| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Dyspnea, Right ventricular cardiomyopathy, Syncope, Palpitations, Sudden cardiac death, Ventricul... |
OMIM:610476 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Sudden death,... |
OMIM:602087 |
| His Bundle Tachycardia |
|
Arrhythmia, Junctional ectopic tachycardia, Neoplasm of the heart, Cardiomyopathy |
ORPHA:3283 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Dyspnea, Reduced left ventricular ejectio... |
OMIM:613838 |
| Acute Peripheral Arterial Occlusion |
|
Lower limb pain, Absent ankle pulse, Abnormality of venous physiology, Supraventricular tachycard... |
ORPHA:90064 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Dyspnea, Left ventricular hypertrophy, Pa... |
OMIM:608758 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Paradoxical splitting of the second heart sound, Tricuspid regurgitation, Supraventricular arrhyt... |
ORPHA:99105 |
| Atrial Standstill |
|
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... |
ORPHA:1344 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Right bundle branch block, Left anterior fascicular block, Ventricular tachycardi... |
OMIM:612098 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Ventricular a... |
OMIM:602086 |
| Paroxysmal Extreme Pain Disorder |
|
Ocular pain, Mandibular pain, Anal pain, Rhinorrhea, Bradycardia, Tachycardia |
OMIM:167400 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... |
OMIM:604772 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Fatigue, Splenomegaly, Congestive heart failure, Tachycardia, Pallor, Exertional dyspnea |
ORPHA:90037 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Reduced left ventricular ejection fraction, Abdominal pain, Respiratory failure, Par... |
ORPHA:563 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... |
OMIM:614021 |
| Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Respiratory distress,... |
OMIM:613642 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Dyspnea, Syncope, Palpitations, Elevated jugular venous pressure... |
ORPHA:422 |
| Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... |
ORPHA:45453 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... |
OMIM:604400 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Sudden death, Polymorphic ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic dia... |
OMIM:612124 |
| Cardiomyopathy, Dilated, 2G |
|
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Left atrial enlar... |
OMIM:619897 |
| Loeffler Endocarditis |
|
Dyspnea, Mitral regurgitation, Left ventricular hypertrophy, Palpitations, Fatigue, Aortic regurg... |
ORPHA:75566 |
| Brugada Syndrome |
|
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... |
ORPHA:130 |
| Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
| Coronary Arterial Fistula |
|
Atrial septal defect, Bacterial endocarditis, Abnormal heart morphology, Angina pectoris, Patent ... |
ORPHA:2041 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Dyspnea, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hy... |
OMIM:613873 |
| Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Asymmetric septal hypertrophy, Cardiomyocyte hypertrophy, Dyspnea, Mitral regurgitation, Increase... |
OMIM:620236 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... |
OMIM:601493 |
| Atrial Fibrillation, Familial, 15 |
|
Left atrial enlargement, Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Atri... |
OMIM:615770 |
| Pulmonary Hypertension, Primary, 5 |
|
Pulmonary arterial hypertension, Syncope, Fatigue, Right ventricular hypertrophy, Angina pectoris... |
OMIM:265400 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... |
ORPHA:45452 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology, ... |
OMIM:614954 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Fibrofatty replacem... |
OMIM:609040 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... |
OMIM:612158 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Dyspnea, Fatigue, Splenomegaly |
ORPHA:228312 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... |
OMIM:604765 |
| Trimethylaminuria |
|
Recurrent pneumonia, Hypertension, Splenomegaly, Tachycardia |
OMIM:602079 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left at... |
OMIM:608751 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Left bundle branch bloc... |
OMIM:618920 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction... |
OMIM:613251 |
| Autoimmune Hemolytic Anemia |
|
Dyspnea, Arrhythmia, Fatigue, Abdominal pain, Splenomegaly, Congestive heart failure, Pallor |
ORPHA:98375 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
| Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia |
OMIM:609909 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Sudden cardiac death, Premature ventricular con... |
OMIM:614916 |
| Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular c... |
ORPHA:1329 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... |
OMIM:611528 |
| Left Ventricular Noncompaction 1 |
|
Chest tightness, Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mit... |
OMIM:604169 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Cardiomyocyte hypertrophy, Apical hypertrophic cardiomyopathy, L... |
OMIM:613255 |
| Cardiomyopathy, Dilated, 1E |
|
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... |
OMIM:601154 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Fatigue, Splenomegaly, Congestive heart failure, Arthralgia, Tachycardia, Pallor, Exertional dyspnea |
ORPHA:90033 |
| Acquired Methemoglobinemia |
|
Dyspnea, Syncope, Palpitations, Arrhythmia, Hypoxemia, Fatigue, Abdominal pain, Respiratory distr... |
ORPHA:464453 |
| Cardiomyopathy, Dilated, 1G |
|
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... |
OMIM:604145 |
| Pontiac Fever |
|
Cough, Myalgia, Fatigue |
ORPHA:99748 |
| Bronchopulmonary Dysplasia |
|
Dyspnea, Abnormal respiratory system physiology, Right ventricular failure, Cough, Exercise intol... |
ORPHA:70589 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fatigue, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Tachycardia, Pallor |
ORPHA:276608 |
| Isolated Right Ventricular Hypoplasia |
|
Dyspnea, Systolic heart murmur, Right ventricular failure, Atrial septal defect, Hypoxemia, Right... |
ORPHA:439 |
| Ventricular Tachycardia, Familial |
|
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Pleural Mesothelioma |
|
Dyspnea, Abnormal respiratory system physiology, Constitutional symptom, Cough, Hepatomegaly, Res... |
ORPHA:50251 |
| Fixed Subaortic Stenosis |
|
Ventricular septal defect, Bacterial endocarditis, Left ventricular outflow tract obstruction, At... |
ORPHA:3092 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Respiratory insufficiency, Cardiomyopathy, Exercise intolerance, Supraventricular tachycardia |
OMIM:255100 |
| Spontaneous Periodic Hypothermia |
|
Pallor, Fatigue, Arrhythmia, Abnormal pattern of respiration |
ORPHA:29822 |
| Cardiomyopathy, Dilated, 1O |
|
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... |
OMIM:608569 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Chest pain, Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Dyspnea, Redu... |
OMIM:613243 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Fatigue, Arthralgia, Tachycardia, Pallor, Exertional dyspnea |
ORPHA:90036 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Right bundle branch block, Reduced left ventricular ejection fraction, Hepatomega... |
OMIM:115197 |
| Atrial Standstill 1 |
|
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... |
OMIM:108770 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Cough, Chronic fatigue |
OMIM:234810 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right bundle branch block, Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopath... |
OMIM:610193 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Ventricular ... |
OMIM:600884 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Ventricular tachycardia, Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventri... |
OMIM:607450 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
| Familial Progressive Cardiac Conduction Defect |
|
Dyspnea, Heart block, Syncope, Arrhythmia, Abdominal pain, Bundle branch block, Congestive heart ... |
ORPHA:871 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Dyspnea, Diffuse alveolar hemorrhage, Restrictive ventilatory defect, Cough, ... |
ORPHA:99931 |
| Evans Syndrome |
|
Dyspnea, Syncope, Fatigue, Petechiae, Epistaxis, Pallor |
ORPHA:1959 |
| Long Qt Syndrome 3 |
|
Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Syncope, Sudden cardiac deat... |
OMIM:603830 |
| Familial Dilated Cardiomyopathy |
|
Dyspnea, Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ej... |
ORPHA:217607 |
| Brugada Syndrome 1 |
|
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... |
OMIM:601144 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Ventricular septal defect, Atrial septal defect, Left ventri... |
ORPHA:860 |
| Coproporphyria, Hereditary |
|
Hypertension, Hepatomegaly, Abdominal pain, Respiratory paralysis, Tachycardia, Splenomegaly |
OMIM:121300 |
| Cardiomyopathy, Dilated, 2F |
|
Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Congestive heart fa... |
OMIM:619747 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri... |
ORPHA:99103 |
| Cardiomyopathy, Dilated, 1Bb |
|
Dyspnea, Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestiv... |
OMIM:612877 |
| Long Qt Syndrome 15 |
|
Cardiac arrest, Prolonged QTc interval, Left ventricular noncompaction, Syncope, Ventricular bige... |
OMIM:616249 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachypnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Acute infectio... |
ORPHA:264675 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Chest pain, Abnormal endocardium morphology, Atrial septal defect, Respiratory insufficiency, Arr... |
ORPHA:1880 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Syncope, Palpitations, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, ... |
ORPHA:276556 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Syncope, Palpitations, Hepatomegaly, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypertrophi... |
ORPHA:276575 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Ventricular septal defect, Bacterial endocarditis, Perimembranous... |
ORPHA:99095 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Dyspnea, Fatigue, Splenomegaly |
ORPHA:75563 |
| Gaucher Disease Type 2 |
|
Cardiac arrest, Cough, Hepatomegaly, Respiratory distress, Abnormal pattern of respiration, Splen... |
ORPHA:77260 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Congestive heart failure, Fatigue, Abdominal pain |
OMIM:616794 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Syncope, Palpitations, Hepatomegaly, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypertrophi... |
ORPHA:276580 |
| Variegate Porphyria |
|
Tachycardia, Abdominal pain |
OMIM:176200 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor, Fatigue |
ORPHA:79283 |
| Rheumatic Fever |
|
Myocarditis, Erythema, Endocarditis, Respiratory insufficiency, Arrhythmia, Abnormal mitral valve... |
ORPHA:3099 |
| American Trypanosomiasis |
|
Myocarditis, Dyspnea, Cough, Arrhythmia, Cardiomyopathy, Achalasia, Hepatomegaly, Abdominal pain,... |
ORPHA:3386 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory insufficiency due to muscle weakness, Hepatomegaly, Exercise intolerance, Respiratory... |
OMIM:613561 |
| Cardiomyopathy, Dilated, 1Ii |
|
Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejection fract... |
OMIM:615184 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... |
OMIM:615441 |
| Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Atrial fibrillation, Exertional dyspnea, Pulmonary arterial hypertension... |
ORPHA:99106 |
| Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Hypotension, Hypoxemia, Pneumonia, Respiratory failure, Tachypnea, Bradycardia, T... |
ORPHA:70587 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... |
OMIM:611818 |
| Primary Familial Polycythemia |
|
Dyspnea, Cough, Fatigue, Abdominal pain, Arthralgia, Epistaxis, Exertional dyspnea |
ORPHA:90042 |
| Takayasu Arteritis |
|
Abnormal endocardium morphology, Pulmonary arterial hypertension, Vasculitis, Hypertension, Abnor... |
ORPHA:3287 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability |
OMIM:614896 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Ventricular septal defect, Atrial septal defect, Congestive heart failure, Paroxy... |
ORPHA:49827 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... |
OMIM:600858 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval |
OMIM:220400 |
| Long Qt Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613688 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Palpitations, Hepatomegaly, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Tachycardia... |
ORPHA:324575 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Transient ischemic attack, Supraventricular arrhythmia, Bundle branch block, Exertional dyspnea, ... |
ORPHA:99104 |
| Macrophagic Myofasciitis |
|
Myalgia, Fatigue, Arthralgia |
ORPHA:592 |
| Monosodium Glutamate Sensitivity |
|
Palpitations, Dyspnea, Chest pain |
OMIM:231630 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Polymorphic and polytopic ventricular extrasystoles, Left ventricular noncompaction cardiomyopath... |
OMIM:115000 |
| Tuberculosis |
|
Cough, Fatigue |
ORPHA:3389 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... |
ORPHA:300751 |
| Long Qt Syndrome 6 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613693 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Cardiomyocyte hypertrophy, Arrhythmia, Palpitation... |
ORPHA:263297 |
| Wolff-Parkinson-White Syndrome |
|
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... |
OMIM:194200 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... |
OMIM:618052 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:607487 |
| Sick Sinus Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Left ventricular hypertro... |
OMIM:163800 |
| Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Hypertension, Fatigue, Myocardial infarction, Splenomegaly, Exertional dyspnea |
OMIM:133100 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Exercise-induced myalgia, Exercise intolerance, Fatigue, Exertional dyspnea, Hypertrophic cardiom... |
ORPHA:368 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Tricuspid regurgitation, Congestive heart failure,... |
ORPHA:615 |
| Nipah Virus Disease |
|
Hypotension, Cough, Fatigue, Respiratory distress, Myalgia |
ORPHA:99825 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Pallor, Splenomegaly |
ORPHA:46532 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Lower limb pain, Dyspnea, Hypertension, Exercise intolerance, Fatigue, Congestive heart failure, ... |
ORPHA:1349 |
| Snakebite Envenomation |
|
Pain, Erythema, Hypotension, Cardiogenic shock, Intracranial hemorrhage, Ecchymosis, Cerebral isc... |
ORPHA:449285 |
| Cardiomyopathy, Dilated, 1A |
|
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Dyspnea, Reduced left ventricular ejection fraction, Angina pectoris, ... |
OMIM:115195 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Chronic pulmonary obstruction, Cough, Hepatom... |
ORPHA:2414 |
| Long Qt Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... |
OMIM:192500 |
| Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Dyspnea, Syncope, Sudden death, Sudden cardiac death, Prolonged P... |
OMIM:113900 |
| Typhoid |
|
Cardiac arrest, Epistaxis, Cough, Arrhythmia, Hepatomegaly, Fatigue, Abdominal pain, Gastrointest... |
ORPHA:99745 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Hype... |
OMIM:613690 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy |
OMIM:605676 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Liddle Syndrome |
|
Arrhythmia, Hypertension, Cerebral ischemia, Fatigue |
ORPHA:526 |
| Timothy Syndrome |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Ventricular septal defect, Tetralogy of... |
OMIM:601005 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
| Absence Of The Pulmonary Artery |
|
Reduced left ventricular ejection fraction, Atrial septal defect, Tetralogy of Fallot, Abnormal h... |
ORPHA:980 |
| Hodgkin Lymphoma |
|
Dyspnea, Cough, Bone pain, Hepatomegaly, Fatigue, Splenomegaly, Chest pain |
ORPHA:98293 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Cardiomyocyte hypertrophy, Ventricular fibrillation, Paroxysmal ventricular... |
OMIM:613507 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Ventricular tachycardia, Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Respiratory arrest |
OMIM:600649 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Fatigue, Hypertension associated with pheoc... |
ORPHA:94080 |
| Tularemia |
|
Neck pain, Ocular pain, Pleural effusion, Cough, Respiratory distress, Chills, Arthralgia, Pneumo... |
ORPHA:3392 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
| Hyperthyroidism, Familial Gestational |
|
Increased circulating T4 concentration, Tachycardia |
OMIM:603373 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Right ventricular dilatation, Left bundle branch block, First degree atr... |
OMIM:615616 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
| Long Qt Syndrome 5 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... |
OMIM:613695 |
| Familial Short Qt Syndrome |
|
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... |
ORPHA:51083 |
| Polymyositis |
|
Vasculitis, Respiratory insufficiency, Arrhythmia, Abnormal atrioventricular conduction, Abnormal... |
ORPHA:732 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy |
OMIM:300580 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pain, Ventricular tachycardia, Tachypnea, Tachycardia, Ventricular septal defect, Atrial septal d... |
ORPHA:26793 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Heart block, Arrhythmia, Hypoxemia, Capi... |
ORPHA:542323 |
| Mantle Cell Lymphoma |
|
Fatigue, Splenomegaly |
ORPHA:52416 |
| Babesiosis |
|
Respiratory insufficiency, Cough, Hepatomegaly, Fatigue, Congestive heart failure, Arthralgia, My... |
ORPHA:108 |
| Danon Disease |
|
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely reduced left ventricul... |
OMIM:300257 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Dyspnea, Left ventricular hypertrophy, Exercise intolerance, Fatigue, Hypertrophic cardiomyopathy... |
OMIM:615418 |
| Recurrent Respiratory Papillomatosis |
|
Tracheomalacia, Dyspnea, Tachypnea, Respiratory insufficiency, Syncope, Upper airway obstruction,... |
ORPHA:60032 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Staphylococcal Necrotizing Pneumonia |
|
Shivering, Dyspnea, Tachypnea, Pleural effusion, Hypotension, Cough, Hypoxemia, Nonproductive cou... |
ORPHA:36238 |
| Cryptogenic Organizing Pneumonia |
|
Dyspnea, Wheezing, Restrictive ventilatory defect, Cough, Hypoxemia, Night sweats, Fatigue, Nonpr... |
ORPHA:1302 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Mitral regurgitation, Pulmonic stenosis, Left atrial enlargement, Sick sinus syndrome, Bicuspid a... |
OMIM:616201 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia, Fatigue |
OMIM:619477 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... |
OMIM:617280 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Premature ventricular contraction, Sudden cardiac death |
OMIM:604401 |
| Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... |
OMIM:615916 |
| Histiocytoid Cardiomyopathy |
|
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Ventricular septal defect, Cough, Atrial... |
ORPHA:137675 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Upper airway obstruction, Dyspnea, Aspiration pneumonia |
ORPHA:141152 |
| Tetanus |
|
Bowel incontinence, Hypertension, Rigors, Abdominal pain, Respiratory distress, Tachypnea, Bradyc... |
ORPHA:3299 |
| Inhalational Anthrax |
|
Dyspnea, Hypotension, Fatigue, Respiratory distress, Internal hemorrhage |
ORPHA:247257 |
| Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... |
OMIM:613426 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Chronic fatigue, Elevated calcitonin, Exertional dyspnea |
ORPHA:100083 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Hyperventilation, Hepatomegaly, Apnea, Tachycardia |
OMIM:229700 |
| Naxos Disease |
|
Arrhythmia, Cardiomyopathy, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricula... |
ORPHA:34217 |
| Cardiomyopathy, Dilated, 1Y |
|
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Con... |
OMIM:611878 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... |
ORPHA:85451 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Fatigue, Decreased circulating T4 concentration |
OMIM:618573 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Ventricular septa... |
ORPHA:216694 |
| Naxos Disease |
|
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... |
OMIM:601214 |
| Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Exercise intolerance, Pallor, Abdominal pain |
OMIM:500007 |
| Hemochromatosis, Type 4 |
|
Arrhythmia, Cardiomyopathy, Hepatomegaly, Fatigue, Arthralgia |
OMIM:606069 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Constitutional symptom, Hypotension, Cough, Arrhythmia, Cardiorespiratory arrest, Fa... |
ORPHA:188 |
| Sengers Syndrome |
|
Cardiac arrest, Pulmonary arterial hypertension, Respiratory insufficiency, Exercise intolerance,... |
OMIM:212350 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Pericarditis, Pallor |
ORPHA:163596 |
| Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Respiratory insufficiency, Neonatal respiratory distress, Fatigue |
OMIM:616326 |
| Mercury Poisoning |
|
Dyspnea, Hypotension, Hypertension, Respiratory distress, Respiratory failure, Episodic abdominal... |
ORPHA:330021 |
| Cardiomyopathy, Dilated, 1Oo |
|
Reduced left ventricular ejection fraction, Atrial septal defect, Second degree atrioventricular ... |
OMIM:620247 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Fatigue, Hyperinsulinemic hypoglycemia |
ORPHA:79299 |
| Congenital Myopathy 8 |
|
Respiratory insufficiency, Cardiomegaly, Congestive heart failure, Reduced vital capacity |
OMIM:618654 |
| Arrhythmogenic right ventricular dysplasia, familial, 2 |
|
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia, Dilatation ... |
OMIM:600996 |
| Long Qt Syndrome 14 |
|
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Sudden death, Ventricular fibrillation,... |
OMIM:616247 |
| Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... |
ORPHA:57777 |
| Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... |
OMIM:611875 |
| Refractory Anemia |
|
Abnormal cardiac ventricular function, Dyspnea, Fatigue |
ORPHA:98826 |
| Idiopathic Bronchiectasis |
|
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... |
ORPHA:60033 |
| Long Qt Syndrome 12 |
|
Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation |
OMIM:612955 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Hypotension, Cardiomyopathy, Hepatomegaly, Cardiorespira... |
OMIM:212138 |
| Congenital Disorder Of Glycosylation, Type It |
|
Pulmonary arterial hypertension, Dyspnea, Ventricular septal defect, Aborted sudden cardiac death... |
OMIM:614921 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Fatigue, Ecchymosis, Portal hypertension, Petechiae, Epistaxis, Splenomegaly |
OMIM:619463 |
| Relapsing Fever |
|
Epistaxis, Hypotension, Cough, Fatigue, Abdominal pain, Chills, Arthralgia, Myalgia, Tachycardia |
ORPHA:91547 |
| Hydroxykynureninuria |
|
Dry skin, Tachycardia, Breathing dysregulation, Hypotension |
ORPHA:79155 |
| Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
| Romano-Ward Syndrome |
|
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Sudden cardiac death, Sinus... |
ORPHA:101016 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Exercise-induced myalgia, Dyspnea, Palpitations, Exercise intolerance, Fatigue, Abnormal heart mo... |
OMIM:618250 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Intermittent hyperventilation, Hepatomegaly, Respiratory distress, Episodic tachypnea, T... |
ORPHA:348 |
| Tremor, Hereditary Essential, 2 |
|
Fatigue |
OMIM:602134 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Aortic Arch Interruption |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Abnormal heart morphology,... |
ORPHA:2299 |
| Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
| Beta-Thalassemia |
|
Respiratory insufficiency, Hepatomegaly, Pallor, Hypertrophic cardiomyopathy, Splenomegaly, Skin ... |
ORPHA:848 |
| Hyperinsulinism Due To Insr Deficiency |
|
Fasting hyperinsulinemia, Fatigue, Hyperinsulinemic hypoglycemia |
ORPHA:263458 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fatigue, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Tachycardia, Pallor |
ORPHA:263455 |
| Jervell And Lange-Nielsen Syndrome |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Arrhythmia, Ventricular fibrillation, Postex... |
ORPHA:90647 |
| Dermatitis, Atopic |
|
Facial erythema, Dry skin, Allergic rhinitis, Asthma, Pallor |
OMIM:603165 |
| Sudden Cardiac Failure, Infantile |
|
Myocarditis, Myocardial fibrosis, Sudden cardiac death, Congestive heart failure, Hypertrophic ca... |
OMIM:617222 |
| Laubry-Pezzi Syndrome |
|
Right ventricular outlet tract obstruction, Subarterial ventricular septal defect, Ventricular se... |
ORPHA:99094 |
| Schnitzler Syndrome |
|
Vasculitis, Bone pain, Hepatomegaly, Fatigue, Arthralgia, Myalgia, Splenomegaly |
ORPHA:37748 |
| Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Left atrial enlargement, Left ventricular hypertrophy, Tricuspid ... |
OMIM:614022 |
| Juvenile Dermatomyositis |
|
Vasculitis, Erythema, Dyspnea, Restrictive ventilatory defect, Arrhythmia, Dry skin, Cardiomyopat... |
ORPHA:93672 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Hepatomegaly, Fatigue, Splenomegaly, Respiratory failure, Pallor |
ORPHA:3226 |
| Acute Interstitial Pneumonia |
|
Dyspnea, Tachypnea, Decreased DLCO, Hypertension, Hypoxemia, Fatigue, Nonproductive cough, Crackl... |
ORPHA:79126 |
| Meconium Aspiration Syndrome |
|
Abnormal heart rate variability, Pulmonary arterial hypertension, Aspiration pneumonia, Hypoxemia... |
ORPHA:70588 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Dyspnea, Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Pal... |
ORPHA:1677 |
| Progressive Familial Heart Block, Type Ii |
|
Syncope, Sudden death, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinu... |
OMIM:140400 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Dyspnea, Mitral regurg... |
ORPHA:66529 |
| Attrv30M Amyloidosis |
|
Arrhythmia, Cardiomyopathy, Cardiomegaly, Atrioventricular block |
ORPHA:85447 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Arrhythmia, Fatigue, Gastrointestinal hemorrhage, Arthralgia, Mitral valve prolapse, Myalgia |
ORPHA:230839 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction, Erythema, Abnormal capillary physiology |
ORPHA:100057 |
| Long Qt Syndrome 8 |
|
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Sudden cardiac death, Sinus bradyc... |
OMIM:618447 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Pulmonary arterial hypertension, Congestive heart failure |
OMIM:619751 |
| Acute Myelomonocytic Leukemia |
|
Dyspnea, Pallor |
ORPHA:517 |
| Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Arrhythmia, Ventricular preexcitation |
ORPHA:104 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Pain, Hypertension, Respiratory distress, Left ventricular hypertrophy |
OMIM:616733 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
ST segment elevation, Prolonged QRS complex, Pleural effusion, Hypotension, Enlarged kidney, Incr... |
OMIM:261740 |
| Myopathy, Myofibrillar, 1 |
|
Respiratory insufficiency due to muscle weakness, Restrictive cardiomyopathy, Dilated cardiomyopa... |
OMIM:601419 |
| Eisenmenger Syndrome |
|
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Bacterial endocarditis, Atr... |
ORPHA:97214 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy |
ORPHA:26792 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Dyspnea, Pleural effusion, Chronic pulmonary obstruction, Cough, Respiratory distress, Crackles, ... |
ORPHA:411703 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Dyspnea, Left ventricular hypertrophy, Cough, Cardiomyopathy, Abdominal pain, Respiratory distress |
ORPHA:86812 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Arrhythmia, Hepatomegaly, Fatigue, Sudden cardiac death, Hypertrophic cardiomyopathy |
ORPHA:156 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Aspiration pneumonia, Abnormal heart morphology, Apnea, Episodic tachypnea, Tachycardia |
ORPHA:79264 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, ... |
ORPHA:99125 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating androstenedione concentration, Increased circulating ACTH level, Increased ... |
OMIM:615962 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Respiratory insufficiency, Cardiomyopathy, Dyspnea, Global systolic dysfunction |
OMIM:606842 |
| Primary Myelofibrosis |
|
Hepatosplenomegaly, Constitutional symptom, Hepatomegaly, Fatigue, Ecchymosis, Splenomegaly, Purp... |
ORPHA:824 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Fatigue, Splenomegaly, Arthralgia, Back pain, Pallor |
ORPHA:56425 |
| Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation, Atrial septal defect |
OMIM:613087 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Arrhythmia, Severely reduced left ventricular ejection fraction, Sudden cardiac death, Congestive... |
OMIM:611705 |
| Refractory Anemia With Excess Blasts |
|
Palpitations, Bone pain, Anemic pallor, Fatigue, Exertional dyspnea, Retinal hemorrhage |
ORPHA:86839 |
| Polycythemia Vera |
|
Respiratory insufficiency, Hypertension, Pulmonary embolism, Fatigue, Abdominal pain, Intermitten... |
ORPHA:729 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic ... |
OMIM:614096 |
| Severe Acute Respiratory Syndrome |
|
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea... |
ORPHA:140896 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Bronchial Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Dyspnea, Whe... |
ORPHA:97287 |
| Paragangliomas 3 |
|
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma, Elevated circulating ca... |
OMIM:605373 |
| Sepsis In Premature Infants |
|
Dyspnea, Abnormal respiratory system physiology, Hypotension, Hepatomegaly, Splenomegaly, Purpura... |
ORPHA:90051 |
| Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... |
OMIM:601494 |
| Brugada Syndrome 2 |
|
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... |
OMIM:611777 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Premature ventricular contraction, Ventricular fibrillation, Sudden cardiac death |
OMIM:612956 |
| Leishmaniasis |
|
Night sweats, Fatigue, Hepatomegaly, Splenomegaly, Arthralgia, Rhinitis, Pallor, Skin ulcer |
ORPHA:507 |
| Avian Influenza |
|
Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Fatigue, Abdominal p... |
ORPHA:454836 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Syncope, Ventricular tachycardia, Erythema, Dilated cardiomyopathy |
OMIM:615821 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Dyspnea, Mitral regurgitation, Left atrial enlargement, Syncope, P... |
ORPHA:75249 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Sinus tachycardia, Hypertension... |
OMIM:614473 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Arthralgia, Tachypnea, Pulmonary ... |
OMIM:616414 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Increased circulating T4 concentration, Increased circulating free T4 concentration, Tachycardia |
OMIM:613239 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Respiratory failure requiring assisted ventilation, Left ventricula... |
ORPHA:308552 |
| Hemochromatosis, Type 3 |
|
Purpura, Cardiomyopathy, Fatigue |
OMIM:604250 |
| Hughes-Stovin Syndrome |
|
Pulmonary arterial hypertension, Vasculitis, Dyspnea, Cough, Pulmonary embolism, Cardiorespirator... |
ORPHA:228116 |
| Congenital Tricuspid Valve Dysplasia |
|
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Respiratory failure requiring... |
ORPHA:555874 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced myalgia, Arrhythmia, Hepatomegaly, Fatigue, Cardiomegaly, Exertional dyspnea |
ORPHA:42 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Perimembranous ve... |
OMIM:618782 |
| Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Abdominal pain, Right ventricular hypertrophy, Internal hemorrhage,... |
ORPHA:335 |
| Acute Lung Injury |
|
Dyspnea, Tachypnea, Diffuse alveolar hemorrhage, Hypoxemia, Respiratory distress, Shock, Respirat... |
ORPHA:178320 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Ventilator dependence with inability to wean, Respiratory insufficiency, Respiratory insufficienc... |
ORPHA:254875 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Double... |
ORPHA:3426 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Abnormal T-wave, Reduced FEV1/FVC ratio, Central sleep apnea, Sy... |
ORPHA:70591 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Hypertension, Tachycardia, Ventricular septal defect |
OMIM:613870 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Apnea, Abnormal ST segment, Cong... |
ORPHA:1055 |
| Hemoglobin D Disease |
|
Pallor, Abdominal pain, Splenomegaly |
ORPHA:90039 |
| Ebstein Anomaly |
|
Right bundle branch block, Atrial septal defect, Atrial standstill, Sudden cardiac death, Ebstein... |
OMIM:224700 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Hypertension, Fatigue, Asthenia, Decreased circulating cortisol level |
OMIM:611489 |
| Cocaine Intoxication |
|
Prolonged QRS complex, Hyperventilation, Abdominal pain, Supraventricular arrhythmia, Pneumothora... |
ORPHA:90068 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Hepatomegaly, Ventricular hypertrophy, Apnea, Congestive heart fail... |
OMIM:619048 |
| Chronic Beryllium Disease |
|
Dyspnea, Abnormal respiratory system physiology, Abnormality on pulmonary function testing, Reduc... |
ORPHA:133 |
| Asbestos Intoxication |
|
Chest tightness, Oxygen desaturation on exertion, Dyspnea, Wheezing, Late inspiratory crackles, D... |
ORPHA:2302 |
| Cardiac Diverticulum |
|
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology, ... |
ORPHA:1686 |
| Erythrocytosis, Familial, 2 |
|
Pulmonary arterial hypertension, Cerebral hemorrhage, Hypotension, Fatigue, Elevated circulating ... |
OMIM:263400 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| Hemorrhagic Fever-Renal Syndrome |
|
Intracranial hemorrhage, Abdominal pain, Respiratory failure, Epistaxis, Dyspnea, Hypotension, Pa... |
ORPHA:340 |
| Cholangiocarcinoma |
|
Fatigue, Abdominal pain |
ORPHA:70567 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia |
OMIM:188580 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Dyspnea, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, B... |
OMIM:615745 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Asthenia, Myalgia, Tachycardia |
OMIM:619737 |
| Carnitine Deficiency, Systemic Primary |
|
Mitral regurgitation, Cardiomyopathy, Hepatomegaly, Respiratory distress, Congestive heart failur... |
OMIM:212140 |
| Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Dyspla... |
ORPHA:3093 |
| Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... |
OMIM:609621 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Epis... |
OMIM:171420 |
| Sick Sinus Syndrome 1 |
|
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... |
OMIM:608567 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Ventricular septal defect, Respiratory insufficiency, Hypertrophic cardio... |
OMIM:616276 |
| Hereditary Coproporphyria |
|
Respiratory insufficiency, Abdominal pain, Limb pain, Back pain, Tachycardia |
ORPHA:79273 |
| Adiposis Dolorosa |
|
Chronic pain, Fatigue, Arthralgia |
OMIM:103200 |
| Laryngotracheal Angioma |
|
Intercostal retractions, Cough, Apnea, Respiratory distress, Stridor, Wheezing |
ORPHA:137935 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation |
OMIM:620231 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Hypercapnia, Tachycardia |
OMIM:601887 |
| Adult-Onset Still Disease |
|
Myocarditis, Erythema, Restrictive ventilatory defect, Hepatomegaly, Fatigue, Abdominal pain, Art... |
ORPHA:829 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Apnea, Respiratory failure, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Epiphyseal Dysplasia, Multiple, 2 |
|
Knee pain, Foot pain, Fatigue |
OMIM:600204 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Cardiomyopathy, Exercise intolerance, Fatigue, Bradycardia, Myalgia |
OMIM:609286 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Aspiration, Neonatal respiratory distress, Erythema, Ventricular septal defect, Hypertension, Apn... |
OMIM:614653 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Fatigue, Hypertension associated with pheoc... |
ORPHA:276621 |
| Postorgasmic Illness Syndrome |
|
Palpitations, Hypertension, Fatigue |
ORPHA:279947 |
| Legionnaires Disease |
|
Myocarditis, Hypotension, Endocarditis, Restrictive ventilatory defect, Arrhythmia, Respiratory i... |
ORPHA:549 |
| Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Dyspnea, Mitral regurgitation, Palmoplantar cutis laxa, Ventricu... |
ORPHA:363705 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
| Al Amyloidosis |
|
Abnormal EKG, Dyspnea, Reduced left ventricular ejection fraction, Arrhythmia, Abnormal cardiac a... |
ORPHA:85443 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Vasculitis, Recurrent intrapulmonary hemorrhage, Abnormal pericardium morphology, En... |
ORPHA:183 |
| Spinal Arteriovenous Metameric Syndrome |
|
Bone pain, Fatigue, Gangrene, Congestive heart failure, Arthralgia |
ORPHA:53721 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Hypertension, Fatigue, Decreased circulating ACTH level, In... |
OMIM:615954 |
| Bacterial Toxic-Shock Syndrome |
|
Pain, Myocarditis, Tachypnea, Hypotension, Scaling skin, Capillary leak, Abdominal pain, Ecchymos... |
ORPHA:36234 |
| Mucolipidosis Type Iii |
|
Abnormal aortic valve morphology, Abnormal heart valve morphology, Fatigue |
ORPHA:577 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Waldenström Macroglobulinemia |
|
Vasculitis, Respiratory insufficiency, Hepatomegaly, Fatigue, Splenomegaly, Purpura, Gastrointest... |
ORPHA:33226 |
| Lymphoid Interstitial Pneumonia |
|
Raynaud phenomenon, Dyspnea, Enlarged kidney, Decreased DLCO, Restrictive ventilatory defect, Cou... |
ORPHA:79128 |
| Intellectual Disability And Myopathy Syndrome |
|
Sleep apnea, Left ventricular systolic dysfunction, Fatigue |
OMIM:619719 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Dyspnea, Syncope, Palpitations, Tricuspid regurgitation, Right v... |
ORPHA:275766 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Respiratory distress |
ORPHA:238329 |
| Partial Atrioventricular Septal Defect |
|
Mitral regurgitation, Hypoplastic left heart, Tetralogy of Fallot, Bacterial endocarditis, Syncop... |
ORPHA:1330 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia, Dry skin, Respiratory distress, Decreased circulating T4 concentration |
ORPHA:226313 |
| Paragangliomas 1 |
|
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma, Elevated circulating ca... |
OMIM:168000 |
| Myotonic Dystrophy 2 |
|
Elevated circulating follicle stimulating hormone level, Palpitations, Premature ventricular cont... |
OMIM:602668 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Syncope, Bone pain, Hepatomegaly, Fatigue, Abdominal pain, Splenomegaly, Arthralgia,... |
ORPHA:98849 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... |
OMIM:604559 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation |
OMIM:600919 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Paroxysmal dyspnea, Cardiomegaly, Chest... |
ORPHA:229 |
| Mastocytosis |
|
Hypotension, Respiratory insufficiency, Arrhythmia, Cough, Hepatomegaly, Fatigue, Gastrointestina... |
ORPHA:98292 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Cholestasis-Lymphedema Syndrome |
|
Bone pain, Hepatomegaly, Fatigue, Abdominal pain, Portal hypertension, Gastrointestinal hemorrhag... |
ORPHA:1414 |
| Analbuminemia |
|
Fatigue, Hypotension |
OMIM:616000 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Dyspnea, Fatigue, Splenomegaly |
ORPHA:231401 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cough, Respiratory distress, Cor pulmonale, Respiratory failure, Tachypnea |
OMIM:263000 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Cardiomyopathy, Hepatomegaly, Abdominal pain, Respiratory distress, Splenomegaly |
ORPHA:79312 |
| Acute Promyelocytic Leukemia |
|
Diffuse alveolar hemorrhage, Productive cough, Bone pain, Fatigue, Abdominal pain, Ecchymosis, Pu... |
ORPHA:520 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiac arrest, Left ventricular hypertrophy, Cardiomyopathy, Exercise intolerance, Fatigue, Hepa... |
OMIM:617713 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
| Glycogen Storage Disease Ii |
|
Subarachnoid hemorrhage, Dyspnea, Wolff-Parkinson-White syndrome, Right axis deviation, Respirato... |
OMIM:232300 |
| Hemochromatosis, Type 1 |
|
Arrhythmia, Cardiomyopathy, Hepatomegaly, Abdominal pain, Telangiectasia, Congestive heart failur... |
OMIM:235200 |
| Malignant Atrophic Papulosis |
|
Abnormal pericardium morphology, Ischemic stroke, Fatigue, Abdominal pain, Gastrointestinal hemor... |
ORPHA:679 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated calcitonin, Cerebral hemorrhage, Sinus tachycardia, Palpitations, Fatigue, Hypertension ... |
ORPHA:29072 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Fatigue, Splenomegaly |
ORPHA:86893 |
| Botulism |
|
Respiratory insufficiency, Arrhythmia, Fatigue, Abdominal pain |
ORPHA:1267 |
| Lyme Disease |
|
Arrhythmia, Fatigue, Atrioventricular block, Arthralgia, Myalgia |
ORPHA:91546 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Tachycardia, Exercise intolerance, Hepatomegaly, Hyperinsulinemia, Splenomegaly, Recurrent pneumo... |
OMIM:613327 |
| Cholera |
|
Hypovolemic shock, Aspiration pneumonia, Palmoplantar cutis laxa, Hypotension, Hyperventilation, ... |
ORPHA:173 |
| Congenital Myopathy 10A, Severe Variant |
|
Restrictive ventilatory defect, Respiratory distress, Respiratory insufficiency, Respiratory failure |
OMIM:614399 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arrhythmia, Cardiomyopathy, Elevated jugular venous pressure, Hepatomegaly, Fatigue, Abdominal pa... |
ORPHA:465508 |
| Congenital Tracheomalacia |
|
Intercostal retractions, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Pr... |
ORPHA:95430 |
| Andersen-Tawil Syndrome |
|
Prolonged QTc interval, Polymorphic and polytopic ventricular extrasystoles, Hyperaldosteronism, ... |
ORPHA:37553 |
| Familial Focal Epilepsy With Variable Foci |
|
Pain, Pallor |
ORPHA:98820 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Abnormal cardiac septum morphology |
ORPHA:2374 |
| Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Classic Hodgkin Lymphoma |
|
Respiratory insufficiency, Cough, Bone pain, Hepatomegaly, Fatigue, Splenomegaly, Chest pain |
ORPHA:391 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cardiac arrest, Hepatomegaly, Irregular respiration, Respiratory distress, Myofiber disarray, Hyp... |
OMIM:604377 |
| Postpoliomyelitis Syndrome |
|
Pain, Respiratory insufficiency, Fatigue, Hypoventilation, Arthralgia, Myalgia |
ORPHA:2942 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Slc35A1-Cdg |
|
Respiratory distress, Pulmonary hemorrhage, Hypoxemia, Pneumonia |
ORPHA:238459 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Severely reduced left ventricular e... |
ORPHA:444013 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular tachycardia, Hypotension, Respiratory insufficiency, Arrhythmia, Cardiomyopathy, Sudd... |
ORPHA:159 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Cardiomegaly, Perimembranous ventricular septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Follicular Lymphoma |
|
Pleural effusion, Night sweats, Fatigue, Splenomegaly |
ORPHA:545 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Tachypnea, Respiratory insufficiency, Hepatomegaly, Respiratory distress, Respiratory failure, Di... |
OMIM:614299 |
| Scorpion Envenomation |
|
Pain, Myocarditis, Erythema, Arrhythmia, Hypertension, Abdominal pain, Prominent U wave, Prematur... |
ORPHA:466677 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia, Patent foramen ovale |
OMIM:617182 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Dyspnea, Syncope, Fatigue, Hyperinsulinemia, Orthostatic syncope, Orthostatic hypot... |
ORPHA:230 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, Cardiomegaly |
OMIM:614702 |
| Malignant Hyperthermia Of Anesthesia |
|
Ventricular tachycardia, Hypercapnia, High-output congestive heart failure, Supraventricular tach... |
ORPHA:423 |
| Iatrogenic Botulism |
|
Dyspnea, Fatigue, Orthostatic hypotension |
ORPHA:254509 |
| Barth Syndrome |
|
Arrhythmia, Exercise intolerance, Fatigue, Tricuspid regurgitation, Congestive heart failure, Inc... |
OMIM:302060 |
| Autoinflammation With Infantile Enterocolitis |
|
Diffuse alveolar hemorrhage, Fatigue, Arthralgia, Myalgia, Splenomegaly |
OMIM:616050 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced myalgia, Tachypnea, Reduced left ventricular ejection fraction, Hepatomegaly, Su... |
OMIM:201475 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Arrhythmia, Hypertension, Abnormal ... |
OMIM:540000 |
| Reynolds Syndrome |
|
Respiratory insufficiency, Mucosal telangiectasiae, Hepatomegaly, Fatigue, Telangiectasia of the ... |
ORPHA:779 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Cardiomegaly, Ventricular hypertrophy, Tricuspid regurgitation, ... |
OMIM:619051 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hepatomegaly, Congestive heart failure, Pallor, Splenomegaly |
ORPHA:75564 |
| Undifferentiated Pleomorphic Sarcoma |
|
Fatigue |
ORPHA:2023 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Hepatomegaly, Cerebral ischemia, Fatigue |
ORPHA:927 |
| Ethylene Glycol Poisoning |
|
Tachypnea, Hypotension, Tachycardia, Prolonged QT interval, Hypertension, Congestive heart failur... |
ORPHA:31826 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor, Melena, Fatigue |
ORPHA:98870 |
| Malaria |
|
Respiratory distress, Myalgia |
ORPHA:673 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Respiratory insufficiency, Cough, Hypox... |
OMIM:610913 |
| Methylmalonic Acidemia With Homocystinuria |
|
Fatigue |
ORPHA:26 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Tachypnea |
OMIM:267450 |
| Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Fatigue, Hypotension, Decreased circulating ACTH level |
ORPHA:95619 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Dyspnea, Arthralgia, Fatigue, Abdominal pain |
OMIM:615399 |
| Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Respiratory insufficiency, Cough, Fatigue, Sinusitis, Gangrene, Loca... |
OMIM:608710 |
| Giant Cell Arteritis |
|
Vasculitis, Epistaxis, Cough, Arrhythmia, Double outlet right ventricle with subpulmonary ventric... |
ORPHA:397 |
| Carney Triad |
|
Arrhythmia, Hypertension, Fatigue, Abdominal pain, Gastrointestinal hemorrhage, Tachycardia |
ORPHA:139411 |
| Porphyria Variegata |
|
Hypertension, Abdominal pain, Skin vesicle, Back pain, Respiratory paralysis, Tachycardia, Chest ... |
ORPHA:79473 |
| Whipple Disease |
|
Myocarditis, Hypotension, Respiratory insufficiency, Cough, Hepatomegaly, Fatigue, Abdominal pain... |
ORPHA:3452 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Hepatomegaly, Respiratory fai... |
ORPHA:254864 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block |
OMIM:160900 |
| Pfapa Syndrome |
|
Hepatomegaly, Fatigue, Abdominal pain, Arthralgia, Splenomegaly |
ORPHA:42642 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Abdominal pain, Splenomegaly, Restrictive cardiomyopathy, Chills, Myalgia, Pallor, ... |
ORPHA:822 |
| Renal Nutcracker Syndrome |
|
Tachycardia, Syncope, Fatigue, Abdominal pain, Orthostatic hypotension, Flank pain |
ORPHA:71273 |
| 16P12.1P12.3 Triplication Syndrome |
|
Abnormal tricuspid valve morphology, Tachycardia, Abnormal heart morphology, Atrial septal defect |
ORPHA:485405 |
| Q Fever |
|
Myocarditis, Hepatosplenomegaly, Vasculitis, Endocarditis, Cough, Night sweats, Fatigue, Hepatome... |
ORPHA:781 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... |
OMIM:619464 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Vasculitis, Bowel incontinence, Left ventricular hypertrophy, Respiratory insufficiency, Left ven... |
ORPHA:365 |
| Fabry Disease |
|
Chronic pulmonary obstruction, Abdominal pain, Transient ischemic attack, Angina pectoris, Bundle... |
ORPHA:324 |
| Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
| Scimitar Syndrome |
|
Pulmonary arterial hypertension, Dextrocardia, Hypoplastic left heart, Atrial septal defect, Hear... |
ORPHA:185 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Pulmonary arterial hypertension, Dyspnea, Hepatomegaly, Fatigue, Splenomegaly, Purpu... |
ORPHA:809 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Dyspnea, Right ventricular failure, Bronchospasm, Facial telangiectasia, Chronic fatigue, Night s... |
ORPHA:100085 |
| Thymic Carcinoma |
|
Cough, Chest pain, Dyspnea, Fatigue |
ORPHA:99868 |
| Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Atrial septal defect, Tricuspid regurgitation, Pa... |
OMIM:618652 |
| Porphyria, Acute Intermittent |
|
Urinary incontinence, Hypertension, Abdominal pain, Tachycardia, Respiratory paralysis |
OMIM:176000 |
| Familial Cold Urticaria |
|
Erythema, Fatigue, Abdominal pain, Arthralgia, Myalgia |
ORPHA:47045 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... |
OMIM:108950 |
| Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Hyperventilation, Cough, Hypoxemia, Respiratory distress, Reduced forced... |
ORPHA:91359 |
| Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Atrial septal defect, Restrictive ventilatory defect, Respiratory ... |
ORPHA:70 |
| Beta-Ketothiolase Deficiency |
|
Hypotension, Cough, Hypertension, Hepatomegaly, Body odor, Tachypnea, Pallor |
ORPHA:134 |
| Insulinoma |
|
Palpitations, Fasting hyperinsulinemia, Fatigue, Hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:97279 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Myalgia, Exercise intolerance |
ORPHA:2596 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Hepatomegaly, Abdominal pain, Bundle branch block, Arthralgia, Bradycardia, Epistaxi... |
ORPHA:99827 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly |
OMIM:619064 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatosplenomegaly, Respiratory insufficiency, Hepatomegaly, Respiratory distress, Portal hyperte... |
ORPHA:367 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Left ventricular hypertrophy |
OMIM:616974 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Cardiorespiratory arrest, Sudden death, Apnea, Bronchospasm, Bradycardia, Stridor, Abnormal patte... |
OMIM:608800 |
| Congenital Isolated Acth Deficiency |
|
Hypotension, Fatigue, Decreased circulating cortisol level |
ORPHA:199296 |
| Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Congestive heart failure, Hepatomegaly, Splenomegaly |
OMIM:269920 |
| Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Dyspnea, High-output congestive heart failure, Arrhythmia, Splenomegaly, Arth... |
ORPHA:231226 |
| Sheehan Syndrome |
|
Dry skin, Chronic fatigue, Palpitations, Decreased serum estradiol, Chills, Arthralgia, Orthostat... |
ORPHA:91355 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Cardiomyopathy, Fatigue |
ORPHA:1215 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly, Fatigue, Congestive heart failure, Myalgia |
OMIM:619259 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Hypotension, Hepatomegaly, Fatigue, Apnea, Dilated cardiomyopathy, Tachypnea, Pallor |
ORPHA:20 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Respiratory insufficiency, Hypertension, Apnea, Cardiomegaly |
OMIM:618886 |
| Cardiogenic Shock |
|
Cardiac arrest, Abnormal EKG, ST segment elevation, Dyspnea, Mitral regurgitation, Hypotension, E... |
ORPHA:97292 |
| Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... |
OMIM:612240 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Hepatomegaly |
OMIM:614741 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Snoring, Lower limb pain, Mitral regurgitation, Fatigue, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
| Aneurysm Of Sinus Of Valsalva |
|
Dyspnea, Bacterial endocarditis, Cough, Aortic regurgitation, Congestive heart failure, Heart mur... |
ORPHA:1054 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Pulmonary arterial hypertension, Mitral regurgitation, Enlarged kidney, Atria... |
ORPHA:505248 |
| Plague |
|
Hypotension, Endocarditis, Arrhythmia, Dry skin, Hepatomegaly, Fatigue, Abdominal pain, Splenomeg... |
ORPHA:707 |
| Granulomatosis With Polyangiitis |
|
Chronic pulmonary obstruction, Abdominal pain, Angina pectoris, Arthralgia, Epistaxis, Skin ulcer... |
ORPHA:900 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
| Overhydrated Hereditary Stomatocytosis |
|
Pulmonary embolism, Hepatomegaly, Fatigue, Splenomegaly |
OMIM:185000 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Constitutional symptom, Hypotension, Bone pain, Fatigue, Abdominal pain, Port... |
ORPHA:98850 |
| Arterial Tortuosity Syndrome |
|
Cardiac arrest, Myocarditis, Dyspnea, Redundant skin, Telangiectasia of the skin, Hypertension, C... |
ORPHA:3342 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Patent foramen ovale, Bradycardia, Ventri... |
ORPHA:542306 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bone pain, Hepatomegaly, Splenomegaly, Chronic fatigue |
OMIM:610539 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Dyspnea, Cough, Hypertension, Ri... |
OMIM:178600 |
| Porphyria |
|
Chest pain, Hypertension, Fatigue, Abdominal pain |
ORPHA:738 |
| Beta-Thalassemia Major |
|
Hepatosplenomegaly, Dyspnea, High-output congestive heart failure, Arrhythmia, Hepatomegaly, Sple... |
ORPHA:231214 |
| Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia, Respiratory distress, Sinusitis, Bronchiectasis, Immotile c... |
OMIM:606763 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Pallor, Splenomegaly |
OMIM:615631 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Pituitary Apoplexy |
|
Trigeminal neuralgia, Elevated circulating growth hormone concentration, Hypotension, Increased c... |
ORPHA:95613 |
| Thyroid Lymphoma |
|
Pain, Dyspnea, Upper airway obstruction, Respiratory distress, Stridor |
ORPHA:97285 |
| Idiopathic Hypereosinophilic Syndrome |
|
Intracranial hemorrhage, Abdominal pain, Transient ischemic attack, Supraventricular arrhythmia, ... |
ORPHA:3260 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Dyspnea, Mitral regurgitation, Atrial septal defect, Left ventricular hypertrophy, Abnormal heart... |
ORPHA:230851 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Fatigue, Splenomegaly |
ORPHA:66661 |
| Refsum Disease, Classic |
|
Arrhythmia, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:266500 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mitral regurgitation, Tricuspid regurgitation, Atrial flutter, Aortic valve stenosis, Congestive ... |
ORPHA:324410 |
| Von Hippel-Lindau Disease |
|
Myocarditis, Elevated circulating catecholamine level, Arrhythmia, Cardiomyopathy, Palpitations, ... |
ORPHA:892 |
| Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Dyspnea, Tachypnea, Restrictive ventilatory defect, Respiratory ... |
ORPHA:60025 |
| Pheochromocytoma |
|
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Epis... |
OMIM:171300 |
| Rare Circulatory System Disease |
|
Pain, Shoulder pain, Intermittent claudication, Knee pain, Pallor |
ORPHA:98028 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
| Toxic Epidermal Necrolysis |
|
Erythema, Restrictive ventilatory defect, Cough, Fatigue, Abdominal pain, Sudden cardiac death, R... |
ORPHA:537 |
| Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Dyspnea, Pulmonary hemorrhage, Bacterial endocarditis, Cough, Pa... |
ORPHA:2038 |
| Simple Cryoglobulinemia |
|
Raynaud phenomenon, Vasculitis, Hypertension, Fatigue, Abdominal pain, Abnormal heart morphology,... |
ORPHA:91139 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Hypoxemia, Hepatomegaly... |
OMIM:612387 |
| Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Pulmonary arterial hypertension, High-output congestive heart failure, Hepato... |
ORPHA:231222 |
| Stevens-Johnson Syndrome |
|
Erythema, Dyspnea, Restrictive ventilatory defect, Cough, Fatigue, Abdominal pain, Sudden cardiac... |
ORPHA:36426 |
| Graft Versus Host Disease |
|
Hepatosplenomegaly, Scaling skin, Abdominal pain, Pneumonia, Tachycardia |
ORPHA:39812 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Bowel incontinence, Arrhythmia, Hepatomegaly, Myocardial infarction, Congestive hea... |
ORPHA:330001 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Dilated cardiomyopathy, Erythema, Tachycardia, Left ventricular hypertrophy |
OMIM:618321 |
| Auriculocondylar Syndrome 2 |
|
Respiratory distress, Snoring, Apnea |
OMIM:614669 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Telangiectasia, Respiratory distress, Hepatomegaly, Splenomegaly |
OMIM:608799 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Sinusitis, Fatigue, Skin ulcer |
ORPHA:229717 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Bowel incontinence, Redundant skin, Palmoplantar cutis laxa, Uri... |
OMIM:616482 |
| Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Tachycardia, Hypoxemia, Tachypnea |
ORPHA:71275 |
| Serotonin Syndrome |
|
Tachycardia, Hypertension, Hypotension, Tachypnea |
ORPHA:43116 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor, Apnea |
ORPHA:439218 |
| Anaplastic Thyroid Carcinoma |
|
Pain, Dyspnea, Cough, Upper airway obstruction, Respiratory distress, Stridor |
