Cardiomyopathy, Dilated, 1Cc |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:613122 |
Cardiomyopathy, Dilated, 1W |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:615235 |
Cardiomyopathy, Dilated, 2A |
|
Cardiomyocyte hypertrophy, Myofiber disarray, Congestive heart failure, Increased left ventricula... |
OMIM:611880 |
Cardiomyopathy, Dilated, 1M |
|
Reduced left ventricular ejection fraction, Impaired myocardial contractility, Congestive heart f... |
OMIM:607482 |
Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613252 |
Cardiomyopathy, Dilated, 1Hh |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy |
OMIM:613881 |
Cardiomyopathy, Dilated, 1Ff |
|
Increased left ventricular end-diastolic volume, Severely reduced left ventricular ejection fract... |
OMIM:613286 |
Cardiomyopathy, Dilated, 1Dd |
|
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia |
OMIM:609909 |
Cardiomyopathy, Dilated, 1L |
|
Reduced left ventricular ejection fraction, Sudden cardiac death, Reduced systolic function, Cong... |
OMIM:606685 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... |
OMIM:604765 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy |
OMIM:616500 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Cardiomyopathy, Dilated, 1K |
|
Gallop rhythm, Congestive heart failure, Dilated cardiomyopathy |
OMIM:605582 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy |
ORPHA:217622 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... |
OMIM:615396 |
Cardiomyopathy, Dilated, 3B |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:302045 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
ORPHA:34587 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy, Neoplasm of the heart |
ORPHA:3283 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Ventricular ... |
OMIM:600884 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Congestive he... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... |
OMIM:613642 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Barth Syndrome |
|
Endocardial fibroelastosis, Dilated cardiomyopathy |
ORPHA:111 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... |
OMIM:612877 |
Cardiomyopathy, Dilated, 2B |
|
Congestive heart failure, Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular e... |
OMIM:614672 |
Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... |
OMIM:613694 |
Cardiomyopathy, Dilated, 1Kk |
|
Mitral regurgitation, Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopa... |
OMIM:615248 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... |
OMIM:612158 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... |
ORPHA:168796 |
Cardiomyopathy, Dilated, 1O |
|
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... |
OMIM:608569 |
Congenital Heart Defects, Multiple Types, 5 |
|
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... |
OMIM:617912 |
Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:618189 |
Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:611615 |
Cardiomyopathy, Dilated, 1Oo |
|
Reduced left ventricular ejection fraction, Atrial septal defect, Second degree atrioventricular ... |
OMIM:620247 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a... |
OMIM:613697 |
Cardiomyopathy, Dilated, 2D |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Mitral regurgitation, Reduced lef... |
OMIM:619371 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Ventricular a... |
OMIM:602087 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Ventricular a... |
OMIM:602086 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Cardiomyopathy, Dilated, 1G |
|
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... |
OMIM:604145 |
Cardiomyopathy, Dilated, 1Ii |
|
Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejection fract... |
OMIM:615184 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Cardiomyocyte hypertrophy, Pulmonary arterial hypertension, Apical hypertrophic cardiomyopathy, L... |
OMIM:613255 |
Cardiomyopathy, Dilated, 2F |
|
Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Congestive heart fa... |
OMIM:619747 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy |
OMIM:610140 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... |
OMIM:615916 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Cardiomyopathy, Dilated, 2G |
|
Mitral regurgitation, Monomorphic ventricular tachycardia, Left atrial enlargement, Cerebral hemo... |
OMIM:619897 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Reduced left ventricular ejection fraction, Hypotension, Right atrial enlargement, Abnormal ST se... |
OMIM:612422 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Sudden cardiac death, Left atrial enlargement, Left ventricular hyper... |
OMIM:115210 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Hype... |
OMIM:613690 |
Cardiomyopathy, Dilated, 2E |
|
Reduced systolic function, Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy |
OMIM:619492 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... |
OMIM:604772 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Asymmetric septal hypertrophy, Concentric hypertrophic cardiomyopathy, Left atrial enlargement, R... |
OMIM:619402 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Thi... |
OMIM:601419 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
ORPHA:154 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy |
OMIM:607487 |
Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... |
OMIM:601494 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:616198 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy |
ORPHA:79281 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Congenital Heart Defects, Multiple Types, 6 |
|
Secundum atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Total anomalous pulm... |
OMIM:613854 |
Cardiomyopathy, Dilated, 1E |
|
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... |
OMIM:601154 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis |
OMIM:192600 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Dilated cardiomyopathy |
OMIM:619903 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Cardiomyopathy, Dilated, 1Y |
|
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Ebs... |
OMIM:611878 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left ventricular ejection fraction, Lef... |
OMIM:613876 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycardia, Dilated cardiomyopathy |
OMIM:605676 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy |
OMIM:212130 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Dilated cardiomyopathy |
OMIM:604286 |
Glycogen Storage Disease 0, Muscle |
|
Cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy |
OMIM:611556 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
Cardiomyopathy, Dilated, 1A |
|
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Left atrial enlargement, Biv... |
OMIM:619424 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Whim Syndrome 2 |
|
Chronic neutropenia, Tetralogy of Fallot |
OMIM:619407 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Asymmetric septal hypertrophy, Cardiomyocyte hypertrophy, Mitral regurgitation, Increased myocard... |
OMIM:620236 |
Atrial Standstill 1 |
|
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... |
OMIM:108770 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Myofiber disarray, Hypertrophic cardiomyopathy, Mitral valve prolap... |
OMIM:614676 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Left atrial enlarge... |
OMIM:617047 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Sudden cardiac death, Reduced left ventr... |
OMIM:612124 |
Right Atrial Isomerism |
|
Situs inversus totalis, Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Tetralogy of ... |
OMIM:208530 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
Ventricular Tachycardia, Familial |
|
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:324588 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Reduced systolic function, Dilated cardiomyopathy |
OMIM:616827 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy |
OMIM:608099 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Dilated cardiomyopathy |
OMIM:612937 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy |
OMIM:300580 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Congestive heart failure, Dilated cardiomyopathy, Left ventricular hypertrophy |
ORPHA:206546 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy |
OMIM:300718 |
Dpm3-Cdg |
|
Dilated cardiomyopathy |
ORPHA:263494 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... |
ORPHA:300751 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Interstitial cardiac fibrosis, Left anterior fascicular block, Reduced left ventricular ejection ... |
OMIM:181350 |
Hemochromatosis, Type 2A |
|
Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy |
OMIM:602390 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial fibrillation, Left ventricula... |
OMIM:613874 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Left atrial enlargement, Left ventricular hypertrophy, Reduced left ventricular e... |
OMIM:608751 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Left ventricular systolic dysfunction, Right bundle branch block, Dilated cardiomyopathy |
ORPHA:206559 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Dilated cardiomyopathy |
ORPHA:34515 |
Immunodeficiency 110 With Lymphoproliferation |
|
Atrial septal defect, Lymphopenia, Neutropenia |
OMIM:614868 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:618815 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction... |
OMIM:613251 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Arrhythmia, Severely reduced left ventricular ejection fraction, Sudden cardiac death, Congestive... |
OMIM:611705 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Hypertrophic cardiomyopathy |
OMIM:609500 |
Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... |
OMIM:613426 |
Myopathy, Distal, 1 |
|
Dilated cardiomyopathy, Left atrial enlargement |
OMIM:160500 |
Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... |
OMIM:614429 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy |
OMIM:609016 |
Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Syncope, First degree atrioventricula... |
OMIM:115197 |
Isolated Right Ventricular Hypoplasia |
|
Systolic heart murmur, Atrial septal defect, Right ventricular failure, Abnormal atrioventricular... |
ORPHA:439 |
Specific Granule Deficiency 1 |
|
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... |
OMIM:245480 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Mitral regurgitation, Left atrial enlargement, Syncope, Pulmonary ... |
ORPHA:75249 |
Heterotaxy, Visceral, 12, Autosomal |
|
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Pulmonic stenosis, Ventricular sept... |
OMIM:619702 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic ... |
OMIM:614473 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Fourth heart sound, Right axis deviation, Sinus tachycardia, Elevated jugular venous pressure, Bi... |
OMIM:255160 |
Peripartum Cardiomyopathy |
|
Myocarditis, Reduced left ventricular ejection fraction, Abnormal atrioventricular valve morpholo... |
ORPHA:563 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... |
OMIM:613838 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Wolff-Parkinson-White syndrome, L... |
ORPHA:45453 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Cardiomyopathy, Arrhythmia |
OMIM:300376 |
Scimitar Syndrome |
|
Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrial sept... |
ORPHA:185 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy |
OMIM:600649 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Atrial septal defect, Sudden cardiac death, Congestive heart failur... |
OMIM:610198 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Systolic heart murmur, Pulmonic ... |
ORPHA:99095 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Left bundle branch bloc... |
OMIM:618920 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Premature ventricular contraction, Sudden cardiac death |
OMIM:604401 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Reduced left ventricula... |
OMIM:620152 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:252011 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
ORPHA:1349 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Reduced left ventricular ejection fraction, Atrial fibrillation, Angina pectoris, Hypertrophic ca... |
OMIM:115195 |
Hjv Or Hamp-Related Hemochromatosis |
|
Dilated cardiomyopathy |
ORPHA:79230 |
Danon Disease |
|
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely reduced left ventricul... |
OMIM:300257 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy |
OMIM:606703 |
Dk1-Cdg |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Arrhythmia, Congestive heart failure, D... |
ORPHA:91131 |
Sudden Cardiac Failure, Infantile |
|
Myocarditis, Bradycardia, Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:617222 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... |
OMIM:618052 |
Myopathy, Centronuclear, 5 |
|
Mitral regurgitation, Dilated cardiomyopathy |
OMIM:615959 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... |
OMIM:615616 |
Immunodeficiency 53 |
|
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617585 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hypertrophi... |
OMIM:613873 |
Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy |
OMIM:248360 |
Microphthalmia, Syndromic 9 |
|
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Patent d... |
OMIM:601186 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Reduced systolic function, Dilated cardiomyopathy |
OMIM:618805 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Mitral valve prolapse, Left ventricular systolic dysfunction, Dilated cardiomyopathy |
OMIM:145350 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Cardiomyopathy, Mitral regurgitation, Dilated cardiomyopathy, Telangiectasia of the skin |
OMIM:212112 |
Familial Cutaneous Collagenoma |
|
Cardiomyopathy, Angina pectoris, Congestive heart failure, Atrial septal defect |
ORPHA:53296 |
Loeffler Endocarditis |
|
Left ventricular diastolic dysfunction, Right bundle branch block, Mitral regurgitation, Left atr... |
ORPHA:75566 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Left ventricular hypertrophy, Palpitation... |
OMIM:608758 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Situs inversus totalis, Atrial situs ambiguous, Atrial septal defect, Ventricular septal defect, ... |
ORPHA:216694 |
Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Left atrial enlargement, Left ventricular hypertrophy, Tricuspid ... |
OMIM:614022 |
Naxos Disease |
|
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... |
OMIM:601214 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... |
OMIM:202700 |
Heterotaxy, Visceral, 1, X-Linked |
|
Single ventricle, Dextrocardia, Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, ... |
OMIM:306955 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Conductive hearing impairment, Protruding ear, Pulmonic stenos... |
ORPHA:1131 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy |
ORPHA:171442 |
Aortic Arch Interruption |
|
Left ventricular hypertrophy, Ventricular septal defect, Aortopulmonary window, Abnormal heart mo... |
ORPHA:2299 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Dilated cardiomyopathy |
OMIM:161800 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Polymorphic and polytopic ventricular extrasystoles, Left ventricular noncompaction cardiomyopath... |
OMIM:115000 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
Branchiootic Syndrome 1 |
|
Low-set ears, Cochlear malformation, Mixed hearing impairment, Branchial fistula, Cupped ear, Sen... |
OMIM:602588 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy |
OMIM:618120 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Syncope, Ventricular tachycardia, Dilated cardiomyopathy |
OMIM:615821 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Arrhythmia, Pulmonary embolism, Hypertension, Abnormal heart valve morphology, Congestive heart f... |
ORPHA:1345 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:231530 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... |
OMIM:604400 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Neutropenia, Acute myeloid leukemia |
OMIM:607847 |
Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Double inlet left ventricle, Atrial septal defect, Ventricular septal defect, Atrio... |
OMIM:270100 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Left ventricular hypertr... |
OMIM:612098 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... |
OMIM:613243 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Ischemic stroke, Hypertension, Dilated cardiomyopathy, Cerebral hemorrhage |
ORPHA:280679 |
Branchiogenic-Deafness Syndrome |
|
Abnormality of the middle ear ossicles, Mixed hearing impairment, Atresia of the external auditor... |
OMIM:609166 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Arrhythmia, Dilated cardiomyopathy |
OMIM:615084 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Mitral regurgitation, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Left v... |
OMIM:619167 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy |
ORPHA:272 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Dilated cardiomyopathy |
OMIM:255310 |
Arrhythmogenic right ventricular dysplasia, familial, 2 |
|
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia, Dilatation ... |
OMIM:600996 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... |
OMIM:600858 |
Verheij Syndrome |
|
Short neck, Ventricular septal defect, Branchial cyst, Truncus arteriosus, Coloboma |
OMIM:615583 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular failure, Unroofed coron... |
ORPHA:99104 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Dilated cardiomyopathy |
OMIM:602541 |
Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... |
ORPHA:57777 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Renovascular hypertension, Bicuspid aortic valve, Aortic regurgitation, Dilated cardiomyopathy |
ORPHA:401923 |
Laing Early-Onset Distal Myopathy |
|
Dilated cardiomyopathy |
ORPHA:59135 |
Polymyositis |
|
Vasculitis, Arrhythmia, Abnormal mitral valve morphology, Gastrointestinal hemorrhage, Congestive... |
ORPHA:732 |
Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the inner ear, Underdeveloped tragus, Abnorm... |
ORPHA:50815 |
Congenital Tricuspid Valve Dysplasia |
|
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Rig... |
ORPHA:555874 |
Atrial Standstill |
|
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... |
ORPHA:1344 |
Amyloidosis, Finnish Type |
|
Cardiomyopathy, Cardiac amyloidosis |
OMIM:105120 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:611126 |
Neutrophilic Dermatosis, Acute Febrile |
|
Small vessel vasculitis, Dilated cardiomyopathy |
OMIM:608068 |
Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Atrial fibrillation, Pulmonary arterial hypertension, Third heart sound,... |
ORPHA:99106 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect, Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia, Neutropenia |
OMIM:612527 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Endocardial fibroelastosis, Pericardial effusion, Right atrial enlarg... |
OMIM:619313 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy |
OMIM:310200 |
Congenital Tracheomalacia |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Abnormal hear... |
ORPHA:95430 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Syncope, Palpitations, Elevated jugular venous pressure, Tricusp... |
ORPHA:422 |
Atrial Septal Defect, Ostium Secundum Type |
|
Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri... |
ORPHA:99103 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Arrhythmia, Dilated cardiomyopathy |
ORPHA:352447 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Barth Syndrome |
|
Arrhythmia, Tricuspid regurgitation, Congestive heart failure, Dilated cardiomyopathy, Hypertroph... |
OMIM:302060 |
Neonatal Lupus Erythematosus |
|
Abnormal electrophysiology of sinoatrial node origin, Heart block, Arrhythmia, Abnormal heart mor... |
ORPHA:398124 |
Familial Dilated Cardiomyopathy |
|
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... |
ORPHA:217607 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy |
ORPHA:254857 |
Propionic Acidemia |
|
Arrhythmia, Cardiomyopathy |
ORPHA:35 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:614299 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... |
ORPHA:85451 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Palpitations... |
ORPHA:1677 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cardiomyopathy, Global systolic dysfunction |
OMIM:606842 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Cardiomyopathy |
OMIM:608807 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly |
OMIM:208000 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular tachycardia, Tachycardia, Atrial septal defect, Ventricular septal defect, Arrhythmia... |
ORPHA:26793 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Ventricular tachycardia, Fibrofatty replacement of right ventricular myocardium, ... |
OMIM:609040 |
Coronary Arterial Fistula |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Atr... |
ORPHA:2041 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Pulmonic stenosis, Atrial septal defect, Ventricular septal defec... |
OMIM:619343 |
Attrv30M Amyloidosis |
|
Arrhythmia, Cardiomyopathy, Cardiomegaly, Atrioventricular block |
ORPHA:85447 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Abnormal left ventricular function, Dilated cardiomyopathy |
OMIM:607155 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Ventricular tachycardia, Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventri... |
OMIM:607450 |
Meckel Syndrome 14 |
|
Single ventricle |
OMIM:619879 |
Anemia, Sideroblastic, 5 |
|
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Increased nuchal translucency, Cystic hygroma, Atrial septal defect, Ventricular septal defect, A... |
ORPHA:453499 |
Branchiootic Syndrome 3 |
|
Branchial cyst, Sensorineural hearing impairment |
OMIM:608389 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Pulmonary insufficiency, Restrictive cardiomyopathy, Pulmonic stenosis, Tricuspid regurgitation |
OMIM:619433 |
Holoprosencephaly |
|
Encephalocele, Spinal dysraphism, Abnormal pulmonary valve morphology, External ear malformation,... |
ORPHA:2162 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopat... |
ORPHA:99901 |
Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Right atrial enlargement, Right ventricular h... |
OMIM:616028 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypertension, Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology |
OMIM:300845 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Ventricular tachycardia, Dilated cardiomyopathy, Ventricular fibrillation, Histio... |
OMIM:300952 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Palpitations, Atrial standstill, Cardiomyopathy, Absent P wave, Bradycardi... |
OMIM:615745 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated cardiomyopathy... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated cardiomyopathy... |
ORPHA:261 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Abnormal cardiomyocyte mor... |
ORPHA:367 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement, Bi... |
ORPHA:555877 |
Cardiac Valvular Dysplasia 1 |
|
Mitral stenosis, Hypoplasia of right ventricle, Double inlet left ventricle, Pulmonic stenosis, A... |
OMIM:212093 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Mitral regurgitation, Aortic regurgitation, Pulmonary insufficiency, Double outlet right ventricl... |
ORPHA:2326 |
Branchiootorenal Syndrome 1 |
|
Dilatated internal auditory canal, Conductive hearing impairment, Incomplete partition of the coc... |
OMIM:113650 |
Gm1-Gangliosidosis, Type I |
|
Congestive heart failure, Abnormal heart valve morphology, Dilated cardiomyopathy, Hypertrophic c... |
OMIM:230500 |
Andersen-Tawil Syndrome |
|
Prolonged QTc interval, Polymorphic and polytopic ventricular extrasystoles, Abnormal T-wave, Tor... |
ORPHA:37553 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Macrotia |
OMIM:600776 |
Bor Syndrome |
|
External ear malformation, Abnormality of the middle ear ossicles, Atresia of the external audito... |
ORPHA:107 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Endocardial fibroelastosis, Mitral regurgitation |
OMIM:226100 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated cardiomyopathy... |
ORPHA:98855 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Sensorineural hearing impairment, Protruding ear |
ORPHA:435938 |
Mcleod Syndrome |
|
Cardiomyopathy, Atrial fibrillation, Dilated cardiomyopathy |
OMIM:300842 |
Branchiootic Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Branchial fistula, Hearing... |
ORPHA:52429 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Arrhythmia, Cardiomyopathy |
OMIM:612999 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Abnormal cardiac septum morphology, Single ventricle |
OMIM:308050 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Arrhythmia, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609015 |
Naxos Disease |
|
Arrhythmia, Cardiomyopathy, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricula... |
ORPHA:34217 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Collagenoma, Familial Cutaneous |
|
Vasculitis, Right ventricular cardiomyopathy, Cardiomyopathy, Tricuspid regurgitation, Congestive... |
OMIM:115250 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Cardiomyopathy, Hypertension |
ORPHA:3222 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Atrial s... |
ORPHA:99125 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... |
OMIM:618773 |
Oligomeganephronia |
|
Secundum atrial septal defect, Hypertension, Hearing impairment, Branchial cyst, Optic disc coloboma |
ORPHA:2260 |
Hypoplastic Left Heart Syndrome 2 |
|
Mitral atresia, Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect |
OMIM:614435 |
Congenital Disorder Of Glycosylation, Type Im |
|
Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
Distal 22Q11.2 Microduplication Syndrome |
|
Low-set ears, Protruding ear, Ventricular septal defect, Abnormal helix morphology, Hydrocephalus... |
ORPHA:261337 |
Leigh Syndrome With Cardiomyopathy |
|
Mitral regurgitation, Pulmonic stenosis, Congestive heart failure, Cardiac conduction abnormality... |
ORPHA:70474 |
Congenital Disorder Of Glycosylation, Type It |
|
Pulmonary arterial hypertension, Ventricular septal defect, Aborted sudden cardiac death, Sudden ... |
OMIM:614921 |
Heart Block, Congenital |
|
Mitral regurgitation, Cardiomyopathy, Atrioventricular block, Myocardial fibrosis, Absent atriove... |
OMIM:234700 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Cardiomyocyte hypertrophy, Ventricular tachycardia, Arrhythmia, Palpitation... |
ORPHA:263297 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... |
OMIM:608203 |
Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Prolonged QT interval, Dilated cardiomyopathy |
ORPHA:66634 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Pulmonic stenosis, Atrial septal defect, Dilated cardiomyopathy, Myocardial fibrosis, Transpositi... |
OMIM:253800 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Dilated cardiomyopathy |
ORPHA:70595 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
ORPHA:71212 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Facial ede... |
OMIM:617300 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Increased nuchal translucency, Cystic hygroma, Conductive hearing impairment, Protruding ear, Atr... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Increased nuchal translucency, Cystic hygroma, Conductive hearing impairment, Protruding ear, Atr... |
ORPHA:352665 |
Ohdo Syndrome, Sbbys Variant |
|
Dilated cardiomyopathy |
OMIM:603736 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:618321 |
16Q24.3 Microdeletion Syndrome |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Cardiomyopathy, Hematochezia, Congestive heart failure, Dilated cardiomyopathy |
OMIM:615895 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Abnormal T-wave, Right ventricular failure, Syncope, Palpitation... |
ORPHA:70591 |
Immunodeficiency 14B, Autosomal Recessive |
|
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis |
OMIM:619281 |
Arterial Tortuosity Syndrome |
|
Myocarditis, Cardiac arrest, Telangiectasia of the skin, Hypertension, Abnormal myocardium morpho... |
ORPHA:3342 |
Alg3-Cdg |
|
Abnormal pinna morphology, Cardiomyopathy, Neural tube defect, Hearing impairment |
ORPHA:79321 |
Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
Hec Syndrome |
|
Arrhythmia, Cardiomyopathy, Endocardial fibroelastosis |
ORPHA:2119 |
Alstrom Syndrome |
|
Hypertension, Congestive heart failure, Dilated cardiomyopathy |
OMIM:203800 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Branchial fistula, Aortic regurgitation, Sensori... |
ORPHA:261330 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Dilated cardiomyopathy |
OMIM:613989 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Arrhythmia, Cardiomegaly, Antenatal intracerebral hemorrhage, Dilated cardiomyopathy |
OMIM:608836 |
Pituitary Adenoma 1, Multiple Types |
|
Cardiomyopathy, Hypertension, Left ventricular hypertrophy |
OMIM:102200 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect |
OMIM:611363 |
Melas |
|
Pulmonary arterial hypertension, Concentric hypertrophic cardiomyopathy, Wolff-Parkinson-White sy... |
ORPHA:550 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Low-set ears, Severe sensorineural hearing impairment, Conductive hearing impairment, Pulmonary a... |
OMIM:620186 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Eosinophilia, Thrombocytopenia, Monocytopenia, Neutrophilia, Sp... |
OMIM:226990 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Congestive heart failure, Pericardial effusion, Dilated cardiomyopathy, Sudden cardiac death |
ORPHA:73224 |
Treacher-Collins Syndrome |
|
Encephalocele, Conductive hearing impairment, Iris coloboma, Branchial fistula, Narrow internal a... |
ORPHA:861 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Dilated cardiomyopathy |
OMIM:610505 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Dilated cardiomyopathy |
OMIM:616541 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Right atrial enlargement, Atrial septal defect |
OMIM:615219 |
Dominant Beta-Thalassemia |
|
Arrhythmia, High-output congestive heart failure, Dilated cardiomyopathy |
ORPHA:231226 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly, Prominent antihelix, Posteriorly rotated ears, Hearing impairment |
ORPHA:466950 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Dilated cardiomyopathy, Hypotension |
ORPHA:20 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmia, Palpitation... |
ORPHA:254892 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Mitral valve prolapse, Pulmonary arterial hypertension, Right atrial enl... |
OMIM:620233 |
Vici Syndrome |
|
Left ventricular hypertrophy, Atrial septal defect, Cardiomyopathy, Congestive heart failure, Dil... |
OMIM:242840 |
Sweet Syndrome |
|
Small vessel vasculitis, Dilated cardiomyopathy |
ORPHA:3243 |
8Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Dysplastic aortic valve, Atrioventricular canal defect, Short neck, Po... |
ORPHA:508488 |
Nestor-Guillermo Progeria Syndrome |
|
Pulmonary arterial hypertension, Mitral regurgitation, Left atrial enlargement, Sinus tachycardia... |
OMIM:614008 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Mitral valve prolapse, Mitral regurgitation, Dilated cardiomyopathy |
OMIM:607459 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:164310 |
Beta-Thalassemia Major |
|
Arrhythmia, High-output congestive heart failure, Dilated cardiomyopathy |
ORPHA:231214 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Cardiac conduction abnormality, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
ORPHA:255210 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Subdural hemorrhage, Pulmonary embolism, Abnormal heart morpholo... |
ORPHA:79282 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
ST segment elevation, Prolonged QRS complex, Hypotension, Increased myocardial glycogen content, ... |
OMIM:261740 |
Immunodeficiency 87 And Autoimmunity |
|
Pulmonary arterial hypertension, Atrial septal defect, Atrioventricular canal defect, Hypertensio... |
OMIM:619573 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... |
OMIM:300835 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Dilated cardiomyopathy |
ORPHA:89842 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Raynaud phenomenon, Vasculitis, Hypertension, Portal hypertension, Dilated cardiomyopathy |
OMIM:615688 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Limitation of neck motion, Lipomyelomeningocele, Occipital meningocel... |
ORPHA:268810 |
Idiopathic Hypereosinophilic Syndrome |
|
Raynaud phenomenon, Intracranial hemorrhage, Pulmonary embolism, Myocardial eosinophilic infiltra... |
ORPHA:3260 |
Aneurysm Of Sinus Of Valsalva |
|
Edema, Bacterial endocarditis, Aortic regurgitation, Congestive heart failure, Heart murmur |
ORPHA:1054 |
Holoprosencephaly 2 |
|
Single ventricle |
OMIM:157170 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Acute leukemia, Abnormal neutrophil ... |
ORPHA:3226 |
Holoprosencephaly 1 |
|
Single ventricle |
OMIM:236100 |
Craniorachischisis |
|
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Myelomeningocele, Anencephaly |
ORPHA:63260 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Mitral regurgitation, Arrhythmia, Tricuspid valve prolapse, Tricuspid regurgitation, Dilated card... |
ORPHA:2556 |
Adult-Onset Still Disease |
|
Myocarditis, Leukocytosis, Neutrophilia, Pericarditis, Splenomegaly |
ORPHA:829 |
Neurocardiofaciodigital Syndrome |
|
Tetralogy of Fallot, Double inlet left ventricle, Patent ductus arteriosus, Atrial septal defect |
OMIM:619869 |
Branchiooculofacial Syndrome |
|
Fusion of middle ear ossicles, Low-set ears, Conductive hearing impairment, Iris coloboma, Short ... |
OMIM:113620 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... |
ORPHA:98849 |
Craniofacial Microsomia |
|
Conductive hearing impairment, Underdeveloped tragus, Tetralogy of Fallot, Ventricular septal def... |
OMIM:164210 |
Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Left ventricular systolic dysfunction, Supraventricular tachycardia, Prolo... |
ORPHA:273 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defec... |
OMIM:607872 |
1P36 Deletion Syndrome |
|
Tetralogy of Fallot, Abnormal heart valve morphology, Telangiectasia, Dilated cardiomyopathy, Abn... |
ORPHA:1606 |
Witteveen-Kolk Syndrome |
|
Uplifted earlobe, Iris coloboma, Protruding ear, Intracranial hemorrhage, Branchial fistula, Hear... |
OMIM:613406 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Bradycardia, Dilated cardiomyopathy |
ORPHA:79404 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Brain abscess, Liver abscess, Anemia |
ORPHA:54251 |
Psoriasis 14, Pustular |
|
Neutrophilia, Leukocytosis |
OMIM:614204 |
Semilobar Holoprosencephaly |
|
Cyclopia, Abnormal heart rate variability, Hydrocephalus, Abnormal heart morphology, Sensorineura... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Cyclopia, Abnormal heart rate variability, Hydrocephalus, Abnormal heart morphology, Sensorineura... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Cyclopia, Abnormal heart rate variability, Hydrocephalus, Abnormal heart morphology, Sensorineura... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Cyclopia, Abnormal heart rate variability, Hydrocephalus, Abnormal heart morphology, Sensorineura... |
ORPHA:93924 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Dilated cardiomyopathy |
ORPHA:79408 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Choreoacanthocytosis |
|
Dilated cardiomyopathy |
ORPHA:2388 |
Schinzel-Giedion Syndrome |
|
Low-set ears, Short neck, Abnormal helix morphology, Umbilical hernia, Infantile sensorineural he... |
ORPHA:798 |
Johanson-Blizzard Syndrome |
|
Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Portal hypertension, Dil... |
OMIM:243800 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Familial Mediterranean Fever |
|
Neutrophilia, Pericarditis, Leukocytosis, Splenomegaly |
OMIM:249100 |
Alström Syndrome |
|
Pulmonary arterial hypertension, Hypertension, Abnormal coronary artery physiology, Portal hypert... |
ORPHA:64 |