| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval |
OMIM:220400 |
| Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
| Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... |
OMIM:611819 |
| Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
| Long Qt Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... |
OMIM:613980 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Brugada Syndrome 9 |
|
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation |
OMIM:616399 |
| Atrial Fibrillation, Familial, 3 |
|
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... |
OMIM:607554 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
| Melorheostosis With Osteopoikilosis |
|
Hypertension, Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
| Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Long Qt Syndrome 12 |
|
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Refrac... |
OMIM:231095 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
| Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis |
ORPHA:3416 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Syncope, Arrhythmia, Iron deficiency anemia, Prolonged QTc interval, Ventricu... |
ORPHA:90647 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
| Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... |
OMIM:601494 |
| Short Qt Syndrome 1 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... |
OMIM:609620 |
| Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
| Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... |
OMIM:163800 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
| Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal bone ossification, Increased bone mineral density, Sclerosis of foot b... |
ORPHA:166119 |
| Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
| Short Qt Syndrome 7 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation |
OMIM:620231 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Flexion contracture o... |
OMIM:619040 |
| Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... |
OMIM:136300 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
| Melorheostosis |
|
Arthritis, Increased bone mineral density, Joint stiffness, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... |
OMIM:614049 |
| Neonatal Lupus Erythematosus |
|
Anemia, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytopenia, Heart block, Abnorma... |
ORPHA:398124 |
| Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones |
ORPHA:564003 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures |
OMIM:166740 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Concentric hypertrophi... |
OMIM:618052 |
| Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
| Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis |
OMIM:607634 |
| Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Joint stiffness, Knee osteoa... |
ORPHA:566943 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Recurrent fractures, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, O... |
OMIM:611490 |
| Schnitzler Syndrome |
|
Anemia, Increased bone mineral density, Arthritis, Leukocytosis, Splenomegaly, Vasculitis |
ORPHA:37748 |
| Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Generalized os... |
ORPHA:210110 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
| Tako-Tsubo Cardiomyopathy |
|
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... |
ORPHA:66529 |
| Brugada Syndrome 4 |
|
Shortened QT interval, Atrial fibrillation, Syncope |
OMIM:611876 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Dysphagia |
OMIM:611637 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, Clavicular sclerosis, ... |
OMIM:144750 |
| 3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Normochromic microcytic anemia, Dilated cardiomyopathy, Congestive heart fa... |
OMIM:610198 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os... |
OMIM:166600 |
| Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Ventricular arrhythmia, Prolonged QT interval, Abnormal left vent... |
ORPHA:36913 |
| Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,... |
ORPHA:37553 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis |
OMIM:122860 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Joint contracture |
OMIM:615351 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... |
ORPHA:45452 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti... |
ORPHA:90065 |
| Atrial Standstill |
|
Flexion contracture, Right bundle branch block, Ischemic stroke, Mobitz I atrioventricular block,... |
ORPHA:1344 |
| Brugada Syndrome 7 |
|
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Osteomyelitis, Recurrent fractures, Pancytopenia, Decreased osteoclast count, Hepatosplen... |
OMIM:259710 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
| Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
| Timothy Syndrome |
|
Prolonged QT interval, Bradycardia |
OMIM:601005 |
| Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Arrhythmia, Abnormal EKG |
OMIM:300376 |
| Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Anemia, Hepatosplenomegaly, Epistaxis, Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis,... |
OMIM:612840 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
| Paget Disease Of Bone 3 |
|
Osteolysis, Patchy osteosclerosis, Fractures of the long bones |
OMIM:167250 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Flexion contracture, Tachycardia, Prolonged QT interval, Osteopenia, Bradycardia, O... |
OMIM:613327 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Osteomyelitis, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral density, P... |
OMIM:259700 |
| Buschke-Ollendorff Syndrome |
|
Flexion contracture, Recurrent fractures, Arthritis, Osteopoikilosis, Generalized osteosclerosis,... |
ORPHA:1306 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Knee flexion contracture, Sudden cardiac death, Elbow flexion contracture, Achilles tendon contra... |
OMIM:310300 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Dysphagia |
ORPHA:247604 |
| Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Anemia, Osteopetrosis, Splenomegaly |
OMIM:615085 |
| Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Increased bone mineral density, Hypersplenis... |
ORPHA:77259 |
| Albers-Schönberg Osteopetrosis |
|
Anemia, Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular ost... |
ORPHA:53 |
| Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Prolonged QT interval, Intracranial hemorrhage, Hypertension |
ORPHA:251274 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Thrombocytopenia, Prolonged QTc interval, Anemia |
ORPHA:231111 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Head tremor, Abnormal motor neuron morphology, Intention tremor |
OMIM:613724 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... |
ORPHA:94089 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, A... |
ORPHA:26793 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Disinhibition, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Disinhibition, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:616437 |
| Majeed Syndrome |
|
Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Increased bone mineral... |
ORPHA:77297 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... |
OMIM:609040 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prominent U wave, Syncope, Joint laxity, Prolonged QT interval, Palpitations, Bidirectional ventr... |
OMIM:170390 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Abnorma... |
ORPHA:90650 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia |
ORPHA:1055 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
| Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
| Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Abnormal upper motor neuron morphology, Intention tremor, Spinocerebellar atr... |
OMIM:215470 |
| Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... |
OMIM:613507 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn cell morphology, D... |
OMIM:611890 |
| Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation |
OMIM:615378 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypochromic microcytic anemia, Prolonged QT interval, Normochromic microcytic anemia, Dilated car... |
ORPHA:66634 |
| Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Ang... |
ORPHA:85451 |
| Dysosteosclerosis |
|
Increased bone mineral density, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, ... |
ORPHA:1782 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis... |
ORPHA:85188 |
| Diastrophic Dysplasia |
|
Camptodactyly of finger, Increased bone mineral density, Joint stiffness, Joint hyperflexibility |
ORPHA:628 |
| Osteogenesis Imperfecta, Type Xiii |
|
Recurrent fractures, Increased bone mineral density, Joint hypermobility, Limitation of knee mobi... |
OMIM:614856 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
| Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Dysphagia |
OMIM:606353 |
| Cocaine Intoxication |
|
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... |
ORPHA:90068 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Periapical tooth abscess |
ORPHA:3352 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification |
ORPHA:163649 |
| Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Limited elbow movement, Hip osteoarthritis, Increased bone mineral density, Synovitis, Osteoarthr... |
ORPHA:93284 |
| Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
| Primary Lateral Sclerosis |
|
Cervical spinal cord atrophy, Abnormal lower motor neuron morphology, Atrophy of the spinal cord,... |
ORPHA:35689 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Arrhythmia, Prolonged QT interval, Abnormal EKG |
ORPHA:480864 |
| Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Increased bone mineral density, Pancytopenia, Hepatosplenomegaly, Decreased osteoclast co... |
OMIM:259720 |
| Ethylene Glycol Poisoning |
|
Hypotension, Hypertension, Congestive heart failure, Shock, Prolonged QT interval, Tachycardia, A... |
ORPHA:31826 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Joint hypermobility |
OMIM:300352 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular tachycardia, Prolong... |
OMIM:616878 |
| Pseudohypoparathyroidism Type 1A |
|
Ectopic ossification, Hyperostosis frontalis interna, Increased bone mineral density, Hypertensio... |
ORPHA:79443 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Anemia, Osteopetrosis, Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Cr... |
OMIM:259730 |
| Gitelman Syndrome |
|
Abnormal T-wave, Prominent U wave, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST ... |
ORPHA:358 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Prolonged QT interval, Dilated cardiomyopathy |
ORPHA:71212 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pulmonary arterial hypertension, Prolonged QT interval, Flexion contracture, Camptodactyly |
OMIM:620029 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... |
OMIM:601376 |
| Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Prolonged QT interval, Ectopic ossification |
ORPHA:79444 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Increased bone mineral density, Osteopenia |
ORPHA:85184 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Thyrotoxic Periodic Paralysis |
|
Impaired myocardial contractility, Shortened PR interval, Prolonged QT interval, Palpitations, Se... |
ORPHA:79102 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... |
OMIM:112250 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Coarse metaphyseal trabecularization, Facial hyperostosis, Aortic... |
ORPHA:2780 |
| Gitelman Syndrome |
|
Hypotension, Prolonged QT interval, Ventricular tachycardia, Palpitations |
OMIM:263800 |
| Camurati-Engelmann Disease |
|
Anemia, Increased bone mineral density, Cortical thickening of long bone diaphyses, Diaphyseal sc... |
OMIM:131300 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Increased bone mineral density, Ankylosis, Osteopenia, Osteoporosis |
OMIM:239000 |
| Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... |
ORPHA:75565 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis |
OMIM:617306 |
| Werner Syndrome |
|
Increased bone mineral density, Congestive heart failure, Hypertension, Myocardial infarction, Te... |
ORPHA:902 |
| Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... |
ORPHA:2041 |
| Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... |
ORPHA:97292 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, ST segment depression, ... |
ORPHA:466650 |
| Hyperoxaluria, Primary, Type I |
|
Arterial occlusion, Increased bone mineral density, Intermittent claudication, Raynaud phenomenon... |
OMIM:259900 |
| Peripartum Cardiomyopathy |
|
Pulmonary arterial hypertension, Abnormal T-wave, Anemia, Reduced left ventricular ejection fract... |
ORPHA:563 |
| Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Increased susceptibility to fractures, Anemia, Increased bone mi... |
ORPHA:77261 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral density, Rickets of the... |
ORPHA:289176 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal upper motor neuron morphology, Disinhibition, Abnormal lower motor neuron morphology, Dy... |
ORPHA:275872 |
| Dpagt1-Cdg |
|
Anemia, Flexion contracture, Camptodactyly, Intracranial hemorrhage, Prolonged QT interval, Osteo... |
ORPHA:86309 |
| Pycnodysostosis |
|
Increased susceptibility to fractures, Coronal craniosynostosis, Increased bone mineral density, ... |
ORPHA:763 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... |
OMIM:108950 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Pallor of dorsal col... |
OMIM:602433 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Sclerosis of foot bone, Polycythemia, Thrombocytosis, Sclerosis ... |
ORPHA:2905 |
| Dysosteosclerosis |
|
Increased susceptibility to fractures, Sclerotic scapulae, Clavicular sclerosis, Osteopenia, Scle... |
OMIM:224300 |
| Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Flexion contracture, Abnormal EKG, Achilles tendon contracture, Congest... |
OMIM:310200 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Dysphagia |
OMIM:607225 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Splenomegaly |
OMIM:618541 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Retrocollis, Opisthotonus, Abnormal lower motor neuron morphology, Head titubation, Amyotrophic l... |
OMIM:205100 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:613954 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Vertebral fusion, Bundle branch block, Polysplenia, Prolonged QT interva... |
ORPHA:373 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... |
ORPHA:1329 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia, Osteopetrosis |
ORPHA:3240 |
| Atrial Septal Defect, Ostium Primum Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Right bundle branch block, Third heart so... |
ORPHA:99106 |
| Gaucher Disease |
|
Pulmonary arterial hypertension, Splenomegaly, Anemia, Osteomyelitis, Recurrent fractures, Increa... |
ORPHA:355 |
| Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis, Splenomegaly |
ORPHA:35107 |
| Machado-Joseph Disease Type 3 |
|
Dilated fourth ventricle, Degeneration of anterior horn cells, Substantia nigra gliosis, Abnormal... |
ORPHA:276244 |
| Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Multiple joint contractures, Increas... |
ORPHA:33364 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Cardiomyopathy, Abnormal EKG |
ORPHA:1177 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification |
OMIM:618476 |
| Erdheim-Chester Disease |
|
Anemia, Osteomyelitis, Increased bone mineral density, Congestive heart failure, Osteolysis |
ORPHA:35687 |
| Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... |
ORPHA:330001 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
| Atrial Standstill 2 |
|
Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... |
OMIM:615745 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... |
OMIM:606070 |
| X-Linked Hypophosphatemia |
|
Vertebral hyperostosis, Enthesitis, Arthritis, Limitation of joint mobility, Generalized osteoscl... |
ORPHA:89936 |
| Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Increased bone mineral density, Anemia |
OMIM:127000 |
| Primary Hyperoxaluria |
|
Recurrent fractures, Arterial occlusion, Intermittent claudication, Raynaud phenomenon, Generaliz... |
ORPHA:416 |
| 12Q14 Microdeletion Syndrome |
|
Abnormality of the spleen, Osteopoikilosis |
ORPHA:94063 |
| 17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Pulmonic stenosis |
ORPHA:529962 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Transient i... |
ORPHA:99103 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Disinhibition |
OMIM:221770 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypertension, Myocardial infarction, Prolonged QT interval, Osteopenia, Osteoporosis, Reduced bon... |
ORPHA:99413 |
| Turner Syndrome |
|
Hypertension, Myocardial infarction, Prolonged QT interval, Osteopenia, Osteoporosis, Reduced bon... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Hypertension, Myocardial infarction, Prolonged QT interval, Osteopenia, Osteoporosis, Reduced bon... |
ORPHA:99228 |
| Monosomy X |
|
Hypertension, Myocardial infarction, Prolonged QT interval, Osteopenia, Osteoporosis, Reduced bon... |
ORPHA:99226 |
| Schwartz-Jampel Syndrome |
|
Pulmonary arterial hypertension, Wrist flexion contracture, Hip contracture, Increased bone miner... |
ORPHA:800 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Limitation of... |
ORPHA:2658 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis |
ORPHA:52430 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Increased bone mineral density, Synostosis of carpal bones, Carpal synos... |
ORPHA:90652 |
| Congenital Aortic Valve Stenosis |
|
Sudden cardiac death, Abnormal T-wave, Increased QRS voltage, Reduced left ventricular ejection f... |
ORPHA:3093 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia |
ORPHA:93941 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia |
ORPHA:1772 |
| Raine Syndrome |
|
Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita |
OMIM:259775 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Impulsivity, Tremor, Oromandibular dystonia, Cerebellar a... |
OMIM:614298 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval, Osteoporosis |
ORPHA:99880 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Anemia, Osteopetrosis, Splenomegaly |
OMIM:612301 |
| Parathyroid Carcinoma |
|
Shortened QT interval, Osteoporosis |
ORPHA:143 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
| Atypical Werner Syndrome |
|
Osteolytic defects of the phalanges of the hand, Increased bone mineral density, Congestive heart... |
ORPHA:79474 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Limited knee flexion/extension, Right bundle branch block, Limited elbow movement, Reduced left v... |
ORPHA:268 |
| Al Amyloidosis |
|
Anemia, Howell-Jolly bodies, Reduced left ventricular ejection fraction, Abnormal EKG, Hypertroph... |
ORPHA:85443 |
| Desmosterolosis |
|
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand |
OMIM:602398 |
| Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Paucity of anterior horn motor neurons, Choreoathetosis, Hy... |
ORPHA:79139 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Recurrent fractures, Elliptocytosis, Pancyto... |
ORPHA:2785 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased susceptibility to fractures, Reduced bone mineral density, Hypertension, Osteolysis, He... |
ORPHA:652 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Anemia, Recurrent fractures, Osteopetrosis, Craniosynostosis, Sp... |
ORPHA:667 |
| Cleidocranial Dysplasia 1 |
|
Delayed pubic bone ossification, Increased bone mineral density, Increased susceptibility to frac... |
OMIM:119600 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Intracranial hemorrhage, Hypertension, Epistaxis, Palpitations |
ORPHA:231625 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Abnormal EKG, Syncope, Orthostatic hypotension, Orthostatic syncope |
ORPHA:230 |
| Williams Syndrome |
|
Sudden cardiac death, Cerebral ischemia, Increased bone mineral density, Pulmonic stenosis, Radio... |
ORPHA:904 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Resting tremor |
OMIM:601162 |
| Dextrocardia |
|
T-wave inversion, Abnormality of the spleen, Abnormal EKG |
ORPHA:1666 |
| Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal EKG |
OMIM:229300 |
| Congenital Sialidosis Type 2 |
|
Abnormal EKG, Telangiectasia, Hepatosplenomegaly |
ORPHA:93400 |
| Sclerosteosis 1 |
|
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... |
OMIM:269500 |
| Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Syncope, Angina pectoris, Congestive heart failure, Arrhythmia, Pr... |
ORPHA:1686 |
| Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ejection fractio... |
ORPHA:980 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Thickened cortex of long bones, Sclerosis of skull base, Increased density of long bones, Splenop... |
OMIM:269150 |
| African Trypanosomiasis |
|
Third degree atrioventricular block, Abnormal EKG, Congestive heart failure, Hepatosplenomegaly, ... |
ORPHA:3385 |
| Friedreich Ataxia 2 |
|
Congestive heart failure, Concentric hypertrophic cardiomyopathy, Abnormal EKG |
OMIM:601992 |
| Crisponi Syndrome |
|
Camptodactyly of finger, Sudden cardiac death, Flexion contracture, Limitation of joint mobility |
ORPHA:1545 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Limited elbow extension |
OMIM:610313 |
