Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Sitosterolemia 2 |
|
Premature coronary artery atherosclerosis, Elevated circulating sitosterol concentration, Hyperch... |
OMIM:618666 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... |
OMIM:619855 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Brugada Syndrome 9 |
|
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Atherosclerosis, Hypercholesterol... |
OMIM:603813 |
Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypertriglyceridemia, Elevated ... |
OMIM:232700 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis |
OMIM:604091 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Type IV atherosclerotic lesion, Increased LDL cholesterol concentration, Hy... |
OMIM:144300 |
Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Brugada Syndrome 7 |
|
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency |
OMIM:614278 |
Preimplantation Embryonic Lethality 2 |
|
Infertility |
OMIM:617234 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... |
OMIM:616829 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Premature coronary artery atherosclerosis, Decreased circulating apolipoprotein AI concentration,... |
OMIM:620058 |
Brugada Syndrome 5 |
|
Bundle branch block, ST segment elevation, Ventricular fibrillation |
OMIM:612838 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic stea... |
OMIM:614480 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Hydatidiform Mole, Recurrent, 3 |
|
Infertility |
OMIM:618431 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated gamma-gluta... |
OMIM:619868 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Gait disturbance, Ataxia, Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:619175 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... |
OMIM:605814 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
Adrenal Hypoplasia, Cytomegalic Type |
|
Primary adrenal insufficiency, Congenital adrenal hypoplasia |
OMIM:202155 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Premature coronary artery atherosclerosis, Increased LDL cholesterol concentration, ... |
OMIM:615703 |
Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Arrhythmia, Bradycardia |
OMIM:614302 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Hypercholestero... |
OMIM:301033 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... |
OMIM:616201 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:615234 |
Hypercholesterolemia, Familial, 2 |
|
Coronary artery atherosclerosis, Xanthelasma, Increased LDL cholesterol concentration, Hyperchole... |
OMIM:144010 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Precocious atherosclerosis |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Precocious atherosclerosis |
OMIM:144600 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... |
OMIM:613980 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave |
OMIM:614049 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hyperuricemia, Hypercholestero... |
OMIM:306000 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... |
ORPHA:66529 |
Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemia, Jaundice |
ORPHA:75234 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis |
OMIM:618463 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... |
OMIM:616828 |
Atrial Fibrillation, Familial, 3 |
|
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... |
OMIM:607554 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... |
OMIM:617222 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... |
ORPHA:263297 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... |
OMIM:614022 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... |
OMIM:610476 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... |
OMIM:612347 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... |
OMIM:610717 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Ventricular fibrillation, Syncope |
OMIM:603829 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... |
OMIM:163800 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein... |
OMIM:619662 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
Atrial Fibrillation, Familial, 15 |
|
Atrial fibrillation, Supraventricular tachycardia, Atrial flutter, Sudden cardiac death |
OMIM:615770 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... |
OMIM:615558 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... |
OMIM:601494 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Female infertility |
OMIM:617442 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Foam cells |
OMIM:245900 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... |
OMIM:614916 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Elevated gamma-glutamyltransferase le... |
OMIM:603471 |
Atrial Standstill 2 |
|
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Cardiom... |
OMIM:615745 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hepat... |
OMIM:612526 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... |
OMIM:207750 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypothyroidism |
OMIM:262700 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cirrhosis,... |
OMIM:214900 |
Atrial Fibrillation, Familial, 4 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... |
OMIM:611493 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Increased LDL cholesterol concentration, Decreased acid sphingomyelinase activity, ... |
OMIM:607616 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... |
OMIM:108770 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Paroxysmal atrial fibrillation, Ventricular tachycardia, Hypertrophic cardi... |
OMIM:612124 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Decreased mean corpuscular volume, Increased circulating ferritin concentr... |
ORPHA:300298 |
Adrenocortical Hypofunction, Chronic Primary Congenital |
|
Decreased circulating cortisol level, Adrenal insufficiency |
OMIM:103230 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... |
OMIM:608751 |
Left Ventricular Noncompaction 8 |
|
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... |
OMIM:615373 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decreased HDL cholesterol conce... |
OMIM:618620 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... |
OMIM:608758 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Anisocytosis, Increased RBC distribution width, Schistocytosis, ... |
OMIM:613673 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure |
OMIM:192600 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoplasia of penis, Diabetes mellitus, Hypogonadism, Hypercholesterol... |
ORPHA:181393 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... |
ORPHA:99103 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Apolipoprotein A-I Deficiency |
|
Premature coronary artery atherosclerosis, Abnormal circulating lipid concentration, Decreased HD... |
ORPHA:425 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... |
OMIM:613251 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... |
OMIM:614954 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... |
ORPHA:75565 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig... |
ORPHA:209902 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Sudden cardiac death, Palpitations, Syncope, Ventricular tachycardia, A... |
OMIM:613838 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatomegaly, Jaundice |
OMIM:603552 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomicron concentra... |
OMIM:238600 |
Premature Ovarian Failure 6 |
|
Female infertility, Streak ovary, Primary amenorrhea, Secondary amenorrhea, Premature ovarian ins... |
OMIM:612310 |
Brugada Syndrome 4 |
|
Atrial fibrillation, Shortened QT interval, Syncope |
OMIM:611876 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Elevated hepat... |
OMIM:613027 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Hepatocellular carcinoma, Sclerosing cholangitis, Elevated... |
ORPHA:69663 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618815 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia |
ORPHA:542306 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia |
OMIM:617885 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
ST segment depression, Cerebral hemorrhage, Cerebral ischemia, Syncope, Prolonged QTc interval, M... |
ORPHA:90065 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess |
OMIM:613743 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... |
OMIM:115000 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... |
OMIM:108950 |
Lcat Deficiency |
|
Premature coronary artery atherosclerosis, Decreased circulating apolipoprotein AI concentration,... |
ORPHA:650 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... |
OMIM:601493 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Arrhythmia |
OMIM:310095 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... |
OMIM:615631 |
Dysbetalipoproteinemia |
|
Peripheral arterial stenosis, Premature coronary artery atherosclerosis, Increased LDL cholestero... |
ORPHA:412 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Unconjugated hyperbilirubinemia, Hepatic failure |
OMIM:143500 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Dilatation of the cerebral artery, Atherosclerosis |
ORPHA:91135 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Chronic hemolytic anemia, Elevat... |
OMIM:210250 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Bradycardia, Congestive heart failure |
OMIM:619048 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block |
OMIM:615616 |
Recessive Mitochondrial Ataxia Syndrome |
|
ST segment elevation |
ORPHA:94125 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Stroke, Coronary artery stenosis, Hypercholesterolemia |
OMIM:615812 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatitis, Hepatomegaly |
OMIM:300635 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coronary artery atheroscler... |
OMIM:132900 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level, Hepatic steatosis, Hepatomegaly |
OMIM:615238 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia |
OMIM:617248 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... |
OMIM:611777 |
Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Atherosclerosis |
ORPHA:79292 |
Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... |
ORPHA:330001 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... |
OMIM:237800 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... |
OMIM:612098 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Adrenal overactivity, Premature pubarche, Increased circulating androgen concentration |
OMIM:145295 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly, Hepatic steatosis |
ORPHA:79085 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
OMIM:300200 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Hypermethioni... |
ORPHA:247598 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Cardiac arrest, Cardiomy... |
OMIM:212138 |
Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... |
OMIM:113900 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Increased level of galactit... |
ORPHA:79237 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Atrial arrhythmia, Sudden cardiac death, Palpitations, Absent P wave, Atrioventricular block, Fir... |
OMIM:310300 |
Hypercholesterolemia, Familial, 1 |
|
Coronary artery atherosclerosis, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:143890 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
Cog4-Cdg |
|
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Elevated ... |
ORPHA:263501 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:613101 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbuminemia, Hepatic... |
OMIM:619013 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:608600 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation |
ORPHA:90647 |
Timothy Syndrome |
|
Prolonged QT interval, Bradycardia |
OMIM:601005 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Schistocytosis, ... |
OMIM:224120 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... |
ORPHA:158061 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... |
OMIM:607685 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure |
OMIM:261740 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production, Impotence, Decreased fertility in males, Central adrenal insuffi... |
ORPHA:91349 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction |
OMIM:612956 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Attrv122I Amyloidosis |
|
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia... |
ORPHA:85451 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Adrenal insufficiency, Central adrenal insufficiency, Delayed puberty, Hypogonadism |
OMIM:612079 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol co... |
ORPHA:247585 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... |
OMIM:600649 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Lymphopenia, Micropenis, Hypothyroidism, Hypertriglyceridemia, Hypoalbumin... |
OMIM:617575 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepati... |
OMIM:232400 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Decreased circulating cortisol level, Ovarian cyst, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Premature ventricular contraction, Syncope |
OMIM:192445 |
Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation |
OMIM:264110 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Arrhythmia, Cardiomyopathy |
OMIM:612999 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Hepatic failure, Cirrhosis, ... |
OMIM:607765 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... |
OMIM:617047 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... |
OMIM:262600 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Adrenal insufficiency |
OMIM:619025 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly, Hepatic steatosis |
ORPHA:435651 |
Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... |
ORPHA:217607 |
Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... |
OMIM:615947 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cholestasis, Conjugated hyperbilirubinemia, Jaund... |
OMIM:620010 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Bradycardia |
OMIM:614407 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Angina pectoris, Palpitations, Ventricular tachycardia, Atrial fibrillation, Hypertrophic cardiom... |
OMIM:613873 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... |
ORPHA:369 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Dilated cardiomyopathy, Atrial fibrillation, Hypertrophic cardiomyo... |
OMIM:612158 |
Hereditary Elliptocytosis |
|
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, ... |
ORPHA:288 |
Chylomicron Retention Disease |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level, Oligomeno... |
ORPHA:528 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... |
OMIM:604169 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:615381 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Steatorrh... |
OMIM:613812 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Cirrhosis, Elevated circulating creatine kinase ... |
ORPHA:370 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Increased serum bile acid concentration during pregnancy, Elevated hepatic transaminase, Intrahep... |
OMIM:147480 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Dilated card... |
OMIM:602390 |
Pparg-Related Familial Partial Lipodystrophy |
|
Prominent veins on trunk, Dysmenorrhea, Oligomenorrhea, Primary amenorrhea, Hypertriglyceridemia,... |
ORPHA:79083 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Hepatomegaly, Splenomegaly, Gait ataxia, Hepatic fibrosis |
OMIM:616719 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated circulating alkaline phosphatase concentration, Hepatomegaly, Hyperbilirubinemia, Hepati... |
OMIM:235555 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Increased circulating renin level,... |
OMIM:177735 |
Extracranial Carotid Artery Aneurysm |
|
Stroke, Subarachnoid hemorrhage, Vasculitis, Total anomalous pulmonary venous return, Atheroscler... |
ORPHA:494424 |
Laron Syndrome |
|
Abnormality of the endocrine system, Hypoplasia of penis, Hypohidrosis, Delayed puberty, Hypercho... |
ORPHA:633 |
Coronary Arterial Fistula |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... |
ORPHA:2041 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic ... |
ORPHA:2088 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated tra... |
OMIM:613313 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Splenomegaly, Hemolytic anemia, Choreoathetosis, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous... |
OMIM:271500 |
Sea-Blue Histiocyte Disease |
|
Foam cells |
OMIM:269600 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Palpitations, Sinus bradycardia, Second degree atrioventricular block, Syncope |
OMIM:616812 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... |
OMIM:618963 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Elevated circulating aspar... |
OMIM:619658 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... |
OMIM:610600 |
Wolman Disease |
|
Adrenal insufficiency, Splenomegaly, Adrenal calcification, Steatorrhea, Anemia, Bone-marrow foam... |
ORPHA:75233 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Cardiomyopathy, Bradycardia |
OMIM:609286 |
Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Hepatic ... |
OMIM:604367 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Abnormality of the thyroid gland, Hypothyroidism, Hyperurice... |
ORPHA:77296 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Transient hyper... |
OMIM:255120 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... |
OMIM:601775 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceri... |
ORPHA:435660 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|