Jervell And Lange-Nielsen Syndrome 1 |
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Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Long Qt Syndrome 2 |
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Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Long Qt Syndrome 13 |
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Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Long Qt Syndrome 10 |
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Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Long Qt Syndrome 6 |
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Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Long Qt Syndrome 14 |
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Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Atrial Fibrillation, Familial, 9 |
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Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Long Qt Syndrome 1 |
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Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Atrial Fibrillation, Familial, 3 |
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Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
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Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Long Qt Syndrome 11 |
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Syncope, Prolonged QTc interval |
OMIM:611820 |
Brugada Syndrome 9 |
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Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Long Qt Syndrome 9 |
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Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Regional Odontodysplasia |
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Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Andersen-Tawil Syndrome |
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Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... |
ORPHA:37553 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
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Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Jervell And Lange-Nielsen Syndrome 2 |
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Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Progressive Familial Heart Block, Type Ib |
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Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Sick Sinus Syndrome 1 |
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Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Long Qt Syndrome 8 |
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Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... |
OMIM:618447 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
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Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Cardiac Arrhythmia, Ankyrin-B-Related |
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Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Myofibrillar Myopathy 10 |
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Mandibular prognathia, Sandal gap, Increased QRS voltage, Left ventricular hypertrophy, Flexion c... |
OMIM:619040 |
Long Qt Syndrome 16 |
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Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Cardiomyopathy, Dilated, 1D |
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Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Long Qt Syndrome 5 |
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Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Long Qt Syndrome 12 |
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Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Long Qt Syndrome 15 |
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Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Sick Sinus Syndrome 2 |
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Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Amelogenesis Imperfecta |
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Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Atrial Fibrillation, Familial, 7 |
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Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Cardiomyopathy, Familial Hypertrophic, 27 |
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Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Long Qt Syndrome 3 |
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Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Sick Sinus Syndrome 4 |
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Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Timothy Syndrome |
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Prolonged QT interval, Thin upper lip vermilion, Cardiomegaly, Ventricular tachycardia, Atriovent... |
OMIM:601005 |
Dentin Dysplasia, Type I |
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Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Romano-Ward Syndrome |
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Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Congenital Heart Block |
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First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Familial Short Qt Syndrome |
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Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Metaphyseal Chondrodysplasia, Spahr Type |
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Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Congestiv... |
OMIM:610198 |
Tako-Tsubo Cardiomyopathy |
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Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Dental Ankylosis |
|
Clinodactyly of the 5th finger, Tooth agenesis, Abnormal dental enamel morphology, Mandibular pro... |
ORPHA:1077 |
Short Qt Syndrome 1 |
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Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Incessant Infant Ventricular Tachycardia |
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Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Cirrhotic Cardiomyopathy |
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Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Cardiomegaly, Left ventric... |
ORPHA:57777 |
Short Qt Syndrome 7 |
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Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Short Qt Syndrome 2 |
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Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Neonatal Lupus Erythematosus |
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Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent... |
ORPHA:398124 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Pyle Disease |
|
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... |
OMIM:265900 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Familial Hyperaldosteronism Type Iii |
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Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Left ven... |
ORPHA:251274 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Hip contracture, Microretrognathia, Coxa valga, Micrognathia, Carious teet... |
OMIM:618363 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Thin upper lip vermilion, Micrognathia, Narrow mouth, 2-3 toe cutaneous sy... |
OMIM:620029 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Calcium nephrolithiasis, Prolonged QT interval, Ventricular a... |
ORPHA:36913 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia... |
ORPHA:26793 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
Rett Syndrome |
|
Short foot, Abnormal T-wave, Prolonged QTc interval, Abnormality of the dentition |
OMIM:312750 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Bundle branch block, Ureteral duplication, Congenital hip dislocation, Hyp... |
ORPHA:373 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Prolonged QT interval, Cortical subperiosteal resorption of humeral me... |
ORPHA:94089 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Carnosinuria, Cardiomyopathy |
OMIM:309930 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Prolonged QT interval, Short metacarpal, Short fifth metatarsal, Short... |
ORPHA:79444 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Proteinuria, Myocardial infarction, Di... |
ORPHA:90068 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Splenomegaly, Bradycardia |
OMIM:613327 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h... |
ORPHA:31826 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Mandibular prognathia, Malar flattening, Prolonged QT interval |
OMIM:300352 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Prolonged QT interval, Short metacarpal, Short fifth metatarsal, Broad... |
ORPHA:79443 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Hypoplasia of penis, Dilated cardiomyopathy, Perineal hypospadias, 3-Methy... |
ORPHA:66634 |
Drug-Induced Lupus Erythematosus |
|
Hematuria, Pericarditis, Prolonged QTc interval |
ORPHA:231111 |
Gitelman Syndrome |
|
Prolonged QT interval, Polyuria, Renal magnesium wasting, Ventricular tachycardia, Enuresis, Hypo... |
OMIM:263800 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Thin upper lip vermilion, Micrognathia, Upper limb undergrowth, Short phil... |
ORPHA:529962 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Low urinary cyclic AMP response to PTH administration |
ORPHA:94090 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Arrhythmia, Ketonuria |
ORPHA:480864 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Cardiac arrest, Myoglobinuria, Ventricular tachycardia, Torsade de pointes, Hypertroph... |
OMIM:616878 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Pulmonic stenosis... |
OMIM:613312 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hypertrophic... |
ORPHA:71212 |
Gitelman Syndrome |
|
Prolonged QT interval, Proteinuria, Urinary incontinence, Focal segmental glomerulosclerosis, Dec... |
ORPHA:358 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Decreased urinary potassium, Shortened PR interval, Impaired myocardial co... |
ORPHA:79102 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hallux valgus, Prolonged QT interval, Tachycardia, Hypospadias, Micrognathia, Epispadias, Short m... |
ORPHA:1772 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Carious teeth,... |
OMIM:269300 |
Pycnodysostosis |
|
Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persistence of primary teeth, Delayed er... |
OMIM:265800 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Micrognathia, Ectopic kidney, High, narrow palate, High palate, Short 5th ... |
ORPHA:99413 |
Turner Syndrome |
|
Myocardial infarction, Micrognathia, Ectopic kidney, High, narrow palate, High palate, Short 5th ... |
ORPHA:881 |
Mosaic Monosomy X |
|
Myocardial infarction, Micrognathia, Ectopic kidney, High, narrow palate, High palate, Short 5th ... |
ORPHA:99228 |
Monosomy X |
|
Myocardial infarction, Micrognathia, Ectopic kidney, High, narrow palate, High palate, Short 5th ... |
ORPHA:99226 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor... |
OMIM:258850 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Premature loss of t... |
OMIM:224300 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Acute kidney injury, Oliguria, ST segment depression, Hypotension, Abnorma... |
ORPHA:466650 |
Multiple Synostoses Syndrome 1 |
|
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Short philtrum, L... |
OMIM:186500 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Hepatomegaly, Right ventricular failure, Cardiome... |
ORPHA:1329 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Dpagt1-Cdg |
|
Prolonged QT interval, Hepatomegaly, Arachnodactyly, Intracranial hemorrhage, Camptodactyly, Clin... |
ORPHA:86309 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Renal insufficiency, Abnormal dental enam... |
ORPHA:1031 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, C... |
ORPHA:2769 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... |
OMIM:204690 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Cardiomyopathy |
ORPHA:1177 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Ectopic kidney, Renal cyst, Glossoptosis, High palate, ... |
OMIM:117650 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Shortened QT interval, Nephrolithiasis, Renal cyst, Hyperca... |
ORPHA:99880 |
Parathyroid Carcinoma |
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Renal insufficiency, Renal hamartoma, Shortened QT interval, Nephrolithiasis, Renal cyst, Hyperca... |
ORPHA:143 |
Al Amyloidosis |
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Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Jaw cl... |
ORPHA:85443 |
Congenital Aortic Valve Stenosis |
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Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
Congenital Sialidosis Type 2 |
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Abnormal EKG, Hepatomegaly, Protruding tongue, Gingival overgrowth, Telangiectasia, Hepatosplenom... |
ORPHA:93400 |
Coffin-Lowry Syndrome |
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Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, ... |
OMIM:303600 |
Dextrocardia |
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Abnormal EKG, Congenital hip dislocation, Abnormal rib morphology, Abnormality of the ureter, T-w... |
ORPHA:1666 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Hepatomegaly, Tachycardia, Cardiac shunt, Cardiomegaly, Congestive heart failure, Left ventricula... |
ORPHA:860 |
Cerebellar-Facial-Dental Syndrome |
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Micrognathia, Tapered finger, Dental malocclusion, Alveolar ridge overgrowth, Abnormal T-wave, Sl... |
ORPHA:444072 |
Muscular Dystrophy, Duchenne Type |
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Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia |
OMIM:310200 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
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Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Palpitations, Abno... |
ORPHA:231625 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Abnormal EKG, Cardiomegaly, Right bundle branch block, Pollakisuria, Reduced left ventricular eje... |
ORPHA:268 |
Multiple Endocrine Neoplasia Type 1 |
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Shortened QT interval, Hematemesis, Gingival fibromatosis, Nephrolithiasis, Hypercalciuria, Melen... |
ORPHA:652 |
Dopamine Beta-Hydroxylase Deficiency |
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Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Syncope, Orthostatic sync... |
ORPHA:230 |
Ulbright-Hodes Syndrome |
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Abnormal penis morphology, Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis... |
ORPHA:3404 |
Friedreich Ataxia |
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Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
Cardiac Diverticulum |
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Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... |
ORPHA:1686 |
Craniorachischisis |
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Bifid sternum |
ORPHA:63260 |
Absence Of The Pulmonary Artery |
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Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
Chronic Thromboembolic Pulmonary Hypertension |
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Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
African Trypanosomiasis |
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Abnormal EKG, Pericarditis, Hepatomegaly, Renal insufficiency, Urinary incontinence, Myocarditis,... |
ORPHA:3385 |
Friedreich Ataxia 2 |
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Abnormal EKG, Hammertoe, Concentric hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:601992 |