Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... |
OMIM:611615 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... |
OMIM:614672 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... |
OMIM:619903 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... |
ORPHA:34515 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,... |
OMIM:160500 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr... |
ORPHA:206546 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc... |
OMIM:300718 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Third degree atri... |
OMIM:601419 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... |
OMIM:611705 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... |
OMIM:612937 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... |
OMIM:609200 |
Dpm3-Cdg |
|
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... |
ORPHA:263494 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... |
OMIM:616827 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... |
ORPHA:206559 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles |
OMIM:609500 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... |
OMIM:619402 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... |
ORPHA:603 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... |
OMIM:255160 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargemen... |
OMIM:619424 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Dilated cardiomyopathy, Upper limb muscle we... |
ORPHA:171442 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... |
ORPHA:59135 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Familial Dyskinesia And Facial Myokymia |
|
Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymia |
ORPHA:324588 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl... |
ORPHA:63273 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the... |
OMIM:620236 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Arr... |
OMIM:602390 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... |
OMIM:108770 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Hepatomegaly |
OMIM:609016 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A... |
ORPHA:171445 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac... |
OMIM:252011 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia |
OMIM:618815 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... |
ORPHA:98912 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art... |
OMIM:161800 |
Distal Myotilinopathy |
|
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... |
ORPHA:98911 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... |
OMIM:612999 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... |
OMIM:614096 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG, Muscular dystrophy |
OMIM:309930 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... |
OMIM:615959 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... |
OMIM:602541 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia |
OMIM:606703 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... |
OMIM:255310 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension, Hypertr... |
ORPHA:1349 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... |
ORPHA:272 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... |
ORPHA:399086 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... |
ORPHA:98855 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ... |
OMIM:615084 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... |
ORPHA:98853 |
3-Methylglutaconic Aciduria, Type V |
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Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Muscular Dystrophy, Duchenne Type |
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Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... |
OMIM:310200 |
Cardiomyopathy, Familial Hypertrophic, 10 |
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Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
Lethal Congenital Contracture Syndrome 2 |
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Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ... |
OMIM:607598 |
Triose Phosphate-Isomerase Deficiency |
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Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
ORPHA:868 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
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Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
Myopathy, Myofibrillar, 4 |
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Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... |
OMIM:609452 |
Hypereosinophilic Syndrome, Idiopathic |
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Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly |
OMIM:607685 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
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Cardiomyopathy, Distal amyotrophy |
OMIM:610100 |
Coronary Arterial Fistula |
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Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
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Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Cardiomegaly |
ORPHA:88643 |
Fixed Subaortic Stenosis |
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Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
Atrial Fibrillation, Familial, 10 |
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Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
Cardiomyopathy, Familial Restrictive, 3 |
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Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
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Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
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Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture |
OMIM:618120 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction |
OMIM:606842 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function |
OMIM:618805 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
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Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... |
OMIM:619167 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
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Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
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Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... |
OMIM:620152 |
Dk1-Cdg |
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Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... |
ORPHA:91131 |
Hjv Or Hamp-Related Hemochromatosis |
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Dilated cardiomyopathy |
ORPHA:79230 |
Cardiomyopathy, Familial Hypertrophic, 2 |
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Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
Loeffler Endocarditis |
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Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
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Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Supraventricular tachycardia |
OMIM:255100 |
Atrial Standstill |
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Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Sudden Cardiac Failure, Infantile |
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Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
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Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... |
OMIM:212112 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
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Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo... |
OMIM:607155 |
Malonyl-Coa Decarboxylase Deficiency |
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Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
OMIM:248360 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakness of f... |
ORPHA:352447 |
Isolated Right Ventricular Hypoplasia |
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Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Megabladder, Congenital |
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Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
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Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Cardiom... |
OMIM:615352 |
Congenital Myopathy 24 |
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Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... |
OMIM:617336 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
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Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Familial Atrial Myxoma |
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Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
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Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Cardiomyopathy, Familial Hypertrophic, 11 |
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Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
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Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Polymyositis |
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Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
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Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
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Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... |
ORPHA:1345 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
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Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:231530 |
Sick Sinus Syndrome 2 |
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Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
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Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy... |
ORPHA:86812 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
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Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage |
ORPHA:280679 |
Cardiomyopathy, Familial Hypertrophic, 13 |
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Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... |
OMIM:613243 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
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Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Mcleod Syndrome |
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Hepatomegaly, Atrial fibrillation, Splenomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomy... |
OMIM:300842 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Congestive heart failure, Flexion con... |
ORPHA:367 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... |
ORPHA:860 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
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Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... |
OMIM:253700 |
Cardiomyopathy, Familial Hypertrophic, 6 |
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Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Propionic Acidemia |
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Cardiomyopathy, Arrhythmia, Hepatomegaly |
ORPHA:35 |
Familial Cutaneous Collagenoma |
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Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Multifocal Atrial Tachycardia |
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Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Cardiomyopathy, Familial Restrictive, 6 |
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Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... |
OMIM:619433 |
Amyloidosis, Finnish Type |
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Cardiomyopathy, Cardiac amyloidosis |
OMIM:105120 |
Indomethacin Embryofetopathy |
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Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
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Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Cardiomyopathy, Familial Hypertrophic, 26 |
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Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Neonatal Lupus Erythematosus |
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Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent... |
ORPHA:398124 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
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Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
9Q31.1Q31.3 Microdeletion Syndrome |
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Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension |
ORPHA:401923 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... |
ORPHA:263297 |
Mitochondrial Trifunctional Protein Deficiency 2 |
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Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
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Cardiomegaly |
OMIM:613576 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
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Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:611126 |
Barth Syndrome |
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Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Carnitine Deficiency, Systemic Primary |
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Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myopathy, Mitral regurgitat... |
OMIM:212140 |
Neutrophilic Dermatosis, Acute Febrile |
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Small vessel vasculitis, Dilated cardiomyopathy |
OMIM:608068 |
Lethal Infantile Mitochondrial Myopathy |
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Cardiomyopathy |
ORPHA:254857 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
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Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:614299 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
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Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R... |
ORPHA:422 |
Isolated Atp Synthase Deficiency |
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Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
ORPHA:254913 |
Cirrhotic Cardiomyopathy |
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Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Uruguay Faciocardiomusculoskeletal Syndrome |
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Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske... |
OMIM:300280 |
Duchenne Muscular Dystrophy |
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Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Cardiomyopathy |
ORPHA:98896 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
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Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
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Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... |
ORPHA:119 |
Acyl-Coa Dehydrogenase 9 Deficiency |
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Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... |
ORPHA:99901 |
Congenital Tricuspid Valve Dysplasia |
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Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Nephrotic Syndrome, Type 11 |
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Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Long Qt Syndrome 15 |
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Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se... |
ORPHA:26793 |
Combined Oxidative Phosphorylation Deficiency 10 |
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Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly |
OMIM:614702 |
Refsum Disease, Classic |
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Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness |
OMIM:266500 |
Mucopolysaccharidosis, Type Iiib |
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Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Gm1-Gangliosidosis, Type I |
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Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... |
OMIM:230500 |
Complete Atrioventricular Septal Defect |
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Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
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Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
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Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Mitochondrial Trifunctional Protein Deficiency 1 |
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Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Arrhythmia |
OMIM:609015 |
Hemochromatosis, Type 1 |
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Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Rhabdom... |
OMIM:614921 |
Timothy Syndrome |
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Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Hemochromatosis, Type 2B |
|
Splenomegaly, Cardiomyopathy, Congestive heart failure, Hepatomegaly |
OMIM:613313 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypertension, Dilated cardiomyopathy, Abnormal left ventricle morphology, Cerebral hemorrhage |
OMIM:300845 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
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Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Familial Isolated Restrictive Cardiomyopathy |
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Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric... |
ORPHA:75249 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... |
OMIM:618652 |
Heart Block, Congenital |
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Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Aorta Coarctation |
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Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly |
OMIM:269920 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Nephronophthisis 16 |
|
Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, En... |
OMIM:615382 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
Kallmann Syndrome-Heart Disease Syndrome |
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Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu... |
ORPHA:2326 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Increased variability in muscle fiber diameter |
ORPHA:70595 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... |
OMIM:261740 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Arrhythmia, Hypertension |
ORPHA:3222 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... |
ORPHA:268 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Myocardial fibrosis, Calf m... |
OMIM:253800 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly |
ORPHA:93476 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left v... |
OMIM:201475 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, Hypert... |
OMIM:164310 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy |
OMIM:617713 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Generalized am... |
ORPHA:66634 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion... |
OMIM:608836 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyop... |
OMIM:615895 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Cardiomyopathy, Hypertension |
OMIM:102200 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... |
ORPHA:308552 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy |
OMIM:618321 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Dilated ... |
ORPHA:254892 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia |
ORPHA:42 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:71212 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Melas |
|
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re... |
ORPHA:550 |
Ohdo Syndrome, Sbbys Variant |
|
Dilated cardiomyopathy |
OMIM:603736 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Hec Syndrome |
|
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis |
ORPHA:2119 |
Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Alstrom Syndrome |
|
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Hepatomegaly |
OMIM:203800 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Lethal Acantholytic Erosive Disorder |
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Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... |
ORPHA:158687 |
16Q24.3 Microdeletion Syndrome |
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Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
Arterial Tortuosity Syndrome |
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Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... |
ORPHA:3342 |
Cantu Syndrome |
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Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
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Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Lower limb muscle weakness, Foo... |
ORPHA:521411 |
Idiopathic Pulmonary Hemosiderosis |
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Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly |
ORPHA:99931 |
Pseudo-Torch Syndrome 3 |
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Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
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Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... |
OMIM:616866 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... |
OMIM:212138 |
Dominant Beta-Thalassemia |
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Hypoplasia of the musculature, High-output congestive heart failure, Splenomegaly, Dilated cardio... |
ORPHA:231226 |
Glycogen Storage Disease Ii |
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Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
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Dilated cardiomyopathy |
OMIM:613989 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,... |
ORPHA:465508 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Hepatomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Pat... |
OMIM:610505 |
Hsd10 Disease, Infantile Type |
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Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Beta-Thalassemia Major |
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Hepatomegaly, Hypoplasia of the musculature, High-output congestive heart failure, Splenomegaly, ... |
ORPHA:231214 |
Craniofaciofrontodigital Syndrome |
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Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
ORPHA:73224 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c... |
ORPHA:565612 |
Beck-Fahrner Syndrome |
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Ventricular septal defect, Facial hypotonia, Cardiomegaly |
OMIM:618798 |
Vici Syndrome |
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Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,... |
OMIM:242840 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Hepatomegaly, Dilated cardiomyopathy, Cardiac arrest, Hypotension |
ORPHA:20 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Hepatomegaly, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-red muscle fibers, H... |
ORPHA:255210 |
Absence Of The Pulmonary Artery |
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Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology... |
ORPHA:980 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Dilated cardiomyopathy |
OMIM:616541 |
Congenitally Corrected Transposition Of The Great Arteries |
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Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Sweet Syndrome |
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Small vessel vasculitis, Myositis, Dilated cardiomyopathy |
ORPHA:3243 |
Sandhoff Disease |
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Skeletal muscle atrophy, Orthostatic hypotension, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly,... |
OMIM:268800 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Hepatomegaly, Portal hypertension, Raynaud phenomenon, Splenomegaly, Vasculitis, Dilated cardiomy... |
OMIM:615688 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy |
ORPHA:89842 |
Lethal Congenital Contracture Syndrome 10 |
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Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... |
OMIM:617022 |
Idiopathic Hypereosinophilic Syndrome |
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Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary emboli... |
ORPHA:3260 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Sickle Cell Disease |
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Hepatomegaly, Hypertension, Splenomegaly, Cardiomegaly |
OMIM:603903 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Pulmo... |
ORPHA:79282 |
Cantú Syndrome |
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Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Heterotaxy, Visceral, 1, X-Linked |
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Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... |
OMIM:602782 |
Fucosidosis |
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Hepatomegaly, Decreased muscle mass, Cardiomegaly |
ORPHA:349 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Immunodeficiency 87 And Autoimmunity |
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Hepatomegaly, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Third degree atrio... |
OMIM:619573 |
Histiocytoid Cardiomyopathy |
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Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Limb hypertonia, Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia |
ORPHA:228308 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ... |
ORPHA:365 |
Microphthalmia With Linear Skin Defects Syndrome |
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Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr... |
ORPHA:2556 |
Steinert Myotonic Dystrophy |
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Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy... |
ORPHA:273 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu... |
ORPHA:2463 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Truncus Arteriosus |
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Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Mogs-Cdg |
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Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Gaucher Disease, Perinatal Lethal |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita |
OMIM:608013 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy... |
OMIM:130650 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... |
OMIM:245600 |
Congenital Total Pulmonary Venous Return Anomaly |
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Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Mucolipidosis Ii Alpha/Beta |
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Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple... |
OMIM:252500 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... |
OMIM:618143 |
1P36 Deletion Syndrome |
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Abnormal heart valve morphology, Camptodactyly of finger, Dilated cardiomyopathy, Telangiectasia,... |
ORPHA:1606 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Ventricular septal ... |
OMIM:607872 |
Congenital Tracheomalacia |
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Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Choreoacanthocytosis |
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Hepatomegaly, Peroneal muscle atrophy, Splenomegaly, Dilated cardiomyopathy, Myopathy, Distal amy... |
ORPHA:2388 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia |
OMIM:230000 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
Mucopolysaccharidosis Type 3 |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss... |
ORPHA:581 |
Bohring-Opitz Syndrome |
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Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... |
ORPHA:97297 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Macroglossia, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Dilated cardiomyopathy, Flexion contracture, Foot joint contracture |
ORPHA:79408 |
Abetalipoproteinemia |
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Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Distal lower limb muscle weakness |
ORPHA:14 |
Ogden Syndrome |
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Torticollis, Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventr... |
OMIM:300855 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:618278 |
Aicardi-Goutières Syndrome |
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Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hype... |
ORPHA:51 |
Johanson-Blizzard Syndrome |
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Hepatomegaly, Ventricular septal defect, Portal hypertension, Situs inversus totalis, Splenomegal... |
OMIM:243800 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Cardiomegaly, Congestive heart fa... |
OMIM:256040 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, S... |
ORPHA:116 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... |
OMIM:182250 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... |
ORPHA:3472 |
Williams Syndrome |
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Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort... |
ORPHA:904 |
Liver Disease, Severe Congenital |
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Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h... |
ORPHA:51608 |
Homozygous Familial Hypercholesterolemia |
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Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
Alström Syndrome |
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Hepatomegaly, Portal hypertension, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy... |
ORPHA:64 |