dilated Cardiomyopathy |
|
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... |
ORPHA:217607 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Respiratory insufficiency, Bradycardia, Patent ductus arteriosus, Hy... |
OMIM:616276 |
Loeffler Endocarditis |
|
Left atrial enlargement, Aortic valve stenosis, Pericarditis, Mitral regurgitation, Abnormal morp... |
ORPHA:75566 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Respiratory insufficiency, Ascites, Edema, Abnormal tricuspid valve morphology, Pat... |
ORPHA:90308 |
Cardiomyopathy, Dilated, 1Dd |
|
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death |
OMIM:613172 |
Rotor Syndrome |
|
Bilirubinuria, Porphyrinuria, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Intermittent jau... |
ORPHA:3111 |
Progressive Familial Heart Block, Type Ia |
|
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... |
OMIM:113900 |
Cardiomyopathy, Dilated, 1L |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:606685 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Syncope, Congestive heart failure |
OMIM:613694 |
Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Syncope, Congestive heart failure |
OMIM:613697 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Edema, Cardiomyocyte hypertrophy, Death in adole... |
OMIM:605676 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Ventricular hypertrophy, Apnea, Bradycardia, Left ventricular hypertrophy, Hepatic ... |
OMIM:619048 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Exertional dyspnea, Ventricular septal ... |
ORPHA:3092 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Paroxysm... |
ORPHA:563 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... |
OMIM:214900 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Rhinorrhea, Cough, Pancreatitis, Pulmonary edema, Cardiorespiratory ar... |
ORPHA:188 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Confusion, Hypoxemia, Reduced ejection fraction, Elevated hepatic transaminase, Tachypnea, Tachyc... |
ORPHA:542323 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Respiratory distress, Pulmo... |
OMIM:617300 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... |
OMIM:600858 |
Dubin-Johnson Syndrome |
|
Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice |
OMIM:237500 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Lethargy, Ventricular septal defect, Hepatomegaly, Prolonged QT interval,... |
ORPHA:26793 |
Asbestos Intoxication |
|
Cor pulmonale, Right ventricular failure, Wheezing, Lung adenocarcinoma, Pleural thickening, Exer... |
ORPHA:2302 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Abnormal aortic morphology, Atrioventricular canal defect, Atrioventri... |
ORPHA:392 |
Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Death in infancy, Reduced ejection fraction, Mitral regurgitation, Pulmon... |
OMIM:619371 |
Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Exertional dyspnea, Transient ischemic a... |
ORPHA:99104 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... |
ORPHA:45453 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... |
OMIM:608751 |
Scimitar Syndrome |
|
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... |
ORPHA:185 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Increased total bilirubin, Polycystic liver disease, Abnormality of the pancreas, M... |
ORPHA:2924 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... |
OMIM:210500 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... |
OMIM:613496 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Hypoxemia, Pneumonia, Pancreatitis, Abnormal blood gas level, Vasculitis, Pulmonary edema,... |
ORPHA:70578 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomyopathy, Splenomegaly, Cirrhosis, Congestive heart f... |
OMIM:602390 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left atrial enlargement, Atrial fibrillation, Mitral regurgitation, Congestive heart failure, Dys... |
OMIM:617047 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Hepatomegaly, Prolonged QT interval, Cutaneous photosensitivity, Elevated... |
ORPHA:398124 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... |
ORPHA:75565 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
Sandhoff Disease |
|
Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Ataxia, Congestive heart failure, Recu... |
ORPHA:796 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatosplenomegaly, Reduced renal corticomedullary d... |
ORPHA:84081 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis |
OMIM:192600 |
Congenital Gerbode Defect |
|
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Crackles, Vascular dil... |
ORPHA:99095 |
Crigler-Najjar Syndrome Type 2 |
|
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... |
ORPHA:1345 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Renal cyst, Increased total bilirubin, Polycystic liver disease |
OMIM:174050 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... |
OMIM:616201 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Renal insufficie... |
ORPHA:890 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... |
OMIM:613070 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Bradykinesia, Ataxia, Death in childhood, Lethargy |
OMIM:618683 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal defect, Cardiac arrest, C... |
ORPHA:49827 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... |
OMIM:615248 |
Harderoporphyria |
|
Hepatomegaly, Neonatal hyperbilirubinemia, Increased urine harderoporphyrin level, Splenomegaly, ... |
OMIM:618892 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia, Jaundice |
OMIM:237900 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Death in infancy, Bradycardia, Hydrops fetalis |
OMIM:618815 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema, Edema |
OMIM:178400 |
Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Drowsiness, Palpitations, Tachycardia, Diffus... |
ORPHA:276556 |
Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis |
OMIM:617222 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:613881 |
Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:611880 |
Nephronophthisis 16 |
|
Hepatic fibrosis, Nephronophthisis, Polycystic kidney dysplasia, Cholestasis, Renal insufficiency... |
OMIM:615382 |
Atrial Fibrillation, Familial, 7 |
|
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval |
OMIM:612240 |
Malaria |
|
Gait imbalance, Anemia, Hyperbilirubinemia, Acute kidney injury, Thrombocytopenia, Elevated circu... |
ORPHA:673 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Hepatomegaly, Endocardial fibroe... |
OMIM:212140 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Drowsiness, Focal pancreatic islet hyperplasi... |
ORPHA:276575 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia, Jaundice |
OMIM:129850 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic steat... |
OMIM:618234 |
Lethal Infantile Mitochondrial Myopathy |
|
Neonatal respiratory distress, Fatal liver failure in infancy, Cardiomyopathy, Lethargy |
ORPHA:254857 |
Pulmonary Arteriovenous Malformation |
|
Bacterial endocarditis, Telangiectasia, Hypoxemia, Palpitations, Epistaxis, Pulmonary arterial hy... |
ORPHA:2038 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... |
ORPHA:300751 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Abnormal descending aorta morphology, Patent ductus arteriosus, Exertional d... |
ORPHA:99050 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Arrhythmia, Cardiomyopathy |
OMIM:616198 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Sudden cardiac death, Atrioventricular block, Waddling gait, Atrial arrhythmia |
OMIM:310300 |
Polymyositis |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance, Hepatomegaly, Pericarditis... |
ORPHA:732 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Left-to-right shunt, Neonatal death, Patent ductus arteriosus, Splenomegaly, Common atrium, Prolo... |
OMIM:619534 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Respiratory insufficiency, Patent ductus ar... |
ORPHA:1880 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Pancytopenia, Hepatocellular carcinoma, Nephroblastoma... |
ORPHA:158057 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Death in infancy, Respiratory ... |
OMIM:614299 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia, Jaundice |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237550 |
Aorto-Ventricular Tunnel |
|
Abnormal aortic morphology, Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary arte... |
ORPHA:3400 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Drowsiness, Palpitations, Tachycardia, Diffus... |
ORPHA:276580 |
Idiopathic Pulmonary Arterial Hypertension |
|
Syncope, Abnormal jugular vein morphology, Right ventricular hypertrophy, Palpitations, Pulmonary... |
ORPHA:275766 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... |
OMIM:263200 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237450 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Hepatomegaly, Respiratory insufficiency, Ascites, Petechiae, Bradycardia, Pa... |
OMIM:617397 |
Ethylene Glycol Poisoning |
|
Shock, Hypertension, Drowsiness, Prolonged QT interval, Atrial fibrillation, Abnormal pattern of ... |
ORPHA:31826 |
Lipoyltransferase 1 Deficiency |
|
Dystonia, Death in infancy, Pulmonary arterial hypertension, Bradycardia, Decreased liver functio... |
OMIM:616299 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... |
ORPHA:2299 |
Eisenmenger Syndrome |
|
Right ventricular failure, Syncope, Left-to-right shunt, Wheezing, Ventricular arrhythmia, Patent... |
ORPHA:97214 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Respiratory distress, Cyanosis, Low-output congestive heart failure |
ORPHA:91130 |
Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Abnormality of the liver, Congestive heart failure, Respiratory failure, R... |
ORPHA:132 |
Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Congestive heart failure, Restrictive cardiomyopathy |
ORPHA:2022 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Cardiomyopathy, Respiratory distress, Hepatic steatosis, Lethargy |
ORPHA:26792 |
Familial Progressive Cardiac Conduction Defect |
|
Syncope, Heart block, Bundle branch block, Congestive heart failure, Dyspnea, Arrhythmia |
ORPHA:871 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dystonia, Hepatomegaly, Decreased liver function, Ataxia, Elevated h... |
OMIM:246900 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Primum atrial septal defect, Partial atrioventricular canal defect, Polysplenia, Situs inversus t... |
OMIM:619608 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Hepatomegaly, Pericardial effusion, Systolic heart murmur, Right ventricular hypertrop... |
ORPHA:555874 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated hepatic transamin... |
OMIM:618528 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Exertional dyspnea, Transient ischemic ... |
ORPHA:1330 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Dystonia, Bradycardia, Respiratory insufficiency |
OMIM:614654 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:218800 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Respiratory insufficiency, Lethargy |
OMIM:618228 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Syncope, Hepatomegaly, Right ventricular dilatation, Palpitations, Elevated jugular venous pressu... |
ORPHA:422 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... |
OMIM:616689 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Cirrhosis, Hypercholesterolemia, Hyp... |
OMIM:605814 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Cocaine Intoxication |
|
Wheezing, Ventricular arrhythmia, Pulmonary edema, Reduced consciousness/confusion, Diffuse alveo... |
ORPHA:90068 |
Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Subcutaneous calcification, Congestive heart failure, Prominent super... |
ORPHA:141179 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Leukopenia, Ascites, Anemia, Hyperbilirubinemia, Nodular regenerative h... |
ORPHA:64743 |
Scorpion Envenomation |
|
Myocarditis, Prominent U wave, Cardiac conduction abnormality, ST segment depression, Pulmonary e... |
ORPHA:466677 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... |
OMIM:607765 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, I... |
OMIM:235555 |
Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... |
OMIM:613426 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... |
OMIM:601494 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertrophic cardiomyopathy, Hypertension, Ataxia, Congestive heart failure, Arrhythmia |
ORPHA:225 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Ascites, Depletion of mitochond... |
OMIM:251880 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... |
OMIM:614480 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Hyperbilirubinemia, Decreased liver function, Hepatic steatosis, Cholestasis, El... |
OMIM:614300 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Atrioventricular block, Bradycardia, Acrocyanosis, Truncal ataxia |
OMIM:614407 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... |
ORPHA:79302 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Death in infancy, Pulmonary arterial hypertension, Cardiomegaly, Death in childhood... |
OMIM:619064 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia... |
OMIM:185000 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Elevated hepatic transaminase, Coma, Loss of conscious... |
ORPHA:156 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Inability to walk, Congestive heart failure, Left ventricular hypertrophy |
ORPHA:206546 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Nonsphe... |
OMIM:235700 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Enlarged kidney |
OMIM:615415 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Respiratory arrest, Hepatomegaly, Ventricular tachycardia, Cardiomegaly, ... |
OMIM:600649 |
Typhoid |
|
Hepatomegaly, Epistaxis, Cough, Splenomegaly, Ataxia, Gastrointestinal hemorrhage, Abnormal pulmo... |
ORPHA:99745 |
Paroxysmal Extreme Pain Disorder |
|
Rhinorrhea, Tachycardia, Bradycardia, Flushing |
OMIM:167400 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619232 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Subcutaneous calcification, Congestive heart failure, Prominent super... |
ORPHA:141184 |
Aa Amyloidosis |
|
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Cholestasis, Nephropathy, Chronic kidney d... |
ORPHA:85445 |
Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormality of the liver, Conjugated hyperbilirubinemia, Abnormal urinary color, Bi... |
ORPHA:234 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... |
OMIM:243300 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Dystonia, Unconjugated hyperbilirubinemia, Polycythemia, Steppage gait, Bradykinesi... |
OMIM:613280 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Hypertension, Hypoxemia, Pericardial effusion, Crackle... |
ORPHA:79126 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, I... |
OMIM:601847 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left atrial enlargement, Left ventricular no... |
OMIM:619424 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Abnormal heart morphology, Recurrent respiratory infections, Atrial septal defect |
OMIM:617744 |
3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Prolonged QT interval, Noncompaction ca... |
OMIM:610198 |
Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension, Micronodular cirrhosis, Jaundice, Lethargy |
OMIM:215600 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... |
ORPHA:1686 |
Cardiogenic Shock |
|
Right ventricular failure, Hypoxemia, Confusion, Crackles, Mitral regurgitation, Low pulse pressu... |
ORPHA:97292 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Cardiomyopathy, Splenomegaly, Cirrhosis, Congestive heart failure... |
OMIM:613313 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Gait disturbance, Abnormal left ventricular function, Cardiomyopathy, Heart block |
ORPHA:98912 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... |
ORPHA:79303 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosi... |
OMIM:182900 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Nephrotic syndrome, Ascites, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Co... |
OMIM:269920 |
Hemochromatosis, Type 1 |
|
Telangiectasia, Hepatomegaly, Ascites, Hepatocellular carcinoma, Cardiomegaly, Cardiomyopathy, Sp... |
OMIM:235200 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale, Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Rec... |
OMIM:263000 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal Fanconi syndrome, Elevated urinary delta-aminolevulinic acid, Hepatocellular ... |
OMIM:276700 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation |
OMIM:611878 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly, Congestive heart failure, Reduced vital capacity, Respiratory insufficiency |
OMIM:618654 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatic fa... |
OMIM:214950 |
Barth Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance, Endocardial fibroelastosis... |
OMIM:302060 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Edema, Respiratory distress, Pulmonary edema, Dyspnea, ... |
OMIM:267450 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Cardiomyopathy, Lethargy |
OMIM:201470 |
Cardiomyopathy, Dilated, 2B |
|
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation |
OMIM:614672 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Obstructive sleep apnea, Abnormal heart morphology, Central sleep ap... |
ORPHA:70472 |
Babesiosis |
|
Hepatomegaly, Respiratory insufficiency, Cough, Splenomegaly, Myocardial infarction, Coma, Conges... |
ORPHA:108 |
Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
Acquired Methemoglobinemia |
|
Syncope, Hypoxemia, Drowsiness, Palpitations, Tachycardia, Respiratory distress, Cyanosis, Coma, ... |
ORPHA:464453 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death, Congestive heart failure |
OMIM:301021 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Death in infancy, Apnea, Bradycardia, Respiratory failure |
OMIM:617248 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Death in infancy, Pancreatitis, Hepatic steatosis, Elevated circulat... |
OMIM:619386 |
Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Bradycardia, Facial edema, Lethargy |
ORPHA:95717 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Apnea, Abnormal ST segment, Congestive heart failure, Abnormal left ventricle mo... |
ORPHA:1055 |
Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... |
OMIM:108800 |
Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance, Ventricular escape rhythm,... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance, Ventricular escape rhythm,... |
ORPHA:98853 |
Encephalopathy Due To Prosaposin Deficiency |
|
Dystonia, Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly, Trimethylaminuria, Depression |
OMIM:602079 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Tachypnea, Supraventricular tachycardia, Hydrops... |
ORPHA:45452 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Gait disturbance, Ventricular escape rhythm, Atrioventricular block, Wadd... |
ORPHA:98855 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
Myotonic Dystrophy 1 |
|
Atrial fibrillation, Cholelithiasis, Polyhydramnios, Excessive daytime somnolence, Respiratory di... |
OMIM:160900 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Leukopenia,... |
OMIM:267700 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Ascites, Anxiety, Fulminant hepatitis, Increased total bilirubin, Acute... |
ORPHA:2137 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Reduced ejection fraction, Angina pectoris, Res... |
ORPHA:85451 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Anxiety, Depression, Elevated urin... |
OMIM:121300 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Death in infancy, Abnormal aortic valve morphology, Re... |
ORPHA:1194 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Anomalous branches of internal carotid artery, G... |
ORPHA:363705 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:143500 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Elevated urinary delta-aminolevulinic acid, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Respiratory insufficiency, Cardiomyopathy, Waddling gait, Hypoventilation... |
OMIM:310200 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly |
OMIM:615947 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly, Coma, Hepatic steatosis, Elevated hepatic transaminase, Arrhythmia, L... |
OMIM:255120 |
Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lethargy, Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Ureteral duplicat... |
OMIM:608836 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Sinus bradycardia, Palpitations, Atrioventricular block, Loss of ability to walk, Diffic... |
OMIM:616812 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... |
OMIM:619662 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Death in infancy, Respiratory insufficiency, Congestive heart failure, Arrhythmia |
ORPHA:157973 |
Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Dystonia, Difficulty walking, Congestive heart failure |
ORPHA:324588 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Pulmonary insufficiency, Hepatomegaly, Death in infancy, Ascites, Restrictive cardiomyopathy, Tri... |
OMIM:619433 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, Short chordae tendineae of th... |
OMIM:314400 |
Hemorrhagic Fever-Renal Syndrome |
|
Petechiae, Melena, Pulmonary edema, Respiratory failure, Capillary leak, Ecchymosis, Hypertension... |
ORPHA:340 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosi... |
OMIM:616649 |
Galactosemia Iii |
|
Hepatomegaly, Hypergalactosemia, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice |
OMIM:230350 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Abnormal cardiac septum morphology, Bundle branch block |
ORPHA:1479 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
Mogs-Cdg |
|
Dystonia, Hepatomegaly, Edema, Apnea, Cardiomegaly, Polyhydramnios, Left ventricular hypertrophy,... |
ORPHA:79330 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Hypertension, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Le... |
OMIM:605711 |
Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Gait disturbance, Ventricular escape rhythm, Atrioventricular block,... |
ORPHA:98863 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Hepatomegaly, Cardiomyopathy, Pancreatitis, Splenomegaly, Respiratory distress, Coma, D... |
ORPHA:79312 |
Kearns-Sayre Syndrome |
|
Ataxia, Third degree atrioventricular block |
ORPHA:480 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia, Patent ductus arteriosus, Varicose veins, Pedal ede... |
OMIM:126320 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Hypoxemia, Confusion, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respirat... |
ORPHA:36238 |
Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
Hemochromatosis Type 2 |
|
Dilated cardiomyopathy, Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis... |
ORPHA:79230 |
Gitelman Syndrome |
|
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Pericardial effusion, Palpitat... |
ORPHA:358 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
Necrotizing Enterocolitis |
|
Shock, Ascites, Peritonitis, Abnormal heart morphology, Edema, Apnea, Bradycardia, Hypotension, L... |
ORPHA:391673 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Death in infancy, Truncus arteriosus, Tricusp... |
OMIM:617478 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Hypertension, Ventricular septal defect, Intracranial hemorrhage, Ventricular hypertro... |
ORPHA:369929 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Respiratory arrest, Hepatomegaly, Death in infancy, Hepatocellular n... |
OMIM:201475 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hypertension, Left ventricular hypertrophy, Congestive heart failure, Wolff-Parkinson-White syndr... |
OMIM:540000 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dilated cardiomyopathy, Dystonia, Congestive heart failure |
OMIM:606703 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Hepatomegaly, Nonimmune hydrops fetalis, Respiratory insufficiency, Ascit... |
ORPHA:367 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... |
ORPHA:882 |
Naxos Disease |
|
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... |
ORPHA:34217 |
Aapoaiv Amyloidosis |
|
Hypertrophic cardiomyopathy, Hypertension, Cardiac amyloidosis, Abnormal cardiac ventricular func... |
ORPHA:439232 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau... |
ORPHA:247598 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Truncus arteriosus, Tachypnea, Double outlet right ventricle, Coarctat... |
ORPHA:3426 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Mitral regurgitation, Cardiomyopathy, Tricuspid regurgitation, Left ve... |
ORPHA:746 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly, Decreased liver function, Exertional dyspnea, Ataxia, Coma, Loss of c... |
ORPHA:42 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Persistent left s... |
ORPHA:1457 |
Congenital Fibrinogen Deficiency |
|
Splenic rupture, Gingival bleeding, Right ventricular hypertrophy, Prolonged prothrombin time, Ta... |
ORPHA:335 |
Mitochondrial Trifunctional Protein Deficiency |
|
Dilated cardiomyopathy, Respiratory insufficiency, Elevated hepatic transaminase, Elevated circul... |
OMIM:609015 |
Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Hypersplenism, Conjug... |
ORPHA:480520 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertension, Premature coronary artery atherosclerosis, Myocardial infarction, Hepatic steatosis... |
OMIM:615703 |
Fabry Disease |
|
Transient ischemic attack, Emphysema, Lymphedema, Hypertrophic cardiomyopathy, Hypertension, Abno... |
ORPHA:324 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... |
ORPHA:99094 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys... |
OMIM:266200 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Recurrent urinary tract infections, Autoimmune hemol... |
OMIM:618495 |
Capillary Malformation-Arteriovenous Malformation |
|
Lymphedema, Telangiectasia, Arteriovenous fistula, Nonimmune hydrops fetalis, Vascular skin abnor... |
ORPHA:137667 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Respiratory insuff... |
OMIM:255160 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
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Giant cell hepatitis, Nephrocalcinosis, Right ventricular hypertrophy, Renal tubular acidosis, Ch... |
OMIM:613404 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Glycine Encephalopathy |
|
Aggressive behavior, Hyperglycinemia, Hyperactivity, Irritability, Hyperglycinuria, Impulsivity, ... |
OMIM:605899 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Syncope, Hepatomegaly, Drowsiness, Palpitations, Tachycardia, Loss of consciousness, Hypoglycemic... |
ORPHA:324575 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Tachypnea... |
OMIM:265120 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Sinusitis, Gait disturbance, Respiratory ... |
ORPHA:183 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Congestive heart failure, Polyhydramnios |
OMIM:616794 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Cholestasis, Hyperbilirubinemia |
OMIM:609734 |
Caroli Disease |
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Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... |
ORPHA:53035 |
Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Hyperbi... |
ORPHA:288 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Respiratory insufficiency, Cardiomyopathy, Pancreatitis, Ataxia, Coma, Dehydration,... |
ORPHA:27 |
Familial Cutaneous Collagenoma |
|
Congestive heart failure, Atrial septal defect, Cardiomyopathy, Angina pectoris |
ORPHA:53296 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hepatomegaly, Hyponatremia, Hypoproteinemia, Pancytopenia, Leukopenia, Lymphadenopathy, Anemia, I... |
OMIM:603553 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Pulmonary insufficiency, Mitral regurgitation, Double outlet right ventri... |
ORPHA:2326 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Hepatomegaly, Respiratory insufficiency, Sudden episodic apnea, Ventricular tachycardia... |
ORPHA:159 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Paroxysmal dyspnea, Stridor, Right ventricular hypertrophy, Left ven... |
ORPHA:444013 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Respiratory insufficiency, Atrial septal defect, Respiratory failure, ... |
OMIM:253300 |
Mulibrey Nanism |
|
Hepatomegaly, Pericardial constriction, Ascites, Cardiomegaly, Recurrent lower respiratory tract ... |
OMIM:253250 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Membran... |
ORPHA:400 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Elevated circulating creatinine concentration, Hepatic cysts, Decreased glomeru... |
ORPHA:730 |
Cyclic Vomiting Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Cardiomyopathy, Lethargy |
OMIM:500007 |
Atrial Fibrillation, Familial, 10 |
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Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... |
OMIM:614022 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly, Abse... |
OMIM:259720 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Hepatic calcification, Pericardial effusion, Pulmonary edema, Congestive ... |
ORPHA:73224 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Abnormal cardiac ventricular function, Hepatomegaly, Cardiomyopathy, Ataxia, Hepatic failure, Ele... |
ORPHA:2394 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Leukopenia,... |
OMIM:617303 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Respiratory insufficiency, Respiratory insufficiency d... |
ORPHA:308552 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Syncope, Right ventricular dilatation, Abnormal T-wave, Palpitations, ... |
ORPHA:70591 |
Hydrops Fetalis, Nonimmune |
|
Nonimmune hydrops fetalis, Congestive heart failure, Hydrops fetalis |
OMIM:236750 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type |
|
Atrioventricular block, Neonatal inspiratory stridor, Abnormal atrioventricular conduction |
OMIM:118230 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
American Trypanosomiasis |
|
Myocarditis, Hepatomegaly, Edema, Cardiomyopathy, Cough, Splenomegaly, Congestive heart failure, ... |
ORPHA:3386 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Oligohydramnios, Congestive heart failu... |
ORPHA:163596 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Right ventricular failure, Paroxysmal dyspnea, Mitral atresia, Single ventricle, Low-output conge... |
ORPHA:99125 |
Sickle Cell Anemia |
|
Abnormality of the spleen, Leukocytosis, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... |
OMIM:607616 |
Congenital Tracheomalacia |
|
Wheezing, Neonatal respiratory distress, Single ventricle, Apnea, Patent ductus arteriosus, Decre... |
ORPHA:95430 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Cardio... |
OMIM:232300 |
Dk1-Cdg |
|
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Congestive hear... |
ORPHA:91131 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Ataxia, Hepatic failure, Gait ataxia |
OMIM:616719 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Ovarian Hyperstimulation Syndrome |
|
Ascites, Pulmonary edema, Hypovolemia, Peripheral edema, Pleural effusion, Generalized edema, Cap... |
ORPHA:64739 |
Ogden Syndrome |
|
Ventricular septal defect, Torticollis, Shuffling gait, Excessive daytime somnolence, Cardiogenic... |
ORPHA:276432 |
Hereditary Spherocytosis |
|
Hepatomegaly, Anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Ataxia, Extramedullary he... |
ORPHA:822 |
Hyperprolinemia, Type I |
|
Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperprolinemia, Hyperactivity, Ataxia, Hyper... |
OMIM:239500 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice |
OMIM:605479 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Mitral valve prolapse, Double out... |
ORPHA:371428 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Gait disturbance, Ataxia, Cong... |
ORPHA:1349 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Drowsiness, Tachycardia, Pancreatic islet-cell hyperplasia, Coma, Lethargy |
ORPHA:276608 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Hyponatremia, Neutropenia, Ascites, Iron deficiency anemia, Chronic kidney disease,... |
ORPHA:1667 |
Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Neonatal death, Apnea, Erythema, Bradycardia, Recurrent respirator... |
OMIM:610015 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Dystonia, Hepatomegaly, Respiratory insufficiency, Ataxia, Lethargy |
OMIM:618224 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mitral valve prolapse, Mitral regurgitation, Steppage gait, Cardiomegaly, Tricuspid regurgitation... |
ORPHA:324410 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... |
OMIM:616828 |
Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Hepatomegaly, Hyperactivity, Ataxia, Hypertriglyceridemia |
OMIM:615924 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Aplasia/Hypoplasia of the lungs, Death in infancy, Respiratory insufficien... |
ORPHA:1120 |
Transaldolase Deficiency |
|
Telangiectasia, Biventricular hypertrophy, Abnormal respiratory system physiology, Edema, Coarcta... |
ORPHA:101028 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Persistent left sup... |
OMIM:618775 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Bradycardia, Atrial fibrillation |
OMIM:614302 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:607941 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... |
ORPHA:567983 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Increased total bilirubin, Hyperuricemia, Exercise-induced myoglobinuria, Reticul... |
OMIM:232800 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Stomatocytosis, Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Elliptocytosi... |
OMIM:109270 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Elevated jugular venous pressure, Car... |
ORPHA:465508 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria |
OMIM:105200 |
Immune-Mediated Necrotizing Myopathy |
|
Myocarditis, Palpitations, Raynaud phenomenon, Abnormal pulmonary interstitial morphology, Conges... |
ORPHA:206569 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Elevated hepatic transaminase, Edema, Patent ductus arteriosus, Lethargy |
OMIM:610498 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Tachypnea, Coarctation of aorta, Pulmonary arterial hypertension, Atrial septal defect, Lethargy |
OMIM:614857 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... |
OMIM:163800 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Bronchial Neuroendocrine Tumor |
|
Right ventricular failure, Facial telangiectasia, Wheezing, Abnormal pulmonary valve cusp morphol... |
ORPHA:97287 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time, Cardiomyopathy, Jaundice, Acute hepatic failure, Elevated hepatic tra... |
OMIM:616483 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Respi... |
ORPHA:70 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Hemoglobinuria, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehy... |
OMIM:300908 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... |
OMIM:616749 |
Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly |
ORPHA:90037 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Torticollis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
Aicardi-Goutieres Syndrome 7 |
|
Dystonia, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Irritability, Thrombocytopenia |
OMIM:615846 |
Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Hyperphenylalaninemia, Increased level of hippuric acid in ... |
OMIM:261600 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy, Gait imbalance, Lethargy |
OMIM:618120 |
Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... |
ORPHA:731 |
Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Angiokeratoma corporis diffusum, Death in in... |
OMIM:230500 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Prolonged QT interval, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Hydrops fetalis |
OMIM:618052 |
Lyme Disease |
|
Joint swelling, Atrioventricular block, Arrhythmia |
ORPHA:91546 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Death in infancy, Apnea, Bradycardia |
OMIM:614498 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... |
OMIM:608758 |
Hellp Syndrome |
|
Cerebral hemorrhage, Prolonged prothrombin time, Generalized edema, Pulmonary edema, Poor wound h... |
ORPHA:244242 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Gait disturbance, Arrhythmia, Cardiomyopathy, Bradycardia |
OMIM:609286 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Hypoxemia, Neonatal respiratory distress, Palpitations, Abnormal heart mor... |
ORPHA:2847 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... |
ORPHA:90065 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Central apnea, Ataxia, Cyanosis, Confusion, Lethargy |
ORPHA:71277 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormality of the intrahepatic bile duct, Hypertension, Intracranial hemorrhage, Mitral regurgit... |
ORPHA:363618 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Abnormal mitral valve m... |
ORPHA:1461 |
Steinert Myotonic Dystrophy |
|
Dilated cardiomyopathy, Gait disturbance, Atrial fibrillation, Respiratory insufficiency, Cardiac... |
ORPHA:273 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Hyperammonemia, Cirrhosis, Splen... |
OMIM:271500 |
Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Mitral valve calcification, Pleural thickening, Exertional dyspnea, Re... |
ORPHA:60025 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Crackles, Facial edema, Excessive bleeding after a venipuncture, Cerebral edema, Gen... |
ORPHA:319213 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Pancreatitis, Coma, Dehydration, Lethargy |
OMIM:251000 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... |
OMIM:616217 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Nephrocalcinosis, Right ventricular hypertrophy, Renal tubular acidosis, Ch... |
OMIM:208085 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... |
OMIM:617912 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Dystonia, Hepatomegaly, Mitral regurgitation, Neonatal death, Left ventri... |
OMIM:619167 |
Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... |
OMIM:602088 |
Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... |
OMIM:208530 |
Evans Syndrome |
|
Lethargy, Syncope, Petechiae, Epistaxis, Dyspnea, Bruising susceptibility, Jaundice |
ORPHA:1959 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Orthostatic hypotension, Atrioventricular block, Central hypoventilation, Abnormal atrioventricul... |
OMIM:118301 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Congestive heart failure |
OMIM:616045 |
Primary Pulmonary Hypoplasia |
|
Dextrocardia, Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumot... |
ORPHA:2257 |
Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy, Ataxia, Congestive heart failure, Arrhythmia |
OMIM:266500 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Kearns-Sayre Syndrome |
|
Ataxia, Third degree atrioventricular block, Arrhythmia, Cardiomyopathy |
OMIM:530000 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
Intrahepatic Cholestasis Of Pregnancy |
|
Ascites, Hyperbilirubinemia, Abnormality of the pancreas, Increased serum bile acid concentration... |
ORPHA:69665 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Death in infancy, Abnormal mitral valve morphology, Abnormal tricuspid... |
ORPHA:1354 |
Immunodeficiency 87 And Autoimmunity |
|
Dilated cardiomyopathy, Hypertension, Third degree atrioventricular block, Hepatomegaly, Biventri... |
OMIM:619573 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Biventricular hypertrophy, Atrial fibrillation, ST segment ... |
OMIM:613243 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Fabry Disease |
|
Lymphedema, Hypertension, Ventricular septal hypertrophy, Left ventricular hypertrophy, Myocardia... |
OMIM:301500 |
Scrub Typhus |
|
Myocarditis, Cough, Splenomegaly, Abnormal bleeding, Reduced consciousness/confusion, Restrictive... |
ORPHA:83317 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Po... |
OMIM:615234 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation, Intestinal bleeding |
OMIM:600195 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... |
OMIM:603552 |
Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Lung abscess, Cough, Pleural empyema, Congestive heart failure, Elevat... |
ORPHA:67 |
Cholesterol Pneumonia |
|
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis |
OMIM:215030 |
Indomethacin Embryofetopathy |
|