Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract, Arrhythmia, Sudden cardiac death |
OMIM:212500 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability |
OMIM:614896 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Atrial Fibrillation, Familial, 18 |
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Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... |
OMIM:617280 |
Cardiac Conduction Defect |
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Syncope, Arrhythmia |
OMIM:115080 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
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Bradycardia, Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia |
OMIM:611938 |
Corneal Dystrophy, Lisch Epithelial |
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Corneal dystrophy |
OMIM:300778 |
Keratoconus 1 |
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Astigmatism, Keratoconus |
OMIM:148300 |
Keratoconus 6 |
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Keratoconus |
OMIM:614623 |
Keratoconus 5 |
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Keratoconus |
OMIM:614622 |
Keratoconus 8 |
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Keratoconus |
OMIM:614628 |
Keratoconus 7 |
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Keratoconus |
OMIM:614629 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Opacification of the corneal ... |
OMIM:217700 |
Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
Keratoconus 9 |
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Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Atrial Septal Defect 6 |
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Bradycardia, Atrial fibrillation |
OMIM:613087 |
Nathalie Syndrome |
|
Cataract, Arrhythmia |
ORPHA:2663 |
Familial Short Qt Syndrome |
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Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... |
ORPHA:51083 |
Corneal Dystrophy, Congenital Stromal |
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Corneal erosion, Increased corneal thickness, Band-shaped corneal dystrophy, Corneal dystrophy |
OMIM:610048 |
His Bundle Tachycardia |
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Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy |
ORPHA:3283 |
Long Qt Syndrome 15 |
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Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... |
OMIM:616249 |
Long Qt Syndrome 5 |
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Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... |
OMIM:613695 |
Short Qt Syndrome 2 |
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Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... |
OMIM:609621 |
Long Qt Syndrome 9 |
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Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... |
OMIM:611818 |
Cardiac Arrhythmia, Ankyrin-B-Related |
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Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation |
OMIM:600919 |
Megalocornea |
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Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... |
OMIM:309300 |
Progressive Familial Heart Block, Type Ib |
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Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... |
OMIM:604559 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
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Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Progressive Familial Heart Block, Type Ii |
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Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... |
OMIM:140400 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
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Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
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Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
Long Qt Syndrome 16 |
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Prolonged QTc interval, Bradycardia, Second degree atrioventricular block, T-wave alternans |
OMIM:618782 |
Atrial Fibrillation, Familial, 7 |
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Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... |
OMIM:612240 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal opacity, Corneal dystrophy |
OMIM:300779 |
Sick Sinus Syndrome 1 |
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Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... |
OMIM:608567 |
Long Qt Syndrome 8 |
|
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Sudden cardiac death, Sinus bradyc... |
OMIM:618447 |
Cornea Plana 2, Autosomal Recessive |
|
Decreased corneal thickness, Corneal arcus, Sclerocornea, Corneal opacity, Flat cornea |
OMIM:217300 |
Chronic Atrial And Intestinal Dysrhythmia |
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Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial... |
OMIM:616201 |
Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Sick Sinus Syndrome 4 |
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Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... |
OMIM:619464 |
Brugada Syndrome |
|
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... |
ORPHA:130 |
Atrial Standstill |
|
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... |
ORPHA:1344 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy |
OMIM:121820 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... |
OMIM:614021 |
Cardiomyopathy, Familial Hypertrophic, 6 |
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Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... |
OMIM:600858 |
Cardiomyopathy, Dilated, 1A |
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Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
Macular Corneal Dystrophy |
|
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal crystals, Decreased cor... |
ORPHA:98969 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Atrial Fibrillation, Familial, 9 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... |
OMIM:613980 |
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 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Corneal stromal edema, Increased corneal thickness, Corneal opacity, Abnor... |
ORPHA:293603 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
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Keratoconus, Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Atrial Fibrillation, Familial, 15 |
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Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Permanent atrial fibrill... |
OMIM:614022 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractions, Permanent atrial fib... |
OMIM:611493 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Sudden cardiac death, Premature ventricular con... |
OMIM:614916 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... |
ORPHA:168796 |
Long Qt Syndrome 13 |
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Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
Brugada Syndrome 1 |
|
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... |
OMIM:601144 |
Sick Sinus Syndrome 2 |
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Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Torsade de pointes, Synco... |
OMIM:163800 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... |
OMIM:604400 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Sudden Cardiac Failure, Infantile |
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Myocarditis, Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Bradyca... |
OMIM:617222 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... |
ORPHA:45453 |
Ventricular Tachycardia, Familial |
|
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Long Qt Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613688 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia |
OMIM:609909 |
Long Qt Syndrome 6 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613693 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic dia... |
OMIM:612124 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract, Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejec... |
OMIM:615184 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Keratoconus, Bradycardia, Ventricular esc... |
ORPHA:542306 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Ring Dermoid Of Cornea |
|
Abnormal corneal limbus morphology, Abnormal conjunctiva morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Wolff-Parkinson-White Syndrome |
|
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... |
OMIM:194200 |
Cardiomyopathy, Dilated, 1G |
|
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... |
OMIM:604145 |
Brittle Cornea Syndrome 2 |
|
Corneal perforation, Megalocornea, Keratoglobus, Decreased corneal thickness, Keratoconus, Sclero... |
OMIM:614170 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Developmental ... |
OMIM:618815 |
Cardiomyopathy, Dilated, 1E |
|
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... |
OMIM:601154 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Descemet Membrane Folds, Corneal guttata, Corneal dystrophy, Corneal stromal edema, Corneal degen... |
OMIM:136800 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Thi... |
OMIM:601419 |
Romano-Ward Syndrome |
|
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Sudden cardiac death, Sinus... |
ORPHA:101016 |
Atrial Standstill 1 |
|
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... |
OMIM:108770 |
Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Sudden cardiac death, Congestive heart failure, Sinus... |
OMIM:601494 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Ectopia pupillae, Corneal guttata, Keratoconus, Corneal dystrophy |
OMIM:609141 |
Cardiomyopathy, Dilated, 1O |
|
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... |
OMIM:608569 |
Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... |
OMIM:615441 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Polymorphic and polytopic ventricular extrasystoles, Left ventricular noncompaction cardiomyopath... |
OMIM:115000 |
Edict Syndrome |
|
Astigmatism, Anterior polar cataract, Hypoplasia of the iris, Keratoconus, Microcornea |
OMIM:614303 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... |
OMIM:611528 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
Cataract-Microcornea Syndrome |
|
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea |
ORPHA:1377 |
Long Qt Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... |
OMIM:192500 |
Short Qt Syndrome 1 |
|
Cardiac arrest, Paroxysmal atrial fibrillation, Syncope, Palpitations, Shortened QT interval, Sud... |
OMIM:609620 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Atrial Fibrillation, Familial, 3 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Sudden cardiac death, Permanent ... |
OMIM:607554 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Brugada Syndrome 9 |
|
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope |
OMIM:616399 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval |
OMIM:220400 |
Long Qt Syndrome 3 |
|
Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Syncope, Sudden cardiac deat... |
OMIM:603830 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardi... |
OMIM:615745 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Ventricular tachycardia, Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventri... |
OMIM:607450 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Presyncope, Left bundle... |
OMIM:618920 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus |
OMIM:613826 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... |
OMIM:613838 |
Long Qt Syndrome 12 |
|
Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation |
OMIM:612955 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... |
OMIM:611875 |
Long Qt Syndrome 14 |
|
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... |
OMIM:616247 |
Cardiomyopathy, Dilated, 2F |
|
Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Congestive heart fa... |
OMIM:619747 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation |
OMIM:620231 |
Familial Progressive Cardiac Conduction Defect |
|
Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure |
ORPHA:871 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... |
OMIM:610193 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
Cardiomyopathy, Dilated, 2G |
|
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... |
OMIM:619897 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Premature ventricular contraction, Ventricular fibrillation, Sudden cardiac death |
OMIM:612956 |
Long Qt Syndrome 10 |
|
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... |
OMIM:611819 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Premature ventricular contraction, Sudden cardiac death |
OMIM:604401 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Ventricular tachycardia, Left ventricular outflow tract obstruction, Severely reduced left ventri... |
OMIM:613251 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal guttata, Corneal dystrophy |
OMIM:615523 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, ST segment elevation, Mitral regurgitation, Hypotension, Syncope, Palpita... |
ORPHA:66529 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Palpitations, Supraventricular tachycardi... |
OMIM:608758 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Bradycardia, Hypertrophic cardiomyopathy |
OMIM:616276 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal dystrophy, Corneal stromal edema, Abnormal Descemet membrane morphology,... |
OMIM:613270 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal guttata, Corneal dystrophy, Corneal degeneration |
OMIM:610158 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618235 |
Brittle Cornea Syndrome 1 |
|
Keratoglobus, Keratoconus, Abnormal cornea morphology, Decreased corneal thickness |
OMIM:229200 |
Brugada Syndrome 7 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... |
OMIM:613120 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Bradycardia, Hypertrophic cardiomyopathy |
OMIM:616277 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Right ventricular c... |
OMIM:609040 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Syncope, Palpitations, A... |
OMIM:612098 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Bradycardia, Congestive heart failure |
OMIM:619048 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... |
OMIM:615916 |
Brugada Syndrome 2 |
|
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... |
OMIM:611777 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Left bundle branch block, First degree atrioventricular block |
OMIM:615616 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Hypotension, Cardiomyopathy, Premature ventricular contr... |
OMIM:212138 |
Atrial Septal Defect, Sinus Venosus Type |
|
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... |
ORPHA:99105 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... |
ORPHA:98964 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... |
OMIM:108950 |
Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... |
OMIM:617315 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Arrhythmia, Myocardial infarction, Congestive heart failure, Orthostatic hypotensio... |
ORPHA:330001 |
Lipoyltransferase 1 Deficiency |
|
Bradycardia, Pulmonary arterial hypertension |
OMIM:616299 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Bradycardia, Arrhythmia, Cardiomyopathy, Cataract |
OMIM:609286 |
Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
Cln3 Disease |
|
Bradycardia, T-wave inversion, Cataract |
ORPHA:228346 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract |
OMIM:116200 |
Developmental And Epileptic Encephalopathy 101 |
|
Bradycardia, Third degree atrioventricular block |
OMIM:619814 |
Timothy Syndrome |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pr... |
OMIM:601005 |
Dermatitis, Atopic |
|
Cataract, Keratoconus, Conjunctivitis |
OMIM:603165 |
Leber Congenital Amaurosis 2 |
|
Cataract, Keratoconus |
OMIM:204100 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... |
ORPHA:300751 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, ST segment elevation, Prolonged QRS complex, Hypotension, Cardiomyopathy, ST segment de... |
OMIM:261740 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Palpitations, Angina pectoris, Hypertrophic cardiomyopathy, Atrial fibri... |
OMIM:613873 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment |
ORPHA:1055 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Ventricular fibrillation, Paroxysmal ventricular tachycardia, T-wave invers... |
OMIM:613507 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block |
OMIM:614407 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
Leber Congenital Amaurosis 1 |
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Cataract, Keratoconus |
OMIM:204000 |
Combined Oxidative Phosphorylation Deficiency 10 |
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Bradycardia, Hypertrophic cardiomyopathy |
OMIM:614702 |
Leber Congenital Amaurosis |
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Cataract, Keratoconus |
ORPHA:65 |
Cardiomyopathy, Dilated, 1Y |
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Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Con... |
OMIM:611878 |
Brugada Syndrome 5 |
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ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Leber Congenital Amaurosis 8 |
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Cataract, Keratoconus |
OMIM:613835 |
Congenitally Corrected Transposition Of The Great Arteries |
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Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Sick sinus syndrome, Premature atrial co... |
ORPHA:216694 |
Aapoaiv Amyloidosis |
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Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Supravalvular ... |
ORPHA:439232 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
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Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
Brittle Cornea Syndrome |
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Pulmonic stenosis, Keratoglobus, Corneal erosion, Corneal scarring, Corneal dystrophy, Decreased ... |
ORPHA:90354 |
Tetanus |
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Bradycardia, Hypertension, Tachycardia |
ORPHA:3299 |
Amoebic Keratitis |
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Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... |
ORPHA:67043 |
Acitretin/Etretinate Embryopathy |
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Bradycardia, Third degree atrioventricular block, Antecubital pterygium |
ORPHA:40366 |
Glutamine Deficiency, Congenital |
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Bradycardia |
OMIM:610015 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
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Bradycardia |
OMIM:614498 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
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Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia |
OMIM:616812 |
Retinitis Pigmentosa |
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Cataract, Keratoconus |
ORPHA:791 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... |
OMIM:122000 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Bradycardia |
ORPHA:226313 |
Familial Thyroid Dyshormonogenesis |
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Bradycardia |
ORPHA:95716 |
Hyperthyroidism, Familial Gestational |
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Tachycardia |
OMIM:603373 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
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Sinus bradycardia |
OMIM:126320 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
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Bradycardia, Pulmonary arterial hypertension |
OMIM:619272 |
Arthrogryposis, Distal, Type 5 |
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Keratoglobus, Astigmatism, Keratoconus |
OMIM:108145 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Corneal scarring, Hypertension, Bradycardia, Tachycardia, Retinal hemorrhage |
OMIM:614653 |
Peripartum Cardiomyopathy |
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Myocarditis, Pulmonary arterial hypertension, Abnormal T-wave, Mitral regurgitation, Ventricular ... |
ORPHA:563 |
Pseudo-Torch Syndrome 2 |
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Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Coronary Arterial Fistula |
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Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, Sy... |
ORPHA:2041 |
Necrotizing Enterocolitis |
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Bradycardia, Shock, Hypotension |
ORPHA:391673 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Bradycardia, Prolonged QT interval, Atrial fibrillation, Tachycardia |
OMIM:613327 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Bradycardia |
OMIM:608800 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Bradycardia, Persistent fetal circulation, Hypertrophic cardiomyopathy |
OMIM:618775 |
Glossopharyngeal Neuralgia |
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Bradycardia, Jaw claudication, Syncope |
ORPHA:221098 |
Microtriplication 11Q24.1 |
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Keratoconus |
ORPHA:289522 |
D-Glyceric Aciduria |
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Bradycardia |
OMIM:220120 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
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Decreased corneal thickness |
ORPHA:293967 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Bradycardia |
ORPHA:565624 |
Congenital Disorder Of Glycosylation, Type Im |
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Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
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Palpitations, Tachycardia |
OMIM:188580 |
Sepsis In Premature Infants |
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Bradycardia, Tachycardia, Hypotension |
ORPHA:90051 |
Leber Congenital Amaurosis 9 |
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Keratoconus |
OMIM:608553 |
Neuroleptic Malignant Syndrome |
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Hypotension, Arrhythmia, Hypertension, Pulmonary embolism, Bradycardia, Tachycardia, Hypertensive... |
ORPHA:94093 |
Crimean-Congo Hemorrhagic Fever |
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Myocarditis, Pulmonary arterial hypertension, Diffuse alveolar hemorrhage, Hypotension, Subdural ... |
ORPHA:99827 |
Lujo Hemorrhagic Fever |
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Myocarditis, Hypotension, Subconjunctival hemorrhage, Shock, Bradycardia |
ORPHA:319213 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Tachycardia |
OMIM:221400 |
Histiocytoid Cardiomyopathy |
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Right bundle branch block, Ventricular tachycardia, Congenital aphakia, Wolff-Parkinson-White syn... |
ORPHA:137675 |
Encephalitis Lethargica |
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Bradycardia |
ORPHA:83600 |
Malignant Hyperthermia, Susceptibility To, 5 |
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Tachycardia |
OMIM:601887 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
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Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Epis... |
OMIM:171420 |
Proximal Spinal Muscular Atrophy |
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Bradycardia |
ORPHA:70 |
Sheehan Syndrome |
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Bradycardia, Palpitations, Orthostatic hypotension |
ORPHA:91355 |
Complete Atrioventricular Septal Defect |
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Abnormal EKG, Third heart sound, Systolic heart murmur, Elevated jugular venous pressure, Pulmona... |
ORPHA:1329 |
Alagille Syndrome |
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Abnormal pupil morphology, Hypertension, Corneal dystrophy, Keratoconus, Telangiectasia of the skin |
ORPHA:52 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Bradycardia |
ORPHA:90673 |
Arterial Tortuosity Syndrome |
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Cardiac arrest, Myocarditis, Keratoglobus, Telangiectasia of the skin, Hypertension, Keratoconus,... |
ORPHA:3342 |
Optic Atrophy-Intellectual Disability Syndrome |
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Keratoconus |
ORPHA:401777 |
Pheochromocytoma |
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Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Deve... |
OMIM:171300 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
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Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation |
OMIM:261990 |
Costello Syndrome |
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Keratoconus, Pulmonic stenosis, Hypertrophic cardiomyopathy |
ORPHA:3071 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Keratoconus, Conjunctivitis |
OMIM:242150 |
Marburg Hemorrhagic Fever |
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Hypotension, Capillary leak, Conjunctival hyperemia, Subconjunctival hemorrhage, Shock, Hypovolem... |
ORPHA:99826 |
Arterial Tortuosity Syndrome |
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Astigmatism, Ischemic stroke, Hypertension, Aortic regurgitation, Telangiectases of the cheeks, K... |
OMIM:208050 |
Warburg-Cinotti Syndrome |
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Symblepharon, Limbal stem cell deficiency, Corneal neovascularization, Decreased corneal thickness |
OMIM:618175 |
Nail-Patella Syndrome |
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Cataract, Lester's sign, Microphakia, Keratoconus, Microcornea, Antecubital pterygium |
OMIM:161200 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Bradycardia |
ORPHA:90674 |
Lacrimoauriculodentodigital Syndrome |
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Keratoconjunctivitis, Corneal ulceration, Recurrent corneal erosions, Limbal stem cell deficiency... |
ORPHA:2363 |
3-Methylglutaconic Aciduria, Type Viii |
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Bradycardia, Cataract |
OMIM:617248 |
Yellow Fever |
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Reduced left ventricular ejection fraction, Capillary leak, Supraventricular arrhythmia, Hemateme... |
ORPHA:99829 |
Bohring-Opitz Syndrome |
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Bradycardia |
ORPHA:97297 |
Combined Oxidative Phosphorylation Deficiency 39 |
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Sinus bradycardia |
OMIM:618397 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Bradycardia, Abnormal cornea morphology, Dilated cardiomyopathy |
ORPHA:79404 |
Angelman Syndrome |
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Astigmatism, Keratoconus, Iris hypopigmentation |
ORPHA:72 |
Gapo Syndrome |
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Keratoconus |
ORPHA:2067 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Astigmatism, Sinus bradycardia |
OMIM:619482 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Bradycardia |
OMIM:218700 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Bradycardia, Pulmonary insufficiency |
OMIM:614437 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Keratoconus, Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture, Microcornea |
OMIM:225400 |
Gapo Syndrome |
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Megalocornea, Shallow anterior chamber, Keratoconus |
OMIM:230740 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Bradycardia |
ORPHA:226307 |
Hypermobile Ehlers-Danlos Syndrome |
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Arrhythmia, Keratoconus, Keratoconjunctivitis sicca |
ORPHA:285 |
Ehlers-Danlos Syndrome, Vascular Type |
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Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Keratoconus, Arterial rupture, ... |
OMIM:130050 |
Vascular Ehlers-Danlos Syndrome |
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Telangiectasia of the skin, Abnormal pupil morphology, Hypertension, Transient ischemic attack, K... |
ORPHA:286 |
Short Stature And Microcephaly With Genital Anomalies |
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OMIM:618702 |