Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... |
ORPHA:976 |
His Bundle Tachycardia |
|
Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
Brugada Syndrome |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... |
ORPHA:130 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... |
OMIM:614021 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death |
OMIM:107970 |
Long Qt Syndrome 13 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... |
OMIM:613485 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... |
OMIM:604772 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... |
OMIM:610476 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... |
OMIM:611528 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... |
OMIM:616117 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... |
ORPHA:45453 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Sudden cardiac death, Ventricular tachycardia |
ORPHA:3286 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... |
OMIM:604400 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Syncope, Cardiac arrest, Ventricular tachycardia |
OMIM:614916 |
Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Cardiogenic Shock |
|
Oliguria, ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugul... |
ORPHA:97292 |
Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Elevated circulating creatinine concentration, Nephrolithiasis, Hematuria, Renal insuff... |
OMIM:614723 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... |
OMIM:612926 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Syncope, Ventricular tachycardia |
OMIM:611938 |
Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... |
OMIM:601154 |
Brugada Syndrome 1 |
|
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... |
OMIM:601144 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... |
OMIM:610193 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... |
OMIM:607450 |
Systemic Capillary Leak Syndrome |
|
Oliguria, Abnormal renal tubule morphology, Arrhythmia, Hypotension, Myocarditis, Renal insuffici... |
ORPHA:188 |
Colchicine Poisoning |
|
Oliguria, Hypovolemia, Hypokalemia, Hyponatremia, Arrhythmia, Congestive heart failure, Abnormal ... |
ORPHA:31824 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... |
OMIM:604145 |
Nephronophthisis 1 |
|
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... |
OMIM:256100 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Cardiomyopathy, Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia |
OMIM:612124 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Oliguria, Ventricular tachycardia, Arrhythmia, Elevated circulating acylcarnitine concentration, ... |
ORPHA:159 |
Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
Renal Glucosuria |
|
Glycosuria, Enuresis nocturna, Polydipsia, Polyuria, Polyphagia |
OMIM:233100 |
Genetic Recurrent Myoglobinuria |
|
Oliguria, Arrhythmia, Acute kidney injury, Hyperkalemia, Hypocalcemia, Recurrent myoglobinuria, H... |
ORPHA:99845 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... |
OMIM:615441 |
Kerion Celsi |
|
Recurrent skin infections, Fever, Lymphadenopathy, Inflammatory abnormality of the skin, Recurren... |
ORPHA:499 |
Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
Diffuse Cutaneous Systemic Sclerosis |
|
Oliguria, Congestive heart failure, Telangiectasia of the skin, Hypertensive crisis, Pulmonary ar... |
ORPHA:220393 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia |
OMIM:192605 |
Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria, Nephropathy... |
OMIM:137950 |
Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
Renal Tubular Dysgenesis |
|
Anuria, Renotubular dysgenesis, Hypotension, Abnormality of the urinary system |
OMIM:267430 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Premature ventricular contraction, Left bundle branch block, Presyncope,... |
OMIM:618920 |
Atrial Standstill 1 |
|
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree atrioventr... |
OMIM:108770 |
Senior-Loken Syndrome 1 |
|
Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease, Polyuria |
OMIM:266900 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
OMIM:236800 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... |
OMIM:614954 |
Wolff-Parkinson-White Syndrome |
|
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... |
OMIM:194200 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Renal Hypoplasia |
|
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... |
ORPHA:93101 |
Ochoa Syndrome |
|
Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Hypertension, Renal ins... |
ORPHA:2704 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... |
OMIM:608758 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypertension, Stage 5 chronic kidney dis... |
OMIM:603965 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Immunodeficiency 104 |
|
T lymphocytopenia, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Eczema, Lymphaden... |
OMIM:608971 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Hyp... |
OMIM:161900 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Hypertensio... |
OMIM:616818 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Urinary urgency, Urinary incontinence, Hypotension |
OMIM:156310 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy, Fever |
ORPHA:319600 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Hypertension, Stage 5 chroni... |
OMIM:613944 |
Nail-Patella-Like Renal Disease |
|
Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria, Renal insufficiency |
ORPHA:2613 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes |
OMIM:220400 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Polymorphic and polytopic ventricular extrasystoles, Ventricular fibrillation, Torsade de pointes... |
OMIM:115000 |
Immunodeficiency 14A, Autosomal Dominant |
|
T lymphocytopenia, Recurrent ear infections, Increased circulating IgM level, Decreased specific ... |
OMIM:615513 |
Long Qt Syndrome 3 |
|
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope |
OMIM:603830 |
Long Qt Syndrome 2 |
|
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope |
OMIM:613688 |
Long Qt Syndrome 6 |
|
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope |
OMIM:613693 |
Long Qt Syndrome 5 |
|
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope |
OMIM:613695 |
Immunodeficiency 32A |
|
Recurrent infections, Lymphadenopathy |
OMIM:614893 |
Idiopathic Neonatal Atrial Flutter |
|
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... |
ORPHA:45452 |
Long Qt Syndrome 1 |
|
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... |
OMIM:192500 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Hypertensio... |
OMIM:601894 |
Hemorrhagic Fever-Renal Syndrome |
|
Subconjunctival hemorrhage, Acute tubulointerstitial nephritis, Elevated circulating creatinine c... |
ORPHA:340 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Systolic heart murmur, Congestive heart failure, Le... |
ORPHA:99105 |
Cardiomyopathy, Dilated, 1Y |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:611878 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation |
OMIM:617280 |
Nephronophthisis-Like Nephropathy 2 |
|
Periglomerular fibrosis, Elevated circulating creatinine concentration, Polyuria, Renal insuffici... |
OMIM:619468 |
Aneurysm Of Sinus Of Valsalva |
|
Oliguria, Aortic regurgitation, Congestive heart failure, Bacterial endocarditis, Heart murmur |
ORPHA:1054 |
Atrial Standstill |
|
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... |
ORPHA:1344 |
Familial Short Qt Syndrome |
|
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... |
ORPHA:51083 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Primary Membranoproliferative Glomerulonephritis |
|
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... |
ORPHA:54370 |
Microscopic Polyangiitis |
|
Oliguria, Gastrointestinal hemorrhage, Hematuria, Arrhythmia, Congestive heart failure, Glomerulo... |
ORPHA:727 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Hypercalciuria, Polyuria, Hypertension, Decreased circulating renin level, Polydipsia |
OMIM:613677 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating antibody... |
OMIM:618495 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis |
ORPHA:60026 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent otitis media, Autoimmune hemolytic anemia, Membranous nephropathy, Recurrent urinary tr... |
OMIM:615559 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased T cell activation, Recurrent otitis media, Recurrent viral infections, Autoimmune throm... |
OMIM:300853 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Lassa Fever |
|
Oliguria, Shock, Dysphagia |
ORPHA:99824 |
Lymphoproliferative Syndrome 3 |
|
Recurrent infections, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, ... |
OMIM:618261 |
Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity, Adrenocortical adenoma |
OMIM:248100 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... |
OMIM:613838 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Senior-Loken Syndrome 4 |
|
Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease, Polyuria |
OMIM:606996 |
Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chronic kidney disease, Focal segmental... |
OMIM:613237 |
Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Absent ankle pulse, Myocardial infarction, Abnormality of venous p... |
ORPHA:90064 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure |
OMIM:601493 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Proteinuria, Hypertension, Renal insufficiency, Focal segmental glomerulosclerosis |
OMIM:607832 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Bundle branch block, Ventricular tachycardia |
OMIM:615616 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Bronchiectasis, Recurrent respiratory infections, Follicular hyperplasia, Lym... |
OMIM:619126 |
Long Qt Syndrome 12 |
|
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval |
OMIM:612955 |
Coproporphyria, Hereditary |
|
Tachycardia, Hypertension, Jaundice |
OMIM:121300 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, Fever |
ORPHA:52416 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes |
OMIM:612347 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Decreased circulating IgG level |
OMIM:235550 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy, Recurrent mycobacterial infections |
OMIM:616126 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia |
OMIM:615916 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Nephrocalcinosis, Abnormal urine sodium concentration, Hypertension, Decreased circu... |
ORPHA:320 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Hypercalciuria, Prolonged QT interval, Hypertension, Polydipsia, Left ventricular hy... |
ORPHA:251274 |
Lujo Hemorrhagic Fever |
|
Oliguria, Subconjunctival hemorrhage, Hypotension, Myocarditis, Elevated circulating C-reactive p... |
ORPHA:319213 |
Immunodeficiency 72 With Autoinflammation |
|
Recurrent otitis media, Recurrent infections, Increased circulating IgG level, Hepatosplenomegaly... |
OMIM:618982 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Recurrent upper respir... |
ORPHA:277 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:613424 |
Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent otitis media, Recurre... |
OMIM:607594 |
Immunodeficiency 52 |
|
Recurrent pneumonia, Recurrent infections, Coombs-positive hemolytic anemia, Autoimmune thrombocy... |
OMIM:617514 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Cardiomyopathy, Ventricular tachycardia |
OMIM:613873 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... |
OMIM:115200 |
Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... |
OMIM:611875 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hemophagocytosis, Colitis, Sple... |
OMIM:613101 |
Immunodeficiency 64 |
|
Decreased circulating IgG level, Recurrent infections, Hepatosplenomegaly, Increased circulating ... |
OMIM:618534 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular function, Congestive heart fail... |
ORPHA:300751 |
Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age |
OMIM:248110 |
Sepsis In Premature Infants |
|
Oliguria, Hypotension, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concen... |
ORPHA:90051 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Syncope, Tachycardia, Premature ventricular contraction |
OMIM:192445 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Cardiac arrest, Atrial fibrillation, Supraventricular tachycardia, Atriov... |
OMIM:612158 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Hypertension, Stage 5 chroni... |
OMIM:161950 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent oral herpes, Recurrent otitis media, Increased circulating IgG level, Increased circula... |
OMIM:619220 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... |
ORPHA:169154 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating IgA level,... |
OMIM:605258 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Proteinuria, Glomerulopathy, Hypert... |
ORPHA:84090 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Autosomal Recessive Polycystic Kidney Disease |
|
Oliguria, Enlarged kidney, Reduced renal corticomedullary differentiation, Gastrointestinal hemor... |
ORPHA:731 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Recurrent infections, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia,... |
OMIM:150550 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced ejection fraction, Arrhythmia, Decreased urine output, Acute kidney injury, Elevated circ... |
ORPHA:542323 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Cervical lymphadenopathy, Abnor... |
OMIM:618987 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Lymphocytosis, Skin rash, Chronic mucocutaneous candidiasis, Abnorma... |
ORPHA:911 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, H... |
ORPHA:444463 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute k... |
OMIM:235400 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polydipsia, Hydronephrosis, Hypokalemia, Polyuria |
OMIM:304900 |
Adenocarcinoma Of The Esophagus |
|
Barrett esophagus, Obesity, Esophageal carcinoma |
ORPHA:99976 |
Carcinoma Of Esophagus |
|
Obesity, Esophageal neoplasm, Barrett esophagus, Weight loss |
ORPHA:70482 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Arrhythmia, Sick sinus syndrome |
OMIM:617182 |
Long Qt Syndrome 15 |
|
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval |
OMIM:616249 |
Infection-Related Hemolytic Uremic Syndrome |
|
Oliguria, Hyponatremia, Decreased urine output, Acute kidney injury, Anuria, Hyperkalemia, Hypoca... |
ORPHA:544482 |
Caspase 8 Deficiency |
|
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... |
OMIM:607271 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... |
OMIM:600858 |
Attrv30M Amyloidosis |
|
Arrhythmia, Cardiomyopathy, Abnormal renal physiology, Nephropathy, Atrioventricular block, Cardi... |
ORPHA:85447 |
Familial Dilated Cardiomyopathy |
|
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... |
ORPHA:217607 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... |
OMIM:608567 |
Immunodeficiency 76 |
|
T lymphocytopenia, Recurrent pneumonia, Colitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia... |
OMIM:619164 |
Long Qt Syndrome 8 |
|
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... |
OMIM:618447 |
Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial tachyc... |
OMIM:614022 |
Oligomeganephronia |
|
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Elevated circulating crea... |
ORPHA:2260 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Nephronophthisis 4 |
|
Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedu... |
OMIM:606966 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... |
OMIM:606843 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Hypertension, Nephropathy |
OMIM:105200 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Peripartum Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... |
ORPHA:563 |
Hypercalcemia, Infantile, 2 |
|
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Polyuria, Medullary nephrocalcinosis, Hypophosph... |
OMIM:616963 |
Romano-Ward Syndrome |
|
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... |
ORPHA:101016 |
Nephronophthisis 3 |
|
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... |
OMIM:604387 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent infections, Fever, Increased circulating antibody level, Lymphadenopathy, Thrombocytope... |
OMIM:618048 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Fever, Abnormal B cell count, Anemia, Increased circulating antibody level, Lymphad... |
ORPHA:100024 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Fever, Neutropenia, Anemia, Lymphadenopathy, Thrombocytopenia, Co... |
OMIM:603552 |
Exercise-Induced Malignant Hyperthermia |
|
Oliguria, Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, Acute kidney injury, Hyper... |
ORPHA:466650 |
Left Ventricular Noncompaction 1 |
|
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Ve... |
OMIM:604169 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Fever, Conjunctivitis, Lymphadenopathy, Arthritis, Periodic fever |
OMIM:617772 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Hypotension, Postural hypotension with compensatory tachycardia |
ORPHA:369873 |
Brugada Syndrome 2 |
|
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... |
OMIM:611777 |
Cholera |
|
Hypovolemic shock, Hypokalemia, Hyponatremia, Decreased urine output, Acute kidney injury, Abnorm... |
ORPHA:173 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Autoimmune t... |
OMIM:608184 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... |
OMIM:240500 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Infant Acute Respiratory Distress Syndrome |
|
Bradycardia, Tachycardia, Hypotension, Cardiac arrest |
ORPHA:70587 |
Short Qt Syndrome 2 |
|
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... |
OMIM:609621 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Long Qt Syndrome 14 |
|
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... |
OMIM:616247 |
Aa Amyloidosis |
|
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormality of the kidney,... |
ORPHA:85445 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Palpitations, Hypertension, Decreased circulating renin level, Polydipsia, Increased... |
ORPHA:231580 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Proteinuria, Hypertension, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal... |
OMIM:603278 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Increased circulating IgG level, Thrombocytosis,... |
OMIM:209950 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections,... |
OMIM:608106 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Onychomycosis, Lymphadenopathy, Chronic oral candidiasis, Increased circulatin... |
OMIM:212050 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Atrioven... |
OMIM:212138 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... |
ORPHA:2041 |
Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Recurrent pneumonia, Recurrent infections, Hepatosplenomegaly, Uveitis, Hemophagocy... |
OMIM:615122 |
Progressive Familial Heart Block, Type Ib |
|
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... |
OMIM:604559 |
Gitelman Syndrome |
|
Hypokalemia, Hypomagnesemia, Ventricular tachycardia, Increased circulating renin level, Renal ma... |
OMIM:263800 |
Immunodeficiency 7 |
|
Recurrent infections, Hypereosinophilia, Lymphadenopathy |
OMIM:615387 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Proteinuria, Hypertension, Nephroblastoma, Nephropathy |
ORPHA:220 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Arrhythmia, Sick sinus syndrome |
OMIM:617173 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... |
OMIM:174000 |
Naxos Disease |
|
Paroxysmal ventricular tachycardia, Arrhythmia, Congestive heart failure, Sudden cardiac death, C... |
ORPHA:34217 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia, Hypertension, Polydipsia, Intracranial hemorrhage, Epistaxis |
ORPHA:403 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Increased serum serotonin, Chronic noninfectious lymphadenopa... |
ORPHA:100083 |
Selective Igm Deficiency |
|
Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rheumatoid arthritis, Recurr... |
ORPHA:331235 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Decreased urine output, Hematuria, Congestive heart failure, Hyperkale... |
ORPHA:31826 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... |
OMIM:608751 |
Tako-Tsubo Cardiomyopathy |
|
ST segment elevation, Ventricular fibrillation, Arrhythmia, Bradycardia, T-wave inversion, ST seg... |
ORPHA:66529 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hypothyroidism, Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody leve... |
OMIM:606367 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Decreased circulating IgG level, Hypothyroidism, Recurrent otitis media, Uveitis, C... |
OMIM:614700 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Second degree atrioventricular block, Hypokalemia, Nephrolithiasis, Pulmonary arterial hypertensi... |
ORPHA:369929 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... |
OMIM:171420 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... |
ORPHA:263297 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Hypercholesterolemia, Abnormal glo... |
ORPHA:567548 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Premature atrial contractions, Atr... |
OMIM:611493 |
Bartter Syndrome, Type 3 |
|
Impaired reabsorption of chloride, Hypokalemia, Increased circulating renin level, Polyuria, Rena... |
OMIM:607364 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Recurrent fever |
OMIM:618852 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Syncope, Tachycardia, Hypertrophic cardiomyopathy, Palpitations |
ORPHA:276556 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Lymphadenopathy, Fever |
ORPHA:158014 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
Nephrogenic Diabetes Insipidus |
|
Hydroureter, Hypovolemia, Enuresis nocturna, Functional abnormality of the bladder, Hyposthenuria... |
ORPHA:223 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... |
ORPHA:276 |
Senior-Loken Syndrome 3 |
|
Nephronophthisis, Enuresis, Polyuria, Renal corticomedullary cysts, Polydipsia, Stage 5 chronic k... |
OMIM:606995 |
Spinocerebellar Ataxia Type 27 |
|
Hand tremor, Akinesia, Aggressive behavior, Gait ataxia, Limb ataxia, Gait disturbance, Truncal a... |
ORPHA:98764 |
Hypomagnesemia 3, Renal |
|
Renal tubular acidosis, Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Hematuria, Nep... |
OMIM:248250 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Recurrent infections, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomeg... |
OMIM:614470 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Increased circulating lactate dehydrogenase concentration, Elevated hepat... |
OMIM:600649 |
Omenn Syndrome |
|
Eosinophilia, Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Splenomegaly... |
OMIM:603554 |
Leber Hereditary Optic Neuropathy |
|
Ventricular preexcitation, Retinal telangiectasia, Arrhythmia |
ORPHA:104 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
ORPHA:293964 |
Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Infantile hypercalcemia, Pulmonic st... |
OMIM:143880 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Decreased eosinophil count, Peritonitis, Periodontitis, Thr... |
ORPHA:2686 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Myositis, Arthritis, Increased inflammatory response, Fever, Acne, Increased cir... |
ORPHA:69126 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... |
OMIM:609040 |
Progressive Familial Heart Block, Type Ii |
|
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... |
OMIM:140400 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria |
ORPHA:514 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope |
OMIM:600919 |
Immunodeficiency 55 |
|
Recurrent infections, Recurrent skin infections, Neutropenia, Eczema, Lymphadenopathy |
OMIM:617827 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, ... |
OMIM:619375 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... |
OMIM:613243 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... |
OMIM:616201 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Pneumonia, Erythema nodosum, Cutaneous ... |
ORPHA:3392 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Syncope, Tachycardia, Hypertrophic cardiomyopathy, Palpitations |
ORPHA:276575 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... |
OMIM:108950 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Crohn's disease, Hepatosplenomegaly, Lymphadenitis, Acute pancreatitis, Recu... |
OMIM:618935 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Decreased circulating total IgM, Crohn's disease, Recurrent uppe... |
OMIM:616100 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Syncope, Tachycardia, Hypertrophic cardiomyopathy, Palpitations |
ORPHA:276580 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Palpitations, Tachycardia |
OMIM:613239 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Hemophagocyt... |
OMIM:308240 |
Snakebite Envenomation |
|
Cardiogenic shock, Hypotension, Myocardial infarction, Cerebral ischemia, Tachycardia, Intracrani... |
ORPHA:449285 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... |
OMIM:619464 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Abnormally low T cell rece... |
OMIM:618986 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Acute kidney injury, An... |
ORPHA:90038 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia |
OMIM:188580 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Decreased circulating IgG level, Recurrent pneumonia, Hepatosplenomegaly, Decreased... |
ORPHA:169160 |
Immunodeficiency 61 |
|
Obesity, Colon cancer |
OMIM:300310 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Pollakisuria |
ORPHA:95626 |
Schnitzler Syndrome |
|
Leukocytosis, Increased circulating IgM level, Splenomegaly, Fever, Anemia, Lymphadenopathy, Arth... |
ORPHA:37748 |
Pfapa Syndrome |
|
Infectious encephalitis, Splenomegaly, Lymphadenopathy, Recurrent pharyngitis, Abnormality of tem... |
ORPHA:42642 |
Juvenile Nephropathic Cystinosis |
|
Glycosuria, Hypokalemia, Elevated circulating creatinine concentration, Proteinuria, Hypouricemia... |
ORPHA:411634 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatosplenomegaly, Recurrent skin infections, Recurrent bacterial infections, Sple... |
OMIM:612840 |
Paragangliomas 3 |
|
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia |
OMIM:605373 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Hypotension |
OMIM:203400 |
Acquired Methemoglobinemia |
|
Syncope, Tachycardia, Arrhythmia, Palpitations |
ORPHA:464453 |
Alpha-Heavy Chain Disease |
|
Dysgammaglobulinemia, Splenomegaly, Fever, Anemia, Lymphadenopathy |
ORPHA:100025 |
Long Qt Syndrome 16 |
|
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval |
OMIM:618782 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Fever, Ataxia |
ORPHA:98293 |
Dopa-Responsive Dystonia |
|
Dystonia, Generalized dystonia, Abnormal social behavior, Oculogyric crisis, Agoraphobia, Anxiety... |
ORPHA:255 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Congestive heart failure, Hypophosphatemic rickets, Myocardial infarction, Hype... |
OMIM:614473 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopa... |
OMIM:617713 |
Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Relapsing Fever |
|
Increased circulating lactate dehydrogenase concentration, Hypotension, Jaundice, Elevated hepati... |
ORPHA:91547 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Erythema nodosum, Splenomegaly, Recurrent aphthous stomatitis, Lymphadenopathy, Art... |
OMIM:611762 |
Naxos Disease |
|
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... |
OMIM:601214 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Tachycardia, Palpitations |
ORPHA:324575 |
Senior-Boichis Syndrome |
|
Reduced renal corticomedullary differentiation, Portal hypertension, Abnormal renal insterstitial... |
ORPHA:84081 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
Cystinosis |
|
Hypokalemia, Portal hypertension, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Nephropa... |
ORPHA:213 |
East Syndrome |
|
Hypokalemia, Hypomagnesemia, Increased circulating renin level, Renal magnesium wasting, Enuresis... |
ORPHA:199343 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Recurrent abscess formation, Anemia, Thrombocytopenia, Chronic mucocutaneous candid... |
ORPHA:79124 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Jervell And Lange-Nielsen Syndrome |
|
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval |
ORPHA:90647 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Reduced ejection fraction, Arrhythmi... |
ORPHA:85451 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:158061 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Aortic regurgitation, Systolic heart murmur, Conges... |
ORPHA:3092 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation, Arrhythmia |
OMIM:614302 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular septal hypertrophy, Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyop... |
OMIM:115197 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypokalemia, Hypomagnesemia, Increased circulating renin level, Enuresis, Polyuria, Renal salt wa... |
OMIM:612780 |
Felty Syndrome |
|
Abnormal lymphocyte morphology, Recurrent pneumonia, Sinusitis, Recurrent infections, Bone marrow... |
ORPHA:47612 |
Central Precocious Puberty |
|
Hypothalamic hamartoma, Obesity, Increased body weight, Overgrowth |
ORPHA:759 |
Thymic Aplasia |
|
Hypothyroidism, Atypical or prolonged hepatitis, Recurrent urinary tract infections, Aplasia of t... |
ORPHA:83471 |
Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Hypotensi... |
ORPHA:556037 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Increased circulating IgE level |
ORPHA:482 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Decreased circulating IgG level, Recurrent infections, Leukopenia, Autoimmune hemol... |
OMIM:613011 |
Omenn Syndrome |
|
Abnormal lymphocyte morphology, Eosinophilia, Hypothyroidism, Leukocytosis, Pneumonia, Splenomega... |
ORPHA:39041 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia |
OMIM:300952 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure |
ORPHA:90037 |
Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Hypercalciuria, Polyuria, Splenomegaly, Hyperphosphaturia, Hepatomegaly, Aminoacid... |
OMIM:239200 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval |
OMIM:618052 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Recurrent infections, Lymphadenopathy |
OMIM:615895 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Fever |
ORPHA:86893 |
Nephronophthisis 11 |
|
Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Renal tubular atrophy, Rena... |
OMIM:613550 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Hyperuricemia, P... |
OMIM:613845 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial in... |
ORPHA:169090 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Hypernatremia, Polyuria, Megacystis |
OMIM:125800 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... |
OMIM:609620 |
Stiff-Person Syndrome |
|
Tachycardia, Hypertension, Exaggerated startle response |
OMIM:184850 |
Atrial Septal Defect, Ostium Secundum Type |
|
Atrial flutter, Systolic heart murmur, Abnormal left ventricular function, Congestive heart failu... |
ORPHA:99103 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Hypernatremia, Polyuria, Megacystis |
OMIM:304800 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... |
ORPHA:1329 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Hypertension |
OMIM:613870 |
Adiposis Dolorosa |
|
Painful subcutaneous lipomas, Obesity |
OMIM:103200 |
Paragangliomas 1 |
|
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia |
OMIM:168000 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Spinocerebellar Ataxia 21 |
|
Dystonia, Intention tremor, Ataxia, Akinesia, Aggressive behavior, Progressive cerebellar ataxia,... |
OMIM:607454 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Autoimmune hemolyt... |
ORPHA:331206 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Chronic hepatitis, Hepatitis, Thrombocytopenia, Sclerosing chola... |
OMIM:308230 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypercholesterolemia, Hypotension, Hypoalbuminemi... |
OMIM:616000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Central Diabetes Insipidus |
|
Polydipsia, Nocturia, Hyponatremia |
ORPHA:178029 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... |
OMIM:603909 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Chronic kidney disease, Hy... |
OMIM:123550 |
Congenital Tricuspid Stenosis |
|
Congestive heart failure, Tricuspid stenosis, Hypotension, Pulmonary arterial hypertension, Heart... |
ORPHA:95459 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria, Hypertension, Cer... |
OMIM:618886 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Syncope, Dilated cardiomyopathy, Tachycardia |
OMIM:615821 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Hypertension |
OMIM:611489 |
Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Hypotensi... |
ORPHA:556030 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Adrenocorticotropic hormone excess, Recurrent viral infections, Splenomega... |
OMIM:609981 |
Autoimmune Lymphoproliferative Syndrome |
|
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... |
OMIM:601859 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Dextrocardia, Situs inversus totalis, Polycystic k... |
OMIM:613095 |
Immunodeficiency 10 |
|
Recurrent infections, Autoimmune hemolytic anemia, Recurrent bacterial infections, Lymphadenopath... |
OMIM:612783 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal enzyme/coenzyme activity, Tachycardia |
ORPHA:79264 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Uveitis, Anemia, Lymphadenopathy, Arthritis, Recu... |
OMIM:607115 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Jaundice, Congestive heart failure |
ORPHA:90033 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Pyelonephritis, Renal cortical hyperechogenicity, Anuria, Megacystis, Bidirectional shunt, Elevat... |
OMIM:619351 |
Bardet-Biedl Syndrome 17 |
|
Renal cyst, Micropenis, Polyuria, Dextrocardia, Situs inversus totalis, Polydipsia, Stage 5 chron... |
OMIM:615994 |
Proximal Renal Tubular Acidosis |
|
Glycosuria, Hypovolemia, Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hyperca... |
ORPHA:47159 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Jaundice, ... |
ORPHA:26793 |
Ebstein Anomaly |
|
Ventricular preexcitation, Atrial standstill, Sudden cardiac death, Right bundle branch block, At... |
OMIM:224700 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormality of the lymph nodes, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... |
ORPHA:319487 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Increased circulating NT-proBNP concentration, Left ventricular diastol... |
ORPHA:57777 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Short stepped shuffling gait, Loss of ability to walk, Blepharospasm, Akinesia,... |
ORPHA:240094 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia, Elevated hepatic transaminase, Decreased liver func... |
OMIM:616299 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Cardiomegaly, Right ventricular hypertrophy, Congestive hear... |
ORPHA:860 |
Brugada Syndrome 5 |
|
ST segment elevation, Ventricular fibrillation, Bundle branch block |
OMIM:612838 |
Aregenerative Anemia |
|
Pancytopenia, Bone marrow hypocellularity, Abnormality of interleukin secretion, Abnormal proport... |
ORPHA:101096 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... |
OMIM:233710 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Fever |
ORPHA:545 |
Familial Hypoaldosteronism |
|
Hypovolemia, Orthostatic hypotension, Hyponatremia, Decreased urinary potassium, Increased circul... |
ORPHA:427 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Congestive heart failure, Splenomegaly, Hepatomegaly, Conjugated hyperbilirub... |
OMIM:269920 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypokalemia, Polyuria, Renal magnesium wasting, Renal potassium wasting, Hypomagnesemia |
OMIM:618314 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Increased circulating ant... |
ORPHA:507 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... |
ORPHA:3226 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Chronic hepa... |
OMIM:614921 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Transient hyperlipidemia, Arrhythmia, Hepatomegaly, Elevated circulating ... |
OMIM:255120 |
Duplication Of Urethra |
|
Bladder duplication, Penile hypospadias, Chordee, Unilateral renal hypoplasia, Dysuria, Micropeni... |
ORPHA:237 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Renal salt wasting, Hypotension, Hyponatremia |
OMIM:264350 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Splenomegaly, Fever, Ataxia, Lymphadenopathy, Skin rash |
ORPHA:391 |
Helix Syndrome |
|
Hypokalemia, Nephrolithiasis, Polyuria, Renal insufficiency, Polydipsia, Hypermagnesemia, Hypocal... |
OMIM:617671 |
Aceruloplasminemia |
|
Dystonia, Blepharospasm, Tremor, Ataxia, Akinesia, Craniofacial dystonia, Gait ataxia, Apathy, Di... |
ORPHA:48818 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... |
OMIM:163800 |
Familial Atrial Myxoma |
|
Cardiac myxoma, Congestive heart failure, Bacterial endocarditis, Heart murmur, Pulmonic valve my... |
ORPHA:615 |
Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Monocytosis, Hepatosplenomegaly, Hemophagocytosis, Maculopapular exanthema, ... |
OMIM:619644 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia |
OMIM:600996 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... |
OMIM:233690 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... |
OMIM:613426 |
Tetanus |
|
Bradycardia, Tachycardia, Hypertension |
ORPHA:3299 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormality of the lymph nodes, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... |
ORPHA:97290 |
Myotonic Dystrophy 2 |
|
Palpitations, Tachycardia |
OMIM:602668 |
Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenom... |
ORPHA:100026 |
Refsum Disease, Classic |
|
Arrhythmia, Congestive heart failure, Cardiomyopathy, Abnormal renal physiology, Cardiomegaly, El... |
OMIM:266500 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Reduced n... |
ORPHA:540 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Hypertension, Renal insuffi... |
OMIM:618061 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Systolic heart murmur, Patent foramen ovale, Congestive heart failure, ... |
ORPHA:439 |
Roifman Syndrome |
|
Eosinophilia, Hypogonadotropic hypogonadism, Recurrent otitis media, Hepatosplenomegaly, Recurren... |
ORPHA:353298 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Hypothyroidism, Type I diabetes mellitus, Arthritis, Coombs-positive hemolytic anem... |
OMIM:304790 |
Mercury Poisoning |
|
Tachycardia, Hypotension, Hypertension |
ORPHA:330021 |
Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Dystonia, Shuffling gait, Resting tremor, Inability to walk, Akines... |
ORPHA:391411 |
Serotonin Syndrome |
|
Tachycardia, Hypotension, Hepatic failure, Hypertension |
ORPHA:43116 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia, Renal insufficiency |
OMIM:615986 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... |
OMIM:306400 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
Stiff Person Spectrum Disorder |
|
Hypothyroidism, Anxiety, Agoraphobia, Emotional lability, Diabetes mellitus, Exaggerated startle ... |
ORPHA:3198 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... |
OMIM:601419 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hypercalciuria, Poly... |
OMIM:300971 |
Bartter Syndrome, Type 2, Antenatal |
|
Hypokalemia, Nephrocalcinosis, Hypomagnesemia, Hypochloremia, Hyposthenuria, Hypercalciuria, Incr... |
OMIM:241200 |
Mast Cell Sarcoma |
|
Mediastinal lymphadenopathy, Mastocytosis, Splenomegaly, Lymphadenopathy |
ORPHA:66661 |
Yellow Fever |
|
Reduced ejection fraction, Elevated circulating creatinine concentration, Acute kidney injury, An... |
ORPHA:99829 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Recurrent infections, Myositis, Arthritis, Splenomegaly, Thrombocytopenia, Increased c... |
OMIM:617591 |
Danon Disease |
|
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, ... |
OMIM:300257 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Sudden Cardiac Failure, Infantile |
|
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure |
OMIM:617222 |
Boutonneuse Fever |
|
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exant... |
ORPHA:83313 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Generalized lymphadenopathy, Recurrent mycobacterium avium co... |
OMIM:615978 |
Manganese Poisoning |
|
Dystonia, Akinesia, Aggressive behavior, Emotional lability, Irritability, Gait disturbance, Post... |
ORPHA:306682 |
Andersen-Tawil Syndrome |
|
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Tor... |
ORPHA:37553 |
Pheochromocytoma |
|
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... |
OMIM:171300 |
Rhabdoid Tumor |
|
Fever, Anemia, Irritability, Lymphadenopathy, Thrombocytopenia |
ORPHA:69077 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Hypotension, Myocarditis, Myocardial infarction, Splen... |
ORPHA:3452 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Splenomegaly, Eczema, Lymphadenopathy, Skin rash |
ORPHA:2584 |
Cocaine Intoxication |
|
Hypovolemia, Increased circulating lactate dehydrogenase concentration, Diffuse alveolar hemorrha... |
ORPHA:90068 |
Postencephalitic Parkinsonism |
|
Happy demeanor, Resting tremor, Oculogyric crisis, Abnormal aggressive, impulsive or violent beha... |
ORPHA:97349 |
Legionnaires Disease |
|
Bone marrow hypocellularity, Infectious encephalitis, Endocarditis, Splenomegaly, Fever, Ataxia, ... |
ORPHA:549 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
T lymphocytopenia, Recurrent otitis media, Pneumonia, Recurrent upper respiratory tract infection... |
OMIM:600802 |
Timothy Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Hypocalcemia, Prolonged QT interval, Ventricular septa... |
OMIM:601005 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Elevated circulating alkaline phosphatase concentration, Elevated hepatic transaminase |
ORPHA:263455 |
X-Linked Lymphoproliferative Disease |
|
Pancytopenia, Decreased circulating IgG level, Histiocytosis, Absent natural killer cells, Increa... |
ORPHA:2442 |
Griscelli Syndrome |
|
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Fever, Decreased circulating antibody leve... |
ORPHA:381 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyponatremia, Hypochloremia, Decreased glomerular filtration rate, Polyuria, Renal s... |
OMIM:613090 |
Perry Syndrome |
|
Suicidal ideation, Dystonia, Short stepped shuffling gait, Anxiety, Akinesia, Apathy, Tremor |
OMIM:168605 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Pica, Hypotension |
OMIM:618480 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Fever, Anemia, Liver abscess, Abnormality of the lymph nodes, Abnormality of the ly... |
ORPHA:54251 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent infections, Paratracheal lymphadenopathy, Leukopenia, Increased circulating IgG level, ... |
OMIM:615934 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Recurrent otitis media, Hashimoto thyroiditis, Anemia, Lymphopenia, Skin rash, Leuk... |
OMIM:615688 |
Histiocytoid Cardiomyopathy |
|
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... |
ORPHA:137675 |
Primary Hyperoxaluria Type 3 |
|
Nephrocalcinosis, Hematuria, Dysuria, Abnormality of urine homeostasis, Abnormal renal physiology... |
ORPHA:93600 |
Pediatric-Onset Graves Disease |
|
Sinus tachycardia, Congestive heart failure, Polydipsia, Splenomegaly, Hepatomegaly, Palpitations... |
ORPHA:525731 |
Gitelman Syndrome |
|
Hypokalemia, Proteinuria, Hypomagnesemia, Renal tubular acidosis, Ventricular fibrillation, Hypoc... |
ORPHA:358 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Reduced renal corticomedullary differentiation, Hyponatremia, Hypochloremia, Decreas... |
OMIM:602522 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
Sickle Cell Anemia |
|
Hematuria, Splenomegaly, Hepatomegaly, Hypertension, Renal insufficiency, Cardiomegaly |
OMIM:603903 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypothyroidism, Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Hepa... |
ORPHA:37042 |
Hsd10 Disease |
|
Gait disturbance, Tremor, Ataxia, Abnormal social behavior |
ORPHA:391417 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Cardiomy... |
OMIM:261740 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypokalemia, Nephrocalcinosis, Hypochloremia, Hyposthenuria, Hypercalciuria, Increased circulatin... |
OMIM:601678 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Mastocytosis, Maculopapular exanthema, Splenomegaly, Increased pro... |
ORPHA:98848 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Reduced ejection fraction, Abnormal EKG, Right bundle branch block, Elevated circul... |
ORPHA:268 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Fever, Lymphadenopathy, Pericarditis, Anterior uveitis, Skin rash, Juvenile rheumat... |
ORPHA:85414 |
Infant Botulism |
|
Cardiac arrest, Hyponatremia, Hypotension, Hypertension, Dysphagia |
ORPHA:178478 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Congestive heart failure, Hypertrophic cardiomyopathy, Decreased plas... |
OMIM:212140 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Reduced ejection fraction, Hypertrophic cardiomyopathy, Sudden cardiac death, Hepatomegaly, Decre... |
OMIM:201475 |
Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Proteinuria, Splenomegaly, Hepatomegaly, Increa... |
OMIM:256550 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Atrial fibrillation, Elevated hepatic transaminase, Bradycardia, Tachycardia |
OMIM:613327 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
Heme Oxygenase 1 Deficiency |
|
Thrombocytosis, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Asp... |
OMIM:614034 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
Alport Syndrome 3, Autosomal Dominant |
|
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... |
OMIM:104200 |
Beta-Thalassemia |
|
Microcytic anemia, Hypogonadotropic hypogonadism, Splenomegaly, Anemia, Irritability, Hepatitis, ... |
ORPHA:848 |
Primary Myelofibrosis |
|
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Fever, Thrombocytop... |
ORPHA:824 |
Neuroleptic Malignant Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Arrhythmia, Pulmonary embolism, Hypote... |
ORPHA:94093 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
ORPHA:453533 |
Chediak-Higashi Syndrome |
|
Recurrent infections, Leukopenia, Giant neutrophil granules, Hemophagocytosis, Periodontitis, Spl... |
OMIM:214500 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Cardiomegaly, Cystic renal dysplasia, Hyperlipidemia, Decreased p... |
ORPHA:228308 |
Parkinson Disease 17 |
|
Resting tremor, Akinesia, Tremor |
OMIM:614203 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia |
OMIM:239350 |
Porphyria Variegata |
|
Abnormal enzyme/coenzyme activity, Tachycardia, Hypertension, Elevated hepatic transaminase |
ORPHA:79473 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Cardiomegaly, Arrhythmia, Congestive heart failure,... |
OMIM:235200 |
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly |
|
Premature ventricular contraction |
OMIM:133750 |
Scrub Typhus |
|
Infectious encephalitis, Splenomegaly, Fever, Myocarditis, Tremor, Lymphadenopathy, Anterior uvei... |
ORPHA:83317 |
Neuroendocrine Tumor Of The Colon |
|
Hypotension, Melena, Right ventricular failure, Elevated hepatic transaminase, Palpitations, Tric... |
ORPHA:100080 |
Niemann-Pick Disease, Type A |
|
Microcytic anemia, Inability to walk, Splenomegaly, Athetosis, Recurrent respiratory infections, ... |
OMIM:257200 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Fever, Tubulointers... |
ORPHA:139402 |
Scorpion Envenomation |
|
Increased circulating lactate dehydrogenase concentration, Arrhythmia, Premature ventricular cont... |
ORPHA:466677 |
Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Progressive cerebellar ataxia, Akinesia, Tremor |
ORPHA:98773 |
Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Decreased proportion of CD4-positive helper T cells, Abnormality ... |
ORPHA:543 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Tachycardia, Hypertrophic cardiomyopathy |
ORPHA:368 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hypotension, Increased circulating renin level, Hyponatremia |
OMIM:177735 |
Corticobasal Syndrome |
|
Dystonia, Akinesia, Limb dystonia, Gait disturbance, Tremor |
ORPHA:454887 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperprolinemia, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly, Hyperalaninemia |
OMIM:619064 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity |
ORPHA:71529 |
Adult-Onset Still Disease |
|
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, Fever, Generalized lymphad... |
ORPHA:829 |
Hyper-Igd Syndrome |
|
Recurrent infections, Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Increased circulating IgA ... |
OMIM:260920 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure |
ORPHA:49827 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertroph... |
OMIM:616878 |
Aorta Coarctation |
|
Tetralogy of Fallot, Cardiomegaly, Congestive heart failure, Pulmonary arterial hypertension, Hyp... |
ORPHA:1457 |
Kufor-Rakeb Syndrome |
|
Dystonia, Akinesia, Ataxia, Aggressive behavior, Gait disturbance, Torticollis, Tremor |
OMIM:606693 |
Sézary Syndrome |
|
Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Splenomegaly, Erythroderma, Lympha... |
ORPHA:3162 |
Tropical Endomyocardial Fibrosis |
|
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... |
ORPHA:75565 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
Good Syndrome |
|
Sinusitis, Recurrent skin infections, Decreased circulating antibody level, Bronchiectasis, Abnor... |
ORPHA:169105 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased circulating IgG level, Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD... |
ORPHA:3261 |
Infantile Nephropathic Cystinosis |
|
Glycosuria, Hypokalemia, Renal Fanconi syndrome, Renal tubular dysfunction, Abnormal blood ion co... |
ORPHA:411629 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased plasma total carnitine, Arrhythmia, Hepatomegaly, Elevated urinary 3-hydroxybutyric aci... |
ORPHA:42 |
Renal Dysplasia |
|
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... |
ORPHA:93108 |
Malignant Hyperthermia Of Anesthesia |
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Ventricular tachycardia, High-output congestive heart failure, Premature ventricular contraction,... |
ORPHA:423 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Leukocytosis, Increased circulating IgM level, Increased circulating IgA level, Neutrophilia, Inc... |
OMIM:617099 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Pancytopenia, Leukopenia, Hepatosplenomegaly, Reduced natural killer cell activity, Hemophagocyto... |
OMIM:603553 |
Cystinosis, Nephropathic |
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Glycosuria, Hypokalemia, Proteinuria, Polyuria, Hypophosphatemic rickets, Dysphagia, Microscopic ... |
OMIM:219800 |
Bardet-Biedl Syndrome 22 |
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Large for gestational age, Obesity |
OMIM:617119 |
Hereditary Coproporphyria |