Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval |
OMIM:220400 |
Long Qt Syndrome 2 |
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Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... |
OMIM:613688 |
Long Qt Syndrome 13 |
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Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... |
OMIM:613485 |
Long Qt Syndrome 10 |
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Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... |
OMIM:611819 |
Long Qt Syndrome 6 |
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Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... |
OMIM:613693 |
Long Qt Syndrome 14 |
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T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... |
OMIM:616247 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
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Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
Atrial Fibrillation, Familial, 9 |
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Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... |
OMIM:613980 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... |
OMIM:192500 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... |
OMIM:607554 |
Long Qt Syndrome 9 |
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Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
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 |
Andersen-Tawil Syndrome |
|
Small hand, Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes, Bidirectiona... |
ORPHA:37553 |
Regional Odontodysplasia |
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Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
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Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... |
OMIM:615441 |
Jervell And Lange-Nielsen Syndrome 2 |
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Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... |
OMIM:612347 |
Sick Sinus Syndrome 1 |
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Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Small hand, Toe syndactyly, Bidirectional ventricular ectopy, Micrognathia, High palate, Short fo... |
OMIM:170390 |
Progressive Familial Heart Block, Type Ib |
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Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
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Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
Cardiac Arrhythmia, Ankyrin-B-Related |
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Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... |
OMIM:601494 |
Long Qt Syndrome 16 |
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Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia |
OMIM:618782 |
Myofibrillar Myopathy 10 |
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Mandibular prognathia, Increased QRS voltage, Sandal gap, Left ventricular hypertrophy, Flexion c... |
OMIM:619040 |
Long Qt Syndrome 5 |
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Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
Long Qt Syndrome 15 |
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Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... |
OMIM:616249 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Left... |
OMIM:163800 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
Sick Sinus Syndrome 4 |
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Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... |
OMIM:618052 |
Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... |
OMIM:603830 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... |
OMIM:617047 |
Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... |
ORPHA:101016 |
Tako-Tsubo Cardiomyopathy |
|
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... |
ORPHA:66529 |
Timothy Syndrome |
|
Atrioventricular block, Microdontia, Cardiomegaly, Thin upper lip vermilion, Pulmonary arterial h... |
OMIM:601005 |
Dentin Dysplasia, Type I |
|
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... |
OMIM:125400 |
Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Bowing of the long bo... |
ORPHA:2501 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval |
ORPHA:90647 |
Brugada Syndrome 3 |
|
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... |
OMIM:611875 |
3-Methylglutaconic Aciduria, Type V |
|
3-Methylglutaric aciduria, Hypospadias, Dilated cardiomyopathy, Congestive heart failure, 3-Methy... |
OMIM:610198 |
Dental Ankylosis |
|
Abnormal dental enamel morphology, Clinodactyly of the 5th finger, Mandibular prognathia, Tooth a... |
ORPHA:1077 |
Short Qt Syndrome 1 |
|
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... |
OMIM:609620 |
Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... |
ORPHA:49042 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
Cirrhotic Cardiomyopathy |
|
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... |
ORPHA:57777 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... |
OMIM:617297 |
Short Qt Syndrome 7 |
|
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death |
OMIM:620231 |
Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
Neonatal Lupus Erythematosus |
|
Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori... |
ORPHA:398124 |
Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Low urinary cyclic AMP response to PTH administration, Enamel hypoplas... |
ORPHA:94089 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... |
OMIM:204700 |
Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
Amelogenesis Imperfecta, Type Ia |
|
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:104530 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... |
ORPHA:83451 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... |
OMIM:166750 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Left ventricular hypertrophy, Hypercalciuria, Prolonged QT interval, Intracranial hemo... |
ORPHA:251274 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... |
OMIM:614049 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... |
ORPHA:45452 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... |
OMIM:125500 |
Pyle Disease |
|
Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persistence of primary teeth,... |
OMIM:265900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... |
ORPHA:90065 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... |
OMIM:204650 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... |
OMIM:616221 |
Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Carious teeth, Microretrognathia, Tooth agenesis, Small epiphyses, Genu va... |
OMIM:618363 |
Wolff-Parkinson-White Syndrome |
|
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... |
OMIM:194200 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
2-3 toe cutaneous syndactyly, Downturned corners of mouth, Micrognathia, Narrow mouth, Thin upper... |
OMIM:620029 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
Autoimmune Hypoparathyroidism |
|
Ventricular arrhythmia, Calcium nephrolithiasis, Abnormal left ventricular function, Prolonged QT... |
ORPHA:36913 |
Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... |
ORPHA:1344 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrioventricular block, Dilated cardiomyopathy, Hepatomegaly, Arrhythmia, Ventricular tachycardia... |
ORPHA:26793 |
Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
Brugada Syndrome 4 |
|
Atrial fibrillation, Syncope, Shortened QT interval |
OMIM:611876 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
Rett Syndrome |
|
Abnormality of the dentition, Short foot, Prolonged QTc interval, Abnormal T-wave |
OMIM:312750 |
Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Broad thumb, Toe syndactyly, Finger syndactyly, Hepatomegaly, Short... |
ORPHA:373 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... |
OMIM:611528 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
Muscular Dystrophy, Becker Type |
|
Arrhythmia, Cardiomyopathy, Abnormal EKG |
OMIM:300376 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Otodental Syndrome |
|
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... |
ORPHA:2791 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Muscular Dystrophy, Cardiac Type |
|
Carnosinuria, Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... |
OMIM:608751 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Elevated urinary creatine/creatinine ratio, Mandibular prognathia, Malar f... |
OMIM:300352 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
Pseudohypoparathyroidism Type 1C |
|
Short fifth metatarsal, Broad distal phalanx of the thumb, Short 3rd metacarpal, Delayed eruption... |
ORPHA:79444 |
Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Hepatomegaly, Prolonged QT interval, Bradycardia, Atrial fibrillation, Tachycardia |
OMIM:613327 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia |
OMIM:104510 |
Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Acute kidney injury, Prolonged QRS complex, Ischemic st... |
ORPHA:90068 |
Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
Ethylene Glycol Poisoning |
|
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Renal tubular dysfunction, Hem... |
ORPHA:31826 |
17Q24.2 Microdeletion Syndrome |
|
Tooth malposition, Broad thumb, Upper limb undergrowth, Micrognathia, Vesicoureteral reflux, Thin... |
ORPHA:529962 |
Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, 3-Methylglutaconic aciduria, Prolonged QT interval, Perineal hypospadias,... |
ORPHA:66634 |
Drug-Induced Lupus Erythematosus |
|
Hematuria, Prolonged QTc interval, Pericarditis |
ORPHA:231111 |
Pseudohypoparathyroidism Type 1A |
|
Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Short 3rd metaca... |
ORPHA:79443 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Arrhythmia, Ketonuria, Abnormal EKG |
ORPHA:480864 |
Gitelman Syndrome |
|
Hypotension, Hypocalciuria, Enuresis, Renal magnesium wasting, Palpitations, Ventricular tachycar... |
OMIM:263800 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Abnormal metacarpal mo... |
ORPHA:1452 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Torsade de pointes, Hypertrophic cardiomyopathy, Myoglobinuria, Ventricular tachycardi... |
OMIM:616878 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Medullary nephrocalcinosis, Genu valgum, Hyperphosphaturia, Coxa valga, Hypoplasia... |
OMIM:613312 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... |
ORPHA:1028 |
Brugada Syndrome 7 |
|
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... |
OMIM:613120 |
Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... |
OMIM:615916 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Myoglobinuria, Prolon... |
ORPHA:71212 |
Gitelman Syndrome |
|
Focal segmental glomerulosclerosis, Urinary incontinence, Enuresis, Prominent U wave, Renal potas... |
ORPHA:358 |
Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:613243 |
Thyrotoxic Periodic Paralysis |
|
Second degree atrioventricular block, Urinary retention, Palpitations, Shortened PR interval, Dec... |
ORPHA:79102 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Horseshoe kidney, Micrognathia, Short 4th metacarpal, Chordee, Hallux valgus, Penoscrotal hypospa... |
ORPHA:1772 |
Craniometadiaphyseal Dysplasia |
|
Carious teeth, Natal tooth, Absent paranasal sinuses, Flared metaphysis, Broad long bones, Dental... |
OMIM:269300 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... |
OMIM:609040 |
Pycnodysostosis |
|
Aplastic clavicle, Narrow palate, Carious teeth, Persistence of primary teeth, Micrognathia, Dela... |
OMIM:265800 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Genu valgum, Micrognathia, Splayed toes, High palate, Ectopic kidney, Abnormal forearm bone morph... |
ORPHA:99413 |
Turner Syndrome |
|
Genu valgum, Micrognathia, Splayed toes, High palate, Ectopic kidney, Abnormal forearm bone morph... |
ORPHA:881 |
Mosaic Monosomy X |
|
Genu valgum, Micrognathia, Splayed toes, High palate, Ectopic kidney, Abnormal forearm bone morph... |
ORPHA:99228 |
Monosomy X |
|
Genu valgum, Micrognathia, Splayed toes, High palate, Ectopic kidney, Abnormal forearm bone morph... |
ORPHA:99226 |
Coronary Arterial Fistula |
|
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... |
ORPHA:2041 |
Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Prolonged PR ... |
ORPHA:99106 |
Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Nephropathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... |
ORPHA:330001 |
Orofaciodigital Syndrome Iii |
|
Bifid uvula, Postaxial foot polydactyly, Microdontia, Short sternum, Postaxial hand polydactyly, ... |
OMIM:258850 |
Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal pulse pressure, Acute kidney injury, Sinus tachycardia, Oliguria, Abnormal ... |
ORPHA:466650 |
Cardiogenic Shock |
|
Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ... |
ORPHA:97292 |
Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha... |
OMIM:186500 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... |
ORPHA:1329 |
Dysosteosclerosis |
|
Short diaphyses, Broad femoral neck, Natal tooth, Flared metaphysis, Absent paranasal sinuses, De... |
OMIM:224300 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... |
ORPHA:563 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Dpagt1-Cdg |
|
Clinodactyly, Arachnodactyly, Hepatomegaly, Camptodactyly, Prolonged QT interval, Intracranial he... |
ORPHA:86309 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension |
OMIM:615378 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi... |
ORPHA:2751 |
Enamel-Renal Syndrome |
|
Nephropathy, Nephrocalcinosis, Hypocalciuria, Yellow-brown discoloration of the teeth, Delayed er... |
ORPHA:1031 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Tooth malposition, Bifid femur, Carious teeth, Mandibular prognathia, Failure ... |
ORPHA:2769 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Nephrocalcinosis, Delayed eruption of permanent teeth, Gingiva... |
OMIM:204690 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG |
ORPHA:1177 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Renal hamartoma, Shortened QT interval, Renal insufficiency, Nephrolithiasis, R... |
ORPHA:99880 |
Cerebrocostomandibular Syndrome |
|
Carious teeth, Cleft soft palate, Micrognathia, Short hard palate, High palate, Ectopic kidney, P... |
OMIM:117650 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Abnormality of the dentition, Angular cheilitis, Abnormal EKG |
OMIM:613102 |
Parathyroid Carcinoma |
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Nephrocalcinosis, Renal hamartoma, Shortened QT interval, Renal insufficiency, Nephrolithiasis, R... |
ORPHA:143 |
Al Amyloidosis |
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Macroglossia, Gastrointestinal hemorrhage, Nephrotic syndrome, Postural hypotension with compensa... |
ORPHA:85443 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
Congenital Aortic Valve Stenosis |
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Aortic valve stenosis, Abnormal pulse pressure, Increased QRS voltage, Abnormal T-wave, Reduced l... |
ORPHA:3093 |
Congenital Sialidosis Type 2 |
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Abnormal EKG, Hepatosplenomegaly, Gingival overgrowth, Protruding tongue, Polydactyly, Telangiect... |
ORPHA:93400 |
Coffin-Lowry Syndrome |
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Narrow palate, Bifid sternum, Dental malocclusion, Thick lower lip vermilion, Widely spaced teeth... |
OMIM:303600 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Congestive heart failure, Abnormal QRS complex, Heart murmur, Cardiomegaly, Abnormality of blood ... |
ORPHA:860 |
Dextrocardia |
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Congenital hip dislocation, Abnormal EKG, Abnormality of the ureter, T-wave inversion, Abnormal r... |
ORPHA:1666 |
Cerebellar-Facial-Dental Syndrome |
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Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slender long bone, Long ... |
ORPHA:444072 |
Muscular Dystrophy, Duchenne Type |
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Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia |
OMIM:310200 |
Yunis-Varon Syndrome |
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Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Aplasi... |
ORPHA:3472 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
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Epistaxis, Abnormal T-wave, Palpitations, Increased urinary potassium, Intracranial hemorrhage, H... |
ORPHA:231625 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Abnormal EKG, Reduced left ventricular ejection fraction, Right bundle branch block, Cardiomegaly... |
ORPHA:268 |
Multiple Endocrine Neoplasia Type 1 |
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Shortened QT interval, Nephrolithiasis, Hypercalciuria, Hematemesis, Melena, Gingival fibromatosi... |
ORPHA:652 |
Dopamine Beta-Hydroxylase Deficiency |
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Orthostatic syncope, Elevated urinary dopamine level, Abnormal EKG, Syncope, Orthostatic hypotens... |
ORPHA:230 |
Friedreich Ataxia |
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Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure |
OMIM:229300 |
Ulbright-Hodes Syndrome |
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Thin ribs, Abnormal penis morphology, Renal hypoplasia, Abnormal forearm bone morphology, Fibular... |
ORPHA:3404 |
Cardiac Diverticulum |
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Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre... |
ORPHA:1686 |
Craniorachischisis |
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Bifid sternum |
ORPHA:63260 |
Noonan Syndrome |
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Abnormal EKG, Hypertrophic cardiomyopathy, Thick lower lip vermilion, Micrognathia, Radioulnar sy... |
ORPHA:648 |
Absence Of The Pulmonary Artery |
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Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... |
ORPHA:980 |
Chronic Thromboembolic Pulmonary Hypertension |
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Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... |
ORPHA:70591 |
African Trypanosomiasis |
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Urinary incontinence, Second degree atrioventricular block, Third degree atrioventricular block, ... |
ORPHA:3385 |
Friedreich Ataxia 2 |
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Congestive heart failure, Hammertoe, Abnormal EKG, Concentric hypertrophic cardiomyopathy |
OMIM:601992 |