Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Cataract, Elevated circulating creatine kinase c... |
OMIM:615184 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Optic atrophy from cranial nerve compressio... |
OMIM:239100 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Hyperostosis Corticalis Generalisata |
|
Facial palsy, Generalized osteosclerosis, Sensorineural hearing impairment, Cranial hyperostosis,... |
ORPHA:3416 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Failure to thrive, Clavicular sclerosis |
OMIM:615198 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Facial palsy, Craniosynostosis, Optic atrophy, Hearing impairment |
ORPHA:178377 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo... |
OMIM:241520 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Sensorineural hearing impair... |
ORPHA:2790 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, Sensorineural hearing im... |
ORPHA:3152 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic... |
OMIM:136300 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia |
ORPHA:46532 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:255100 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Papilledema, Cortical sclerosis, Craniofacial osteosclerosis, Optic at... |
OMIM:122860 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Osteopetrosis, Conductive hearing impairment, Calvarial osteosclerosi... |
OMIM:607634 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... |
ORPHA:45452 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity |
OMIM:618406 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, General... |
OMIM:166600 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response |
OMIM:617028 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... |
ORPHA:90064 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Pal... |
ORPHA:276556 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Pal... |
ORPHA:276575 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... |
ORPHA:300751 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sensorineural hearing impairment, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavic... |
OMIM:144750 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Small for gestational age, Large for gestational age, Decreased circulating free fat... |
ORPHA:324575 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Cranial nerve... |
ORPHA:210110 |
Ravine Syndrome |
|
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight |
ORPHA:99852 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia |
OMIM:221400 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiomyopathy, Incre... |
ORPHA:276580 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total... |
ORPHA:90037 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Irri... |
OMIM:616881 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... |
OMIM:611705 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, Abnorma... |
ORPHA:263297 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Posterior subcapsular cataract, ... |
OMIM:602668 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture |
OMIM:620366 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Coproporphyria, Hereditary |
|
Splenomegaly, Tachycardia, Hypertension |
OMIM:121300 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:91547 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Tachycardia, Palpitations, Weight loss |
OMIM:188580 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Tachycardia, Failure to thrive in infancy, Elevated c... |
ORPHA:264675 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Small for gestational age, Elevated circulating creatine kina... |
ORPHA:26793 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Increased bone mineral density, Facial palsy, Recurrent fractures, Optic atrop... |
OMIM:611490 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating creatine kinase concentration, Cardiac arrest, Ventricular tachycardia, Atri... |
OMIM:212138 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Lipodystrophy, Elevated cir... |
OMIM:613327 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis, Hearing impairment |
OMIM:167250 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia, Elevated circulating creatine kinase concentrati... |
OMIM:600649 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Facial palsy, Sensorineural hearing impairment, Osteopetrosis, Conduct... |
ORPHA:1522 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... |
ORPHA:449285 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... |
OMIM:612158 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Failure to thrive, Facial palsy, Craniosynostosis,... |
OMIM:259700 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hereditary Coproporphyria |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Atypical scarring of ski... |
ORPHA:79273 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Abnor... |
ORPHA:848 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Congestive he... |
OMIM:300257 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Highly elevated creatine kinase, Hypertrophic cardiomyopathy, Tachycardia, Elevated circulating c... |
ORPHA:368 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613424 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... |
ORPHA:90647 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... |
ORPHA:52368 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Increased total bilirubin |
ORPHA:90036 |
Tularemia |
|
Tachycardia, Leukocytosis, Anemia, Conjunctivitis, Conjunctival hyperemia, Thrombocytopenia |
ORPHA:3392 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Increased body weight |
ORPHA:276608 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Tachycardia, Weight loss |
OMIM:613239 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hearing impairmen... |
ORPHA:1782 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... |
OMIM:613873 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia, Elevated circulating creatine kinase concentration |
ORPHA:3299 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Limitation of joint mobility, Abnormal vertebral segmentation and... |
ORPHA:90650 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171420 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Generalized osteoscle... |
ORPHA:53 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... |
ORPHA:137675 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Osteopetrosis, Dystonia |
ORPHA:3240 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... |
ORPHA:57777 |
Diastrophic Dysplasia |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Camptodactyly of finger, Joint... |
ORPHA:628 |
Autoimmune Hypoparathyroidism |
|
Irritability, Increased bone mineral density, Laryngeal dystonia, Depression |
ORPHA:36913 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Posteriorly rotated ears, Congenital sensorineural hearing impair... |
OMIM:617306 |
Pheochromocytoma |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Developmental cataract... |
OMIM:171300 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... |
ORPHA:542323 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Facial palsy, Optic atrophy, Osteopetrosis |
OMIM:615085 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Hyperpepsinogenemia I, Cardiom... |
OMIM:615745 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial nerve compression, Cranial ... |
OMIM:259710 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, C... |
ORPHA:1764 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Obesity |
OMIM:619737 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Sepsis In Premature Infants |
|
Tachycardia, Small for gestational age, Elevated circulating C-reactive protein concentration, Sp... |
ORPHA:90051 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Fasciitis, Tachycardia, Elevated circulating creatine kinase concentration, Myocarditis, E... |
ORPHA:36234 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia... |
OMIM:601005 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Flexion contracture, Interphalangeal thumb joint contracture |
OMIM:613870 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Hypertensive crisis, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Failure to thrive, Right ventricular failure, Thi... |
ORPHA:1329 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Tremor, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Splenic rupture, Internal hemorrhage, Developmental cataract |
ORPHA:335 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Large for gestational age, Abnormal circulating fatty-acid concentration, Increased ... |
ORPHA:263455 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ventricular tachycardia, Hyperammonemia, Cardio... |
ORPHA:159 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Chronic lymphat... |
ORPHA:90033 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Sensorineural hearing... |
OMIM:239000 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Tachycardia, Hypotension |
ORPHA:79155 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... |
OMIM:613690 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Small for gestational age, Cardiac shunt, Congestive heart failure, Left ventricular... |
ORPHA:860 |
Porphyria Variegata |
|
Hyponatremia, Tachycardia, Scarring, Abnormal circulating porphyrin concentration, Hypertension, ... |
ORPHA:79473 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... |
ORPHA:98855 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating creatine kinase concentration, Cardiac arrest, Elevated circulating acylcarn... |
OMIM:616878 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Graft Versus Host Disease |
|
Fasciitis, Dupuytren contracture, Lipodystrophy, Tachycardia, Hepatosplenomegaly, Hemophagocytosi... |
ORPHA:39812 |
Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Hyperkalemia, Ventricular tachycardia, Premature ventricula... |
ORPHA:423 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Cranial nerve compression, Diaphyseal sclerosis, Cortical thicken... |
OMIM:131300 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart failure, Th... |
ORPHA:49827 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Elevated circulating creatine kinase concentration, Ankle flexion contra... |
OMIM:617072 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Increase... |
ORPHA:77297 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Failure to thrive, Optic nerve hypoplasia, Irritability, Joint cont... |
OMIM:617864 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... |
ORPHA:98853 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Failure to thrive, Small for gestational age, Rec... |
OMIM:193700 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Diaphyseal sclerosis, Depression, Irritability, Increased bone de... |
ORPHA:94089 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
ORPHA:280365 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Anemia |
OMIM:184850 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... |
ORPHA:466677 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Posteriorly rotated ears, Facial palsy, Osteopetrosis, Low-set ea... |
ORPHA:2780 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
Hyperthyroidism, Nonautoimmune |
|
Small for gestational age, Tachycardia, Increased circulating thyroglobulin level |
OMIM:609152 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... |
ORPHA:98863 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi... |
OMIM:300952 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia |
ORPHA:79264 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Hepatospleno... |
ORPHA:505248 |
Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Exaggerated startle response, Flexion contracture |
OMIM:618201 |
High Altitude Pulmonary Edema |
|
Leukocytosis, Tachycardia |
ORPHA:330012 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Mercury Poisoning |
|
Hypertension, Hypokalemia, Tachycardia, Hypotension |
ORPHA:330021 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a... |
ORPHA:97214 |
Beemer-Ertbruggen Syndrome |
|
Low-set, posteriorly rotated ears, Increased bone mineral density |
ORPHA:1237 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Elevated circulating creatine kinase concentration, Sudden cardiac death, Dilated ca... |
OMIM:614921 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P... |
OMIM:263800 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Failure to thrive |
ORPHA:485405 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Conjunctival hyp... |
ORPHA:99826 |
Double Outlet Right Ventricle |
|
Tachycardia, Heart murmur, Hypocalcemia, Pulmonic stenosis, Failure to thrive |
ORPHA:3426 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Optic atrophy, Increased susceptibility t... |
OMIM:224300 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Leukocytosis, Elevated circulating creatinine concent... |
ORPHA:340 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231214 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ... |
ORPHA:542306 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Irrit... |
OMIM:608643 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Dilated cardiomyopathy, Pancytopenia, Cataract, Tachycardia |
OMIM:618321 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormal blood ion concentration, Hypovolemic shock, Hypokalemia, Hypo... |
ORPHA:173 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s... |
ORPHA:763 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Increased bone mineral density, Facial palsy, Cranial hyperostosis, Optic atro... |
OMIM:259720 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment, Depression |
OMIM:620114 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Upper limb postural tremor, Action t... |
ORPHA:99027 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response |
ORPHA:3198 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Tachycardia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Sensorineural hearing impairment, Obesity, Depression, Reduced bo... |
ORPHA:79443 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka... |
ORPHA:31826 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Weight loss, Syncope, Anemia |
ORPHA:71273 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia |
OMIM:614653 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Flexion contracture, Optic atrophy |
OMIM:609541 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension, Mydriasis |
ORPHA:43116 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Abnormal earlobe morphology, L... |
ORPHA:35107 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy |
ORPHA:320406 |
Primary Familial Polycythemia |
|
Epistaxis, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Arrhythmia, Anemia |
ORPHA:139411 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture |
ORPHA:77259 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Elevated circulating creatine kinase con... |
OMIM:618775 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Dystonia |
ORPHA:309246 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Obesity, Depression, Irritability, Ectopic ossification, Laryngea... |
ORPHA:79444 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular ... |
OMIM:612561 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Werner Syndrome |
|
Increased bone mineral density, Osteoporosis, Slender build, Joint stiffness |
ORPHA:902 |
12Q14 Microdeletion Syndrome |
|
Tremor, Osteopoikilosis, Failure to thrive |
ORPHA:94063 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Schwartz-Jampel Syndrome |
|
Low-set, posteriorly rotated ears, Hip contracture, Increased bone mineral density, Abnormally os... |
ORPHA:800 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Resting tremor, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropa... |
ORPHA:909 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Overweight, Persistence of hemoglobin F, Astigmatism, Umbilical hernia |
OMIM:619769 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Failure to thrive, Abnormal pinna morphology, Camptodactyly of fi... |
ORPHA:90652 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated circulating creatine kinase concentration, Left bundle branch block, Arrhythmia, Failure... |
OMIM:610131 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, O... |
OMIM:618476 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... |
ORPHA:355 |
Poems Syndrome |
|
Sclerosis of hand bone, Papilledema, Sclerosis of foot bone, Weight loss, Sclerosis of skull base |
ORPHA:2905 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia |
ORPHA:621 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den... |
OMIM:617052 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Protru... |
ORPHA:33364 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c... |
OMIM:617301 |
Cardiac Diverticulum |
|
Omphalocele, Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart... |
ORPHA:1686 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, Flexion contracture, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis |
OMIM:617877 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Failure to thrive, Foot joint contracture, Tremor, Optic atr... |
ORPHA:90321 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis, Optic nerve compression |
OMIM:259730 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Increased bone mineral density, Small for gestational age, Thickened cortex of long ... |
OMIM:127000 |
Raine Syndrome |
|
Increased bone mineral density, Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinn... |
OMIM:259775 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Failure to thrive, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Facial palsy, Macrotia, Cranial hyperostosis, Limitation of joint... |
ORPHA:2658 |
Sarcoidosis |
|
Hemolytic anemia, Abnormal cardiac ventricular function, Cataract, Eosinophilia, Hypercalcemia, S... |
ORPHA:797 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Sensorineural hearing impairment, Limitation of joi... |
ORPHA:89936 |
Desmosterolosis |
|
Failure to thrive, Posteriorly rotated ears, Generalized osteosclerosis, Cupped ear, Low-set ears... |
OMIM:602398 |
Degcags Syndrome |
|
Osteopenia, Pancytopenia, Tachycardia, Small for gestational age, Craniosynostosis, Congenital hy... |
OMIM:619488 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Limb joint contracture, Hearing impairment |
OMIM:620327 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Small for gestational age, Abnormal auditory evoked potentials, Tremor... |
OMIM:133540 |
Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Optic atrophy, Depression, Dystonia, Limited knee extension... |
ORPHA:845 |
Mirizzi Syndrome |
|
Tachycardia, Hyperbilirubinemia |
ORPHA:521219 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
Acute Intermittent Porphyria |
|
Hyponatremia, Hypertension, Tachycardia |
ORPHA:79276 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Cranial hyperostosis, Imbalan... |
ORPHA:330015 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cataract, Atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardio... |
ORPHA:254892 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Failure to thrive, Optic nerve hypoplasia, Tremor, EEG with burst s... |
OMIM:615574 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Ogden Syndrome |
|
Inguinal hernia, Premature atrial contractions, Ventricular tachycardia, Premature ventricular co... |
OMIM:300855 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin |
ORPHA:423479 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Posteriorly rotated ears, Low-set ears |
OMIM:618598 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... |
ORPHA:980 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Optic atrophy, Optic neuropathy |
OMIM:259900 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Exaggerated startle r... |
ORPHA:521426 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Trisomy 10P |
|
Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss |
ORPHA:35687 |
Cockayne Syndrome A |
|
Hip contracture, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decrease... |
OMIM:216400 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane... |
OMIM:260400 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Low-set ears, Posteriorly rotated ears, Patchy osteosclerosis |
OMIM:241410 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... |
OMIM:261740 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, D... |
ORPHA:124 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia |
ORPHA:79330 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints, Low-set ears |
ORPHA:50945 |
Scalp-Ear-Nipple Syndrome |
|
Cataract, Congestive heart failure, Developmental cataract, Anisocoria, Multiple lipomas, Hyperte... |
OMIM:181270 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, External ear malformation, Patchy osteosclerosis |
ORPHA:2323 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Congenital diaphragmatic hernia, Sclerocornea, Junctional ectopic tachycardia, Peters a... |
OMIM:309801 |
Primary Hyperoxaluria |
|
Optic disc pallor, Recurrent fractures, Generalized osteosclerosis, Optic atrophy, Failure to thrive |
ORPHA:416 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
Sclerosteosis 1 |
|
Papilledema, Facial palsy, Sclerotic scapulae, Optic atrophy, Facial palsy secondary to cranial h... |
OMIM:269500 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Hearing impairment, Increased su... |
OMIM:119600 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... |
ORPHA:79474 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Developmental glaucoma, Tachycardia, Obesity |
ORPHA:1772 |
Developmental And Epileptic Encephalopathy 49 |
|
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy |
OMIM:617281 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Tremor, Reduced bone mineral density, Osteopetrosis, Optic... |
ORPHA:667 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Contractures of the large ... |
OMIM:617527 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Optic nerve compression, Optic atrophy, Osteopetrosis |
OMIM:612301 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia |
ORPHA:99867 |
Williams Syndrome |
|
Osteopenia, Joint laxity, Increased bone mineral density, Low-set, posteriorly rotated ears, Fail... |
ORPHA:904 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
External ear malformation, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, P... |
OMIM:105650 |
Plague |
|
Tachycardia, Hematemesis, Splenomegaly, Hypotension, Arrhythmia, Conjunctival hyperemia, Mydriasis |
ORPHA:707 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing impairment |
ORPHA:79255 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Supraventricular arrhythmia, Congestive heart failure, Osteoporosis, Weight loss, Hyp... |
ORPHA:91347 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Steinert Myotonic Dystrophy |
|
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
Sandhoff Disease |
|
Exaggerated startle response, Orthostatic hypotension |
OMIM:268800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Flexion contracture, Optic atrophy |
OMIM:253800 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Hypsarrhythmia, Opisthotonus, Sclerosis of skull base, Low-set e... |
OMIM:269150 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Failure to thrive, Low-set ears |
ORPHA:401973 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Flexion contracture, Abnormal hemoglobin, Anemia |
ORPHA:847 |
Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Recurrent fractures, Cranial nerve compression, Optic atrophy, Osteopetrosis, ... |
ORPHA:2785 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response, EEG with generalized slow activity |
OMIM:618367 |
Legius Syndrome |
|
Cataract, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Multiple lipomas, Pulmonic ste... |
ORPHA:137605 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Umbilical hernia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Hypoplasia of the thymus, Pul... |
ORPHA:3384 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Tachycardia, Congenital diaphragmatic hernia |
OMIM:618280 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... |
OMIM:620066 |
Marshall-Smith Syndrome |
|
Omphalocele, Large sternal ossification centers, Craniosynostosis, Premature ventricular contract... |
OMIM:602535 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Exaggerated startle response, Optic disc pallor, Osteoporosis, Dystonia |
ORPHA:438213 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... |
ORPHA:99125 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Small earlobe, Jo... |
OMIM:619522 |