Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval |
OMIM:220400 |
Long Qt Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613688 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
Long Qt Syndrome 10 |
|
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... |
OMIM:611819 |
Long Qt Syndrome 6 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613693 |
Long Qt Syndrome 14 |
|
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... |
OMIM:616247 |
Long Qt Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... |
OMIM:192500 |
Atrial Fibrillation, Familial, 9 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... |
OMIM:613980 |
Atrial Fibrillation, Familial, 3 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Sudden cardiac death, Permanent ... |
OMIM:607554 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... |
OMIM:614021 |
Long Qt Syndrome 11 |
|
Prolonged QTc interval, Syncope |
OMIM:611820 |
Brugada Syndrome 9 |
|
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope |
OMIM:616399 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... |
OMIM:611818 |
Andersen-Tawil Syndrome |
|
Prolonged QTc interval, Oligodontia, Renal tubular dysfunction, Abnormal T-wave, Torsade de point... |
ORPHA:37553 |
Regional Odontodysplasia |
|
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... |
ORPHA:83450 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QTc interval, Oligodontia, Short metatarsal, Small finger, Cleft palate, Toe syndactyly... |
OMIM:170390 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... |
OMIM:615441 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... |
OMIM:604559 |
Sick Sinus Syndrome 1 |
|
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, Syndactyly, Sudden cardiac death, ... |
OMIM:618447 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation |
OMIM:600919 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, Bradycardia, Second degree atrioventricular block, T-wave alternans |
OMIM:618782 |
Myofibrillar Myopathy 10 |
|
Prolonged QTc interval, Left ventricular hypertrophy, Mandibular prognathia, Flexion contracture ... |
OMIM:619040 |
Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Sudden cardiac death, C... |
OMIM:601494 |
Long Qt Syndrome 12 |
|
Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation |
OMIM:612955 |
Long Qt Syndrome 5 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... |
OMIM:613695 |
Long Qt Syndrome 15 |
|
Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... |
OMIM:616249 |
Sick Sinus Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Left ventricular hypertro... |
OMIM:163800 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiac arrest, Left ventricular diastolic dysfunction, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
Amelogenesis Imperfecta |
|
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... |
ORPHA:88661 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... |
OMIM:612240 |
Long Qt Syndrome 3 |
|
Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Syncope, Sudden cardiac deat... |
OMIM:603830 |
Dentin Dysplasia, Type I |
|
Oligodontia, Periapical bone loss, Taurodontia, Enamel hypoplasia, Microdontia, Short dental root... |
OMIM:125400 |
Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... |
OMIM:619464 |
Timothy Syndrome |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Microdontia, Cutaneous syndactyly, Atri... |
OMIM:601005 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Sudden cardiac deat... |
OMIM:617047 |
Romano-Ward Syndrome |
|
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Sudden cardiac death, Sinus... |
ORPHA:101016 |
Amelogenesis Imperfecta, Type Ij |
|
Widely spaced teeth, Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Increased overbite |
OMIM:617297 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal chondrodysplasia, Short lower limbs, Abnormality of the dentition, Abnormal metaphysi... |
ORPHA:2501 |
Familial Short Qt Syndrome |
|
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... |
ORPHA:51083 |
Jervell And Lange-Nielsen Syndrome |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Arrhythmia, Ventricular fibrillation |
ORPHA:90647 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... |
OMIM:611875 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, 3-Methylglutaconic aciduria, Sudden cardiac death, Congestive heart... |
OMIM:610198 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, ST segment elevation, Mitral regurgitation, Hypotension, Syncope, Palpita... |
ORPHA:66529 |
Short Qt Syndrome 1 |
|
Cardiac arrest, Paroxysmal atrial fibrillation, Syncope, Palpitations, Shortened QT interval, Sud... |
OMIM:609620 |
Oligodontia |
|
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... |
ORPHA:99798 |
Dental Ankylosis |
|
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis, Clinodactyly of the 5th... |
ORPHA:1077 |
Dentinogenesis Imperfecta |
|
Grayish enamel, Finger joint hypermobility, Abnormal dental pulp morphology, Selective tooth agen... |
ORPHA:49042 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability |
OMIM:614896 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... |
ORPHA:45453 |
Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... |
ORPHA:57777 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation |
OMIM:620231 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... |
OMIM:609621 |
Neonatal Lupus Erythematosus |
|
Abnormal electrophysiology of sinoatrial node origin, Heart block, Arrhythmia, Hepatomegaly, Atri... |
ORPHA:398124 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion, Carious teet... |
OMIM:204700 |
Brugada Syndrome |
|
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... |
ORPHA:130 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Amelogenesis imperfecta, Taurodontia, Enamel hypoplasia, Generalized microdontia |
OMIM:104530 |
Florid Cemento-Osseous Dysplasia |
|
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... |
ORPHA:83451 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Periapical bone loss, Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Otodental Dysplasia |
|
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Long philtrum, Delayed eru... |
OMIM:166750 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Arrhythmia, Prolonged QT interval |
ORPHA:2151 |
Pyle Disease |
|
Absent paranasal sinuses, Hypoplastic frontal sinuses, Metaphyseal widening, Mandibular prognathi... |
OMIM:265900 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... |
ORPHA:45452 |
Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... |
OMIM:614049 |
Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Hypertension, Intracranial hemorrhage, Hypercalciuria, Epistaxis, P... |
ORPHA:251274 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Prolonged QTc interval, Cerebral hemorrhage, Left ventricular hypertrophy, Syncope, Ischemic stro... |
ORPHA:90065 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Thistle tube shaped pulp, Pulp calcification |
OMIM:125420 |
Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion,... |
OMIM:204650 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... |
OMIM:616221 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Wolff-Parkinson-White Syndrome |
|
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... |
OMIM:194200 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Camptodactyly, Pulmonary arterial hypertension, 3-4 finger cutaneous syndactyly, Cutaneous syndac... |
OMIM:620029 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Tooth agenesis, Flattened epiphysis, Advanced ossification of carpal bones, Coxa val... |
OMIM:618363 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Ventricular arrhythmia, Prolonged QT interval, Calcium nephro... |
ORPHA:36913 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular tachycardia, Tachycardia, Arrhythmia, Hepatomegaly, Atrioventricular block, Dilated c... |
ORPHA:26793 |
Atrial Standstill |
|
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... |
ORPHA:1344 |
Brugada Syndrome 4 |
|
Syncope, Atrial fibrillation, Shortened QT interval |
OMIM:611876 |
Rett Syndrome |
|
Prolonged QTc interval, Abnormal T-wave, Abnormality of the dentition, Short foot |
OMIM:312750 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... |
OMIM:604400 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Hydroureter, Cardiomyopathy, Hepatomegaly, Cleft palate, Toe syndactyly,... |
ORPHA:373 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Hypomature enamel, Yellow-brown discolo... |
OMIM:612529 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Cardiomyopathy, Arrhythmia |
OMIM:300376 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Amelogenesis imperfecta, Yel... |
OMIM:618386 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... |
OMIM:600858 |
Otodental Syndrome |
|
Abnormal dental pulp morphology, Agenesis of premolar, Taurodontia, Abnormal dental enamel morpho... |
ORPHA:2791 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... |
OMIM:611528 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy, Carnosinuria |
OMIM:309930 |
Pseudohypoparathyroidism Type 1B |
|
Diaphyseal sclerosis, Cortical subperiosteal resorption of humeral metaphyses, Enamel hypoplasia,... |
ORPHA:94089 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Palpita... |
OMIM:608751 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... |
OMIM:610193 |
Amelogenesis Imperfecta, Type If |
|
Abnormality of dental color, Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
Pseudohypoparathyroidism Type 1C |
|
Short fifth metatarsal, Broad distal phalanx of the thumb, Short metatarsal, Short 4th metacarpal... |
ORPHA:79444 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Enamel hypoplasia, Oral mucosal blisters, Hypodontia, Carious teeth |
OMIM:226650 |
Cocaine Intoxication |
|
Subarachnoid hemorrhage, Prolonged QRS complex, Proteinuria, Glomerulonephritis, Diffuse alveolar... |
ORPHA:90068 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Left ventricular hypertrophy, Palpitation... |
OMIM:608758 |
Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Abnormal dentin morphology, Anterior open-bite malocc... |
OMIM:301200 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Tachycardia, Hepatomegaly, Splenomegaly, Bradycardia, Prolonged QT interval, Atrial fibrillation |
OMIM:613327 |
Ethylene Glycol Poisoning |
|
Decreased urine output, Hypotension, Tachycardia, Renal insufficiency, Hypertension, Renal tubula... |
ORPHA:31826 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Malar flattening, Mandibular prognathia, Prolonged QT interval |
OMIM:300352 |
Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Pericarditis, Hematuria |
ORPHA:231111 |
Pseudohypoparathyroidism Type 1A |
|
Short fifth metatarsal, Broad distal phalanx of the thumb, Short metatarsal, Hypertension, Short ... |
ORPHA:79443 |
Dilated Cardiomyopathy With Ataxia |
|
Perineal hypospadias, Hypoplasia of penis, Dilated cardiomyopathy, 3-Methylglutaconic aciduria, P... |
ORPHA:66634 |
Gitelman Syndrome |
|
Enuresis, Ventricular tachycardia, Hypotension, Renal magnesium wasting, Palpitations, Polyuria, ... |
OMIM:263800 |
Pseudohypoparathyroidism Type 2 |
|
Low urinary cyclic AMP response to PTH administration, Prolonged QT interval |
ORPHA:94090 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Abnormal EKG, Prolonged QT interval, Arrhythmia, Ketonuria |
ORPHA:480864 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Myoglobinuri... |
OMIM:616878 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Pulmonic stenosis, Genu varum, Hypoplasia of teeth, Coxa valga, Medullary nephrocalcinosis, Cario... |
OMIM:613312 |
Brugada Syndrome 7 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... |
OMIM:613120 |
Cleidocranial Dysplasia |
|
Cleft palate, Supernumerary tooth, Carious teeth, Brachydactyly, Coxa vara, Down-sloping shoulder... |
ORPHA:1452 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Tooth agenesis, Abnormal dental enamel morphology, Abnormality of dental morphology, Everted lowe... |
ORPHA:1028 |
17Q24.2 Microdeletion Syndrome |
|
Tooth malposition, Pulmonic stenosis, Broad thumb, Thin upper lip vermilion, Upper limb undergrow... |
ORPHA:529962 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... |
OMIM:615916 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolon... |
ORPHA:71212 |
Gitelman Syndrome |
|
Raynaud phenomenon, Enuresis, Abnormal T-wave, Proteinuria, Tubulointerstitial nephritis, Decreas... |
ORPHA:358 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... |
ORPHA:85451 |
Thyrotoxic Periodic Paralysis |
|
Urinary retention, Decreased urinary potassium, Palpitations, Impaired myocardial contractility, ... |
ORPHA:79102 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... |
OMIM:613243 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Right ventricular c... |
OMIM:609040 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
High palate, Hallux valgus, Micropenis, Tachycardia, Penoscrotal hypospadias, Horseshoe kidney, E... |
ORPHA:1772 |
Pycnodysostosis |
|
Osteolytic defects of the distal phalanges of the hand, Persistence of primary teeth, Delayed eru... |
OMIM:265800 |
Craniometadiaphyseal Dysplasia |
|
Absent paranasal sinuses, High palate, Genu varum, Malar flattening, Broad ribs, Coxa valga, Mand... |
OMIM:269300 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hip dysplasia, Horseshoe kidney, Short toe, Short 5th metacarpal, Myocardial infarction, Short st... |
ORPHA:99413 |
Turner Syndrome |
|
Hip dysplasia, Horseshoe kidney, Short toe, Short 5th metacarpal, Myocardial infarction, Short st... |
ORPHA:881 |
Mosaic Monosomy X |
|
Hip dysplasia, Horseshoe kidney, Short toe, Short 5th metacarpal, Myocardial infarction, Short st... |
ORPHA:99228 |
Monosomy X |
|
Hip dysplasia, Horseshoe kidney, Short toe, Short 5th metacarpal, Myocardial infarction, Short st... |
ORPHA:99226 |
Coronary Arterial Fistula |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, Sy... |
ORPHA:2041 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Ventricular fibrillation, Paroxysmal ventricular tachycardia, T-wave invers... |
OMIM:613507 |
Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment |
ORPHA:1055 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Proteinuria, Arrhythmia, Renal insufficiency, Hepatomegaly, Nephropathy, Nephrotic ... |
ORPHA:330001 |
Orofaciodigital Syndrome Iii |
|
Postaxial foot polydactyly, Bifid uvula, Microdontia, Tongue nodules, Postaxial hand polydactyly,... |
OMIM:258850 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
Cardiogenic Shock |
|
Cardiac arrest, Abnormal EKG, ST segment elevation, Mitral regurgitation, Hypotension, Elevated j... |
ORPHA:97292 |
Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Atrial fibrillation, Pulmonary arterial hypertension, Third heart sound,... |
ORPHA:99106 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal T-wave, Acute kidney injury, Hypotension, Sinus tachycardia, Abnormal pulse pressure, ST... |
ORPHA:466650 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Third heart sound, Systolic heart murmur, Elevated jugular venous pressure, Pulmona... |
ORPHA:1329 |
Dysosteosclerosis |
|
Absent paranasal sinuses, Oligodontia, Abnormal metaphyseal trabeculation, Premature loss of teet... |
OMIM:224300 |
Peripartum Cardiomyopathy |
|
Myocarditis, Pulmonary arterial hypertension, Abnormal T-wave, Mitral regurgitation, Ventricular ... |
ORPHA:563 |
Multiple Synostoses Syndrome 1 |
|
Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Asymmetry of th... |
OMIM:186500 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiom... |
OMIM:612422 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Dpagt1-Cdg |
|
Camptodactyly, Intracranial hemorrhage, Hepatomegaly, Clinodactyly, Arachnodactyly, Prolonged QT ... |
ORPHA:86309 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval |
OMIM:615378 |
Enamel-Renal Syndrome |
|
Enuresis, Nephrocalcinosis, Renal insufficiency, Amelogenesis imperfecta, Abnormal dental enamel ... |
ORPHA:1031 |
Familial Osteodysplasia, Anderson Type |
|
Tooth malposition, Malar flattening, Missing ribs, Hypertension, Bifid femur, Mandibular prognath... |
ORPHA:2769 |
Amelogenesis Imperfecta, Type Ig |
|
Enuresis, Dagger-shaped pulp calcifications, Nephrocalcinosis, Renal insufficiency, Amelogenesis ... |
OMIM:204690 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Cardiomyopathy |
ORPHA:1177 |
Orofaciodigital Syndrome Type 2 |
|
Y-shaped metacarpals, Polysyndactyly of hallux, Short tibia, Preaxial foot polydactyly, Cleft pal... |
ORPHA:2751 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal hamartoma, Nephrocalcinosis, Renal cyst, Mandibular pain, Renal insufficiency, Shortened QT... |
ORPHA:99880 |
Cerebrocostomandibular Syndrome |
|
Horseshoe kidney, Cleft palate, Carious teeth, 11 pairs of ribs, Malar flattening, 10 pairs of ri... |
OMIM:117650 |
Al Amyloidosis |
|
Macroglossia, Abnormal EKG, Proteinuria, Reduced left ventricular ejection fraction, Abnormal sal... |
ORPHA:85443 |
Parathyroid Carcinoma |
|
Renal hamartoma, Nephrocalcinosis, Renal cyst, Mandibular pain, Renal insufficiency, Shortened QT... |
ORPHA:143 |
Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Abnorm... |
ORPHA:3093 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Congenital Sialidosis Type 2 |
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Hepatosplenomegaly, Abnormal EKG, Polydactyly, Hepatomegaly, Protruding tongue, Telangiectasia, G... |
ORPHA:93400 |
Coffin-Lowry Syndrome |
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Open mouth, Bifid sternum, Mitral regurgitation, High palate, Widely spaced teeth, Coxa valga, Sh... |
OMIM:303600 |
Dextrocardia |
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Abnormal EKG, Congenital hip dislocation, Abnormality of the ureter, Abnormal rib morphology, T-w... |
ORPHA:1666 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Abnormality of blood circulation, Left ventricular outflow tract obstruction, Hepatomegaly, Right... |
ORPHA:860 |
Cerebellar-Facial-Dental Syndrome |
|
Hydronephrosis, Abnormal T-wave, Ureteropelvic junction obstruction, Taurodontia, Slender long bo... |
ORPHA:444072 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy |
OMIM:310200 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
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Abnormal T-wave, Increased urinary potassium, Palpitations, Hypertension, Intracranial hemorrhage... |
ORPHA:231625 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Right ventricular hypertrophy, Cardiome... |
ORPHA:268 |
Multiple Endocrine Neoplasia Type 1 |
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Hypertension, Gingival fibromatosis, Shortened QT interval, Hypercalciuria, Nephrolithiasis, Mele... |
ORPHA:652 |
Dopamine Beta-Hydroxylase Deficiency |
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Abnormal EKG, Syncope, Orthostatic syncope, Elevated urinary dopamine, Orthostatic hypotension, N... |
ORPHA:230 |
Ulbright-Hodes Syndrome |
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Short humerus, High palate, Polycystic kidney dysplasia, Abnormal forearm bone morphology, Phocom... |
ORPHA:3404 |
Friedreich Ataxia |
|
Abnormal EKG, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:229300 |
Cardiac Diverticulum |
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Abnormal EKG, Ventricular tachycardia, Left ventricular hypertrophy, Syncope, Palpitations, Arrhy... |
ORPHA:1686 |
Craniorachischisis |
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Bifid sternum |
ORPHA:63260 |
Absence Of The Pulmonary Artery |
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Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ej... |
ORPHA:980 |
Chronic Thromboembolic Pulmonary Hypertension |
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Pulmonary arterial hypertension, Abnormal T-wave, Syncope, Palpitations, Pulmonary embolism, Abno... |
ORPHA:70591 |
African Trypanosomiasis |
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Myocarditis, Abnormal EKG, Hepatosplenomegaly, Arrhythmia, Urinary incontinence, Second degree at... |
ORPHA:3385 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Hammertoe |
OMIM:601992 |