Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... |
OMIM:613027 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormality of the kidney, Proteinuria... |
ORPHA:369 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... |
OMIM:614480 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hepatic... |
ORPHA:71212 |
Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Short stature, Elevated circulating cr... |
OMIM:232400 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... |
OMIM:208540 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Abnormal... |
ORPHA:446 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Dietary Iron Overload Disease |
|
Viral hepatitis, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... |
ORPHA:139507 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hypoglyc... |
OMIM:231530 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Decreased activity of mitochondrial complex III, Hepatocellular necrosis, Hypoalbuminemia, Decrea... |
OMIM:251880 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... |
OMIM:615770 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... |
OMIM:607361 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Short s... |
OMIM:620010 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch... |
OMIM:602114 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Hepatic f... |
OMIM:278000 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Increased ci... |
OMIM:613313 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Short stature, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia |
ORPHA:329249 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Hypertriglyceridemia, Insulin-resi... |
OMIM:608600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:619048 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Polycystic ovaries, Insulin-resistant diabetes mellitus a... |
ORPHA:280356 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Left superior v... |
OMIM:613759 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Fulminant hepatic failure, Hepatomegaly, Decreased activity of mitochondrial ATP synthase complex... |
OMIM:609060 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Prolonged prothrombin time, 3-Methylglutaconic acidu... |
OMIM:618329 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Abnormal circulati... |
ORPHA:79303 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Mater... |
OMIM:604367 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chilblains, Hepat... |
OMIM:619858 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Electron transfer flavoprotein-ubiquinon... |
OMIM:231680 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomega... |
OMIM:300635 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Eczema, Porphyrinuria |
OMIM:176090 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated... |
OMIM:201475 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... |
OMIM:271500 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, P... |
OMIM:267010 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
OMIM:610717 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... |
OMIM:619868 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... |
OMIM:603358 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... |
OMIM:619897 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce... |
OMIM:617093 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hepatic fibrosis, Fasting hypoglycemia, Hepat... |
ORPHA:264580 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Fanconi-Bickel Syndrome |
|
Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elevated circulating aspartate... |
ORPHA:2088 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Heart murmur, ... |
ORPHA:100093 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Short stature, Splenomegaly, Chronic kidney disease, Ch... |
OMIM:615630 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... |
OMIM:256810 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:294 |
Senior-Loken Syndrome |
|
Short stature, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney diseas... |
ORPHA:3156 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Increased circulating lactate de... |
ORPHA:26791 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of the bladder, B... |
OMIM:612284 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Hypocalcemia |
ORPHA:172 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Short stature, P... |
OMIM:208500 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Steatorrhea, Proximal tubulopathy, Hepatic fibrosis, Hypoalbuminemia, C... |
OMIM:602579 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatic steatosis, Hepatomegaly... |
OMIM:614921 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Nephronophthisis 16 |
|
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Cholestasis, Perip... |
OMIM:615382 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal... |
ORPHA:84081 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiac arrest, Ventricular... |
OMIM:212138 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:615158 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure |
ORPHA:60 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Short stature, Congenital hepatic fibrosis, Cryptorchid... |
ORPHA:2377 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Caroli Disease |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta... |
ORPHA:53035 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Increased circulat... |
ORPHA:79230 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly |
OMIM:618955 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Short stature, Portal hypertension, Hepatitis, Cholestasis, Severe postnatal... |
ORPHA:440713 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Skin rash, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Hypertension, Nephrot... |
OMIM:105200 |
Meckel Syndrome, Type 2 |
|
Intrauterine growth retardation, Bile duct proliferation, Renal cyst |
OMIM:603194 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Donohue Syndrome |
|
Postnatal growth retardation, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fi... |
OMIM:246200 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:214900 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abno... |
OMIM:216360 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Stroke, Hepatitis |
ORPHA:444463 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Duplicated collecting system, Diabetes mellitus, Cholestasis, Hepa... |
ORPHA:541423 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Cholestasis... |
OMIM:615415 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Failure t... |
OMIM:203700 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... |
ORPHA:79319 |
Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Bile duct proliferation, Renal cyst |
OMIM:611134 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis, Abnormality of the urinary system |
OMIM:213010 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Hypergalactosem... |
ORPHA:570422 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Renal cyst |
OMIM:611561 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketonuria, Short stature, Ketotic hypoglycemia, Hyperlipidemia, Gl... |
ORPHA:2089 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Secretory diarrhea, Hypoalbuminemia, Vomiting, Failure to thrive, ... |
OMIM:620357 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Cholestasis, Renal cyst... |
OMIM:261515 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... |
ORPHA:247585 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Elevated jugular venous pressure, Diabetes mellitus, Cholangiocarcinoma, Portal hyp... |
ORPHA:465508 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Mody |
|
Abnormality of the kidney, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin... |
ORPHA:552 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Recurrent skin infections, Hypoglycemia, Short stature, Herpes simplex encephalitis... |
OMIM:233600 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... |
OMIM:618641 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gl... |
OMIM:619534 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Decreased distal sensory nerve action potential, Hepatic steatosis... |
OMIM:618400 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Diarrhea, Steatorrhea, Growth delay, Vomitin... |
ORPHA:71 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Skin rash |
OMIM:619175 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... |
ORPHA:101330 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Uveitis, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of... |
ORPHA:171 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Proteinuria, Conjugated hyperb... |
OMIM:613404 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Recurrent urinary tract infections, Hypoglycemia, Short stature, P... |
OMIM:613658 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph... |
OMIM:616629 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatosplenomegaly, Hypocalcemia... |
OMIM:612526 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipi... |
ORPHA:1414 |
Lambert Syndrome |
|
Hypospadias, Jaundice, Cholestasis, Intrahepatic biliary atresia, Intrauterine growth retardation |
ORPHA:1296 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Short stature, Cholangitis, Rhi... |
OMIM:613610 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Optic atrophy, Intrauterine growth retardation,... |
ORPHA:26792 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglyce... |
ORPHA:2298 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine grow... |
OMIM:613370 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... |
OMIM:214950 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... |
ORPHA:2137 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Transient Neonatal Diabetes Mellitus |
|
Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Fanconi-Bickel Syndrome |
|
Elevated gamma-glutamyltransferase level, Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouric... |
OMIM:227810 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... |
ORPHA:731 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis, T... |
OMIM:616589 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice,... |
ORPHA:79301 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Decreased activity... |
OMIM:615453 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Growth delay, Hepatic f... |
OMIM:617341 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hepatic steatosis, Hepatomegaly, Chilblains, Porta... |
OMIM:619487 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Hypertension... |
OMIM:615862 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Hepatomegaly, Hypertriglyceridemia, Elevated circulating asparta... |
ORPHA:158061 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... |
ORPHA:449395 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Transaldolase Deficiency |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Micronodular cirrhosis, Coarctation of aort... |
OMIM:606003 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure... |
ORPHA:199296 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, ... |
ORPHA:91138 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala... |
OMIM:605911 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Ascites, A... |
OMIM:615710 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Elevated circulating creatine kinase concent... |
OMIM:615895 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R... |
ORPHA:422 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Foam cells with lamellar inclusion bodies,... |
OMIM:607616 |
Essential Fructosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating enzyme concentration or activity, Hypergl... |
ORPHA:2056 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... |
OMIM:208085 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, 3-Methylglutaconic aciduria, Hypoglycemia |
ORPHA:67046 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth... |
ORPHA:330001 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Abnormal circulating lipid concentration, Portal hypertension, Conjugate... |
ORPHA:186 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Joubert Syndrome 9 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease |
OMIM:612285 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Cryptorchidism, Hypertension, N... |
ORPHA:110 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Optic atrop... |
OMIM:264470 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Pulmonary arterial hypertension, Bradycardia, Decreased liver func... |
OMIM:616299 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Hypertriglyceridemia, Decreased HD... |
OMIM:151660 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... |
OMIM:203800 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Intrauterine growth retardation |
ORPHA:1980 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... |
OMIM:610199 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis, Hypertrop... |
ORPHA:848 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Chronic diarrhea, Weight loss, Acholic stools, Cholestat... |
ORPHA:65682 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati... |
OMIM:124000 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... |
ORPHA:562639 |
Lipodystrophy, Familial Partial, Type 6 |
|
Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal obesity, Abnormal c... |
OMIM:615980 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regurgitation, Decreased... |
OMIM:300972 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesi... |
OMIM:608836 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Elevated circulating creatinine concentra... |
OMIM:608104 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... |
OMIM:611182 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... |
ORPHA:53693 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Arteriosclerosis, Cirrhosis, Hypercho... |
ORPHA:75234 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Jaundice, Cardiac myxoma, Heart ... |
ORPHA:615 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... |
ORPHA:324575 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Precocious atherosclerosis, Renal salt wasting, Microvesicular hepatic st... |
ORPHA:275761 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p... |
OMIM:249000 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Jaundice, Adrenocorticotropic hormone deficiency, Cholestas... |
OMIM:201400 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Type I diabetes melli... |
OMIM:618549 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... |
OMIM:306000 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas... |
OMIM:618378 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac... |
ORPHA:829 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance, Multiple lipomas |
ORPHA:2398 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormal circulating lipid concentration, Short stature, Splenomegaly, Jaundice, He... |
ORPHA:381 |
Hyperbiliverdinemia |
|
Elevated circulating biliverdin concentration, Cholestasis, Decreased liver function, Cholelithia... |
OMIM:614156 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis, Intrauterine growth re... |
OMIM:614602 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Hypopituitarism, Diabetes mellitus, Hypersplenism, High-output congestive hea... |
ORPHA:231226 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Intrauterine growth retardation |
OMIM:601410 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Diarrhea, Low plasma citrulline, Abnormal blood ion concentration, Cholest... |
ORPHA:95427 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... |
ORPHA:2924 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Homoc... |
OMIM:238970 |
Loeffler Endocarditis |
|
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... |
ORPHA:75566 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... |
ORPHA:79234 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Decreased beta-galactosidase a... |
OMIM:230350 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Overweight, Intr... |
ORPHA:69663 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... |
ORPHA:3032 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Otitis media, R... |
OMIM:608971 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Renal cyst, Stroke-like e... |
OMIM:212065 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:614576 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Abnorm... |
ORPHA:1304 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Vomiting, Increas... |
OMIM:617872 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia, Hepatic steatosis, Hydronephrosis |
OMIM:615996 |
Mednik Syndrome |
|
Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Increased circulating very long-chain fat... |
OMIM:609313 |
Listeriosis |
|
Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Pustule, Congestive heart failure, Periton... |
ORPHA:533 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Hypertens... |
OMIM:610205 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Hepatomegaly, Decreased liver function, Renal cyst |
OMIM:614870 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Short stature, Recurr... |
ORPHA:47 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, T... |
ORPHA:494424 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly |
OMIM:614702 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Trimethylaminuria |
|
Splenomegaly, Hypertension, Tachycardia |
OMIM:602079 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Hepatosplenomegaly, Hypoalbum... |
OMIM:619013 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Hypospadias, Short stature, Abnormality of the pancreas, Sple... |
OMIM:222470 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Postnatal growth retardation, Insulin-resis... |
OMIM:248370 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Elevated hepatic transaminase, Hypoglycemia, Skin rash, Jaund... |
ORPHA:90062 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Growth delay, Aminoaciduria |
ORPHA:79238 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, De... |
ORPHA:276575 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... |
ORPHA:33110 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hypok... |
OMIM:619377 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number, Short stature, Mildly elevated creatine kinase |
ORPHA:457050 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertensi... |
ORPHA:90065 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Recurrent... |
ORPHA:444490 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Increased C-peptide level, Hypoglycemic seizure... |
ORPHA:276556 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Hypopituitarism, Diabetes mellitus, Hypersplenism, High-output ... |
ORPHA:231214 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice... |
ORPHA:549 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Increased circulati... |
OMIM:602390 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration |
OMIM:614876 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Maculopapular exanthema, Skin... |
ORPHA:398124 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Short stature, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, D... |
OMIM:262190 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Increased uri... |
ORPHA:2394 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Increased C-peptide level, Hyperinsulinemia, Hypogl... |
ORPHA:276580 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Ascites, Increased to... |
ORPHA:890 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... |
OMIM:613507 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Aceruloplasminemia |
|
Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Decreased circulating c... |
ORPHA:48818 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Jaundice, Increased circulating ferr... |
OMIM:603552 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentration, Hepatitis, He... |
OMIM:194380 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Caudate atrophy, Hypertriglyceridemia, Cerebral atrophy, Cirrhosis, Neuronal loss i... |
ORPHA:363400 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Abnormality of the liver, Decreased circulating carnitine concentration, Decreased ... |
ORPHA:254864 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Co... |
OMIM:617156 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:609015 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Organic aciduria, Propionyl-CoA carbo... |
ORPHA:35 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypertrophic cardiomyopathy, Hypoglycemia, Abno... |
OMIM:300438 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased activity of mitochondrial complex IV, Decr... |
OMIM:613561 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Short stature, Postnatal growth retardation... |
OMIM:616263 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Renal insufficiency, Glomerulonephritis, Lymphocytic intersti... |
ORPHA:289390 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of the kidney, Elevated circulating crea... |
ORPHA:79333 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Dark urine, Tachycardia, Pancreatitis, Jaundice, Elevated circulat... |
ORPHA:521219 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia, Prolonged neonatal jaundice |
ORPHA:95717 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Short stature, Splenomegaly, Growth delay, Hyperuricemia, Increased h... |
OMIM:261750 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... |
OMIM:618775 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Gastritis, Short stature, Splenomegaly, Patent ductus arterio... |
ORPHA:84064 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycys... |
ORPHA:79084 |
Congenital Enterovirus Infection |
|
Skin rash, Fetal ascites, Myocarditis, Hepatitis, Cholestasis, Hyperammonemia, Cardiomyopathy, Hy... |
ORPHA:292 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Cardiac arr... |
ORPHA:139402 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Retrobulbar optic neuritis, Hyperglycemia, Tachycardia, Intrauterine growth retardation |
OMIM:619737 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Increased urinary porphobilinoge... |
OMIM:121300 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Aminoac... |
OMIM:619991 |
Immunodeficiency 56 |
|
Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic hepatitis due to c... |
OMIM:615207 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, ... |
ORPHA:134 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegal... |
ORPHA:14 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... |
OMIM:301045 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis, ... |
OMIM:269200 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria, Short stature |
ORPHA:417 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short stature, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dys... |
OMIM:614091 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Sudden cardiac death, Renal tubular ac... |
ORPHA:156 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... |
OMIM:277900 |
Patent Ductus Venosus |
|
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia |
OMIM:601466 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperphosphaturia, Elevated circulating growth hormone concentra... |
ORPHA:562 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m... |
ORPHA:169160 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Eleva... |
OMIM:614727 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Cln3 Disease |
|
Left ventricular hypertrophy, T-wave inversion, Bradycardia |
ORPHA:228346 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Retinopathy, Hepatic steatosis, Bloody diarrhea |
OMIM:615119 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Decreased li... |
OMIM:246900 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Tachycard... |
ORPHA:39812 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Isch... |
ORPHA:679 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Increased hepatic glycogen content, Large for gestational age, Increased circula... |
ORPHA:293964 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Myelodysplasia, Hepatic necrosis, Interstitial pneumonitis, Squamous cell carcinoma of the skin, ... |
OMIM:127550 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem... |
ORPHA:36234 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Congestive heart fa... |
OMIM:235200 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Skin rash, Maculopapular exant... |
ORPHA:540 |
Cadds |
|
Elevated hepatic transaminase, Cholangitis, Cholestasis, Increased circulating very long-chain fa... |
ORPHA:369942 |
Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, CNS foam ce... |
ORPHA:333 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Increased cerebral lipofuscin, Hyperprolinemia, Cerebral atrophy, Hyperalaninemia, Hepatic steatosis |
OMIM:615918 |
Simple Cryoglobulinemia |
|
Myocardial infarction, Mesangial hypercellularity, Nephritis, Membranoproliferative glomeruloneph... |
ORPHA:91139 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Intrauterine gr... |
OMIM:613861 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Pigmentary retinopathy, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Hematological neoplasm, Keratitis... |
ORPHA:1163 |
Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Elevated circulating creatine kinase concentration, Ele... |
ORPHA:454836 |
Joubert Syndrome 37 |
|
Decreased testicular size, Hepatomegaly, Short stature, Cryptorchidism, Micropenis, Hydronephrosis |
OMIM:619185 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... |
ORPHA:1454 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hyperglycemia, Hypospadias |
OMIM:175700 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... |
ORPHA:3111 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Prominent superficial veins, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemi... |
OMIM:608612 |
3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Micr... |
OMIM:610198 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Rhizomelia, Optic nerve hypoplasia, Disproportio... |
OMIM:222765 |
Argininemia |
|
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Hyperammonemia, ... |
OMIM:207800 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Cirrhosis, Chro... |
OMIM:308230 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ... |
OMIM:115197 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:46532 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Lactic... |
ORPHA:3008 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Organic aciduria, Hypoglycemia |
OMIM:614741 |
Mulibrey Nanism |
|
Hepatomegaly, Short stature, Intrauterine growth retardation |
ORPHA:2576 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, 3-hydroxydicarboxylic aciduri... |
OMIM:613070 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Short stature, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Type I ... |
OMIM:613385 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Gro... |
OMIM:243910 |
Congenital Tufting Enteropathy |
|
Chronic diarrhea, Secretory diarrhea, Optic disc coloboma, Weight loss, Cholestatic liver disease... |
ORPHA:92050 |
Barth Syndrome |
|
Dilated cardiomyopathy, Abnormal mitochondrial morphology |
ORPHA:111 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Chro... |
OMIM:209920 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Arrhythmia, Bradycardia |
OMIM:609286 |
Alagille Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality o... |
ORPHA:52 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... |
OMIM:207900 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Enteric Anendocrinosis |
|
Type I diabetes mellitus, Cholestatic liver disease, Portal hypertension |
ORPHA:83620 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... |
OMIM:617397 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Thyroiditis, Hepatitis, H... |
ORPHA:228426 |
Spondyloenchondrodysplasia |
|
Enchondroma, Skin rash, Pneumonia, Proteinuria, Decreased response to growth hormone stimulation ... |
ORPHA:1855 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypoketotic h... |
ORPHA:5 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Proteinuria, Short stature, Decreased ... |
OMIM:232200 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperalaninemia, Cardiomegaly, Decreased activity of... |
OMIM:619064 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... |
ORPHA:42 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Hepatomegaly, Hypocholesterolemia, Splenomegaly |
OMIM:610539 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T... |
ORPHA:228308 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Peritonitis, Bradycardia, Hypotension, Abnormal glucose homeostasis, Hypergl... |
ORPHA:391673 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Duplicated collecting system, Hypospadias, Short sta... |
OMIM:301056 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Macular atrop... |
OMIM:619418 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Short stature, Renal cyst |
ORPHA:2031 |
Pancreatic Colipase Deficiency |
|
Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Moderate postnat... |
ORPHA:69076 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:212140 |
Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypoglycemia, Hyperinsulinem... |
ORPHA:79237 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:619386 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Immunodeficiency 48 |
|
Splenomegaly, Hepatomegaly, Eczematoid dermatitis, Pneumonia |
OMIM:269840 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Medial calcification of large arteries, Functional abnorma... |
ORPHA:391487 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Polycystic kidney dysplasia |
OMIM:263210 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block |
OMIM:614407 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, ... |
ORPHA:199299 |
Lichen Planopilaris |
|
Neoplasm of the oral cavity, Hepatitis |
ORPHA:525 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Short stature, Gastroesophageal reflux, Constipation, Failure to t... |
ORPHA:300536 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio... |
OMIM:261680 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular ci... |
ORPHA:98907 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Type I diabetes mellitus |
OMIM:304790 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Postnatal growth retardation, Pancreatic lymphangiectasis, Splenomegaly, Cryptorchi... |
ORPHA:1655 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Short stature, Conjugat... |
OMIM:211600 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Hypoglycemia, Elevated circulating aspartate aminotransferase c... |
OMIM:608779 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Hypertriglyceridemia |
OMIM:177000 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... |
ORPHA:860 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Maternal diabetes, Cong... |
ORPHA:79083 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries |
ORPHA:79085 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Renal cyst, Elevated gamma-glutamyltransferase level, Intrahepatic... |
OMIM:614866 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysplasia |
OMIM:613730 |
Galactosemia I |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:230400 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Hyper... |
OMIM:615381 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Abnormality of the kidney, Insulin resistance, Biliary tract abnormality, Abno... |
OMIM:209900 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Cirrhosis, Hypercholesterolemia, Failure ... |
ORPHA:528 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Abnormality of chromosome stability, Diabetes mellitus, Telangiect... |
ORPHA:100 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:17 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Cholestasis, Cardiomyopath... |
ORPHA:746 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hepatomegaly, Chilblains, Intrauterine growth retardation |
OMIM:615010 |
Macdermot-Winter Syndrome |
|
Intrauterine growth retardation, Hydronephrosis |
OMIM:247990 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... |
OMIM:235555 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Hepatomegaly |
OMIM:607685 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Angina pectoris... |
ORPHA:412 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Calcinosis, Raynaud phe... |
OMIM:613471 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Atypical Werner Syndrome |
|
Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Neoplasm of the breast, Prematur... |
ORPHA:79474 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... |
OMIM:200995 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral reflux, Renal h... |
OMIM:118450 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Dilated cardiomyopathy, Hepatic fibrosis, Short stature |
OMIM:613989 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect |
ORPHA:40366 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Insulin resistance, Long penis, Hyp... |
ORPHA:508 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Hypertension, Increased circulating cortisol level, Macronodula... |
OMIM:615954 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Decreased motor nerve conduction velocity, Cachexia, Diarrhea, Dys... |
ORPHA:298 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, Short stature, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, N... |
OMIM:613390 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Hepatic steatosis, Polycystic ovaries |
OMIM:608709 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasi... |
OMIM:601847 |
Sickle Cell Anemia |
|
Pigment gallstones, Osteomyelitis, Abnormality of the spleen, Elevated circulating creatinine con... |
ORPHA:232 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Short stature, Splenomegaly, Vasculitis, Uveitis, Arthriti... |
ORPHA:575 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Increased circulating very long-chain fatty acid concentration, Polycystic kidney d... |
OMIM:614859 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Patent duct... |
OMIM:620005 |
Immunodeficiency 54 |
|
Chromosome breakage, Hepatomegaly, Lymphoproliferative disorder, Short stature, Postnatal growth ... |
OMIM:609981 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu... |
ORPHA:556037 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Diabetes mellitus, Cholangitis, Pneu... |
ORPHA:183675 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Intrauterine growth re... |
OMIM:618958 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensiti... |
ORPHA:171876 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Ureteral duplication, Short stature, Cholangitis, Rhizomelia, Pancreatic cysts, Con... |
OMIM:266920 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:237800 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa... |
OMIM:308240 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphoma, Growth delay, Hypocalcemia, Ascites |
ORPHA:100025 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Abnormal circulating porphyrin concentration, Decreased liver function, Cirrhosis, Cholel... |
ORPHA:79278 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Abnormal circulating fatty... |
ORPHA:263455 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent urinary tract infections, Recurrent skin infections, Short stature, Postn... |
OMIM:620210 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalani... |
OMIM:266150 |
Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Re... |
ORPHA:1834 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Ascites, Arteriove... |
ORPHA:974 |
Melioidosis |
|
Shock, Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, H... |
ORPHA:31202 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Abnormality of the urinary system, Short stature |
ORPHA:2204 |
Recombinant Chromosome 8 Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Patent ductus arteriosus, Growth delay, Pulmonic st... |
OMIM:179613 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma |
ORPHA:86893 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Hemangiomatosis, Renal hypoplasia/aplasia, Visc... |
ORPHA:2123 |
Cirrhosis, Familial |
|
Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Increased level of L-fu... |
OMIM:215600 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Splenomegaly, Cryptorchidism... |
OMIM:235255 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Hype... |
ORPHA:97278 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chroni... |
OMIM:240300 |
Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the pancreas, Abno... |
ORPHA:1926 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal urinary color, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno... |
ORPHA:234 |
Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly |
OMIM:613978 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract morphology, Stomatitis, Chole... |
ORPHA:438274 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Glucose intolerance, Inflam... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Glucose intolerance, Inflam... |
ORPHA:99228 |
Monosomy X |
|
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Glucose intolerance, Inflam... |
ORPHA:99226 |
Turner Syndrome |
|
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Glucose intolerance, Inflam... |
ORPHA:881 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Recurrent urinary tract infections, Lymphoproliferative disorder, Elevated circulat... |
OMIM:615559 |
Shigellosis |
|
Hyponatremia, Hypoglycemia, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Ureth... |
ORPHA:810 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Obesity |
OMIM:620195 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated creatine kinase afte... |
ORPHA:159 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Astrocytoma, Proteinuria, Hypertriglyceridemia, Insulin-resista... |
ORPHA:79086 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:616860 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Proteinuria, Decr... |
OMIM:232220 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia, Prolonged neonatal jaundice |
ORPHA:226313 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Glomerulopathy, Hypertriglyceridemia, Congest... |
ORPHA:2348 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu... |
ORPHA:556030 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Hyperglycinemia, Increased mitochondrial number, Decreased activity of mitochondrial complex IV, ... |
OMIM:619063 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Abnormality of the pa... |
ORPHA:2552 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Splenomegaly, In... |
OMIM:615846 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi... |
ORPHA:276152 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Elevated creatine kinase after exercise, Decreased mitochondrial number |
ORPHA:352470 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Somatostatinoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97283 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration |
OMIM:300752 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin... |
OMIM:613327 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Seckel Syndrome 10 |
|
Retinal detachment, Acute pancreatitis, Hypertriglyceridemia, Severe short stature, Elevated hemo... |
OMIM:617253 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Intrauterine growth retardat... |
ORPHA:858 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, Hepatomegaly, B-cell lymphoma, Vas... |
ORPHA:3261 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly |
OMIM:606445 |
Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Prominent U wave, Hyperglycem... |
ORPHA:466677 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermati... |
ORPHA:83617 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Familial Thyroid Dyshormonogenesis |
|
Bradycardia, Prolonged neonatal jaundice |
ORPHA:95716 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Gastroesophageal reflux, Decreased liver function, Dysphagia, Failure to thrive, Hepatic steatosis |
ORPHA:70472 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, Bacterial e... |
ORPHA:48435 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula... |
OMIM:605479 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Hypospadias, Abnormality of the kidney, Congestive heart failure, Cryptorchidism, H... |
ORPHA:1194 |
Leber Congenital Amaurosis 1 |
|
Growth delay, Hepatomegaly, Hyperthreoninemia, Hyperthreoninuria |
OMIM:204000 |
Myasthenia Gravis |
|
Myositis, Raynaud phenomenon, Hepatitis, Rheumatoid arthritis, Glycosuria, Hashimoto thyroiditis |
ORPHA:589 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Refractory anemia with ringed sideroblasts, L... |
OMIM:133180 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Short stature, Cryptorchidism, Jaundice,... |
ORPHA:912 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
Short Syndrome |
|
Prominent superficial veins, Insulin resistance, Insulin-resistant diabetes mellitus, Birth lengt... |
OMIM:269880 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Ureteral duplication, Diabetes mellitus, Truncus arteriosus, Patent ductus ar... |
OMIM:600001 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:614887 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, In... |
OMIM:606176 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Oroticaciduria, Hepatitis, Hyperammonemia, Hyperorni... |
ORPHA:415 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating aspartate aminotransferase concentrati... |
OMIM:614034 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Lymphoma, Arthritis |
ORPHA:37748 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Hepatitis, Mucopolysacchariduria, Arteriovenous malformation, Ascites |
ORPHA:584 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Decreased activity of mitochondrial respiratory chain, Dilated cardiomyopathy, Decr... |
OMIM:614299 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Prolonged prothrombin time, Abno... |
ORPHA:3166 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Severe short stature, Short stature, Cryptorchidism, Patent ductus arteriosus,... |
OMIM:601186 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Short stature, Pneumonia, Decreased response to gr... |
OMIM:307200 |
Relapsing Polychondritis |
|
Episcleritis, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna... |
ORPHA:728 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Splenomegaly, Jaundice, Steatorrhea, Exocrine pancrea... |
OMIM:612714 |
Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Growth delay, Delayed puberty, ... |
OMIM:615704 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Biliary cirrhosi... |
ORPHA:227990 |
Vipoma |
|
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neoplasm of the ... |
ORPHA:97282 |
Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, High-output conges... |
ORPHA:231222 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Neonatal... |
ORPHA:1667 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosple... |
OMIM:618278 |
Cat-Eye Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Intrauterine growth ret... |
ORPHA:195 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycysti... |
ORPHA:435660 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase... |
OMIM:617713 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Iridocyclitis, Hepatitis, Chronic mucocutaneou... |
ORPHA:227982 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Hamartoma of tongue, Splenomegaly, Patent ductus arteriosus, Renal hypoplasia, Peri... |
OMIM:269860 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato... |
OMIM:276700 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Proteinuria, Congestive heart failure, Myocarditis, Vasculitis, Jaundice... |
ORPHA:2331 |
Babesiosis |
|
Hepatomegaly, Renal insufficiency, Myocardial infarction, Splenomegaly, Congestive heart failure,... |
ORPHA:108 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Hyperlipoproteinemia, Type I |
|
Nausea, Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Vomiting, I... |
OMIM:238600 |
Grfoma |
|
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... |
ORPHA:97261 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... |
OMIM:613095 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Short stature, Elevated circulating creatine kinase concentration,... |
ORPHA:52430 |
Chronic Mucocutaneous Candidiasis |
|
Recurrent urinary tract infections, Skin rash, Cheilitis, Hepatitis, Hematuria |
ORPHA:1334 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Elevated circulating C-reactive protein concentration, Elevated gamma-glutamy... |
OMIM:619573 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Growth delay, Ascites, Steatorrhea, Hepatic f... |
ORPHA:75233 |
Image Syndrome |
|
Cryptorchidism, Hypospadias, Hydronephrosis, Intrauterine growth retardation |
ORPHA:85173 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypoglycemia, ... |
OMIM:616026 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Rhizomelia, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chro... |
OMIM:218330 |
Glycogen Storage Disease Vii |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... |
OMIM:232800 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Hyperglycemia |
OMIM:615986 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Tricuspid regurgitation, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy, Pu... |
OMIM:619433 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Impaired myocardial contractility, Adrenocortical adenoma, Postprandial hyp... |
ORPHA:681 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
ORPHA:90003 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... |
ORPHA:572 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia |
ORPHA:28 |
Meckel Syndrome 14 |
|
Mitral regurgitation, Tricuspid regurgitation, Hepatic fibrosis, Polycystic kidney dysplasia |
OMIM:619879 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Skin rash, Short stature, Splenomegaly, Patent ductus arteriosus, Jaundice, Type I ... |
ORPHA:290 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Impaired glucose tolerance, Short stature, Insulin resistance, Fasting hyperins... |
ORPHA:769 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Unco... |
OMIM:266200 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Hypoglycemia, Hepatoblastoma, Spider hemangioma, Chronic pancr... |
OMIM:232240 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Harderoporphyria |
|
Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Increased circulating ferriti... |
OMIM:618892 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Hydronephrosis, Pulmonic stenosis, Exostoses |
ORPHA:251076 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intrahepatic cholestasis with episodic jaundice, Elevated carcinoembryonic antigen level, Elevate... |
ORPHA:100085 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Type I diabetes mellitus, Intrauter... |
ORPHA:436252 |
Spastic Paraplegia Type 7 |
|
Urinary urgency, Abnormal mitochondrial morphology |
ORPHA:99013 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Decreased fumarate hydratase activity, In... |
OMIM:606812 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Growth delay, Pancr... |
ORPHA:289916 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... |
OMIM:619644 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Lymphoma, Bronchiectasis, Neoplasm, Conjunctivit... |
OMIM:240500 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... |
ORPHA:99885 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Micropenis, Hydrocele testis, Hypocholesterolemia, Neonatal death, Hypertrophic car... |
OMIM:618810 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hypoca... |
OMIM:243800 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat... |
ORPHA:367 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Nephritis, Infectious encephalitis, He... |
ORPHA:73263 |
Williams-Beuren Region Duplication Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Unilateral renal agenesis, ... |
OMIM:609757 |
Joubert Syndrome 1 |
|
Nephropathy, Hepatic fibrosis, Renal cyst |
OMIM:213300 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat... |
ORPHA:1333 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypopr... |
OMIM:267700 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo... |
ORPHA:774 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice |
OMIM:613977 |
Orofaciodigital Syndrome I |
|
Proteinuria, Short stature, Hamartoma of tongue, Pancreatic cysts, Vascular dilatation, Hypertens... |
OMIM:311200 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cryptorchidism, Patent ductus arteriosus, Hydronephrosis |
OMIM:619797 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Nephropathy, Bence Jones Proteinuria |
ORPHA:100024 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Short stature, Splenomegaly, Decreased beta-glucocerebrosidase level, Vascular calc... |
OMIM:231000 |
Glucagonoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97280 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria |
OMIM:618857 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepa... |
ORPHA:79259 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperalaninemia, Dilation of Virchow-Robin spaces, E... |
OMIM:615273 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Hyponatremia, Short stature, Decreased response to growth hormone ... |
ORPHA:293987 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Very long chain... |
ORPHA:98908 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated circulating alkaline phosphat... |
OMIM:613489 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular ac... |
OMIM:614922 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Short stature, Abnormality of the pancreas, ... |
ORPHA:2315 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist... |
ORPHA:90308 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Melena |
ORPHA:319218 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Myelodysplasia, Raynaud phenom... |
ORPHA:3260 |
Lig4 Syndrome |
|
Hepatomegaly, Abnormality of chromosome stability, Hypoplasia of penis, Telangiectasia of the ski... |
ORPHA:99812 |
19P13.12 Microdeletion Syndrome |
|
Cryptorchidism, Hyperlipidemia, Obesity, Intrauterine growth retardation, Hepatic steatosis |
ORPHA:254346 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Neoplasm of the nervous ... |
ORPHA:100086 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Congenital Myopathy 19 |
|
Cryptorchidism, Renal atrophy, Hydronephrosis |
OMIM:618578 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati... |
OMIM:614872 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Decreas... |
OMIM:619167 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Cardiomyopathy, Stroke, Pancreat... |
ORPHA:79312 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Hematemesis, Jaundice, Retinal hemorrhage, Hepatitis, U... |
ORPHA:319251 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis |
ORPHA:79087 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Eczema, Increased level of hippuric acid in urine, Short stature, Cer... |
OMIM:606054 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis |
OMIM:224230 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Bone-... |
OMIM:256550 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Short stature, Patent ductus arteriosus, Elevated circulating long... |
OMIM:614886 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Pitui... |
ORPHA:189427 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Decreased activity of mitochondrial ATP synthase complex, Renal hypoplasia, Lactica... |
OMIM:604273 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Cryptorchidism, Patent ductus arterio... |
OMIM:214100 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Abnormality of the spleen, Splenomegaly, Calcification of the a... |
ORPHA:2072 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Jaundice, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II |
OMIM:224100 |
Klatskin Tumor |
|
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis |
ORPHA:99978 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Reduced xanthine dehydrogenase level, Xanthine ... |
ORPHA:3467 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Elevated circulating lon... |
OMIM:214110 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Cardiomyopathy, Rhinitis |
ORPHA:93476 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Foam cells with lamellar inclusion bodies, Short stature, Elevated circulating aspa... |
OMIM:257200 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Bradycardia, Hypotension, Decreased liver func... |
ORPHA:90051 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... |
OMIM:610582 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Psoriasiform dermatitis, Enterocolitis, T-cell lymphoma, Hematochezia, Hypoplasia of the thymus, ... |
OMIM:243150 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Prominent superficial veins, Recurrent urinary tract infections, Perianal abscess, ... |
OMIM:612541 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay |
OMIM:615631 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Stage 5 chronic kidney... |
OMIM:251000 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Cellular urinary cast... |
ORPHA:509 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Inflammatory abnormality of the skin, Elevated ... |
ORPHA:26793 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short stature, Rhizomelia, E... |
OMIM:614376 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Eunuchoid habitus, Enlarged polycystic ovaries, Cryptorchidism, Hyp... |
ORPHA:91 |
Tarp Syndrome |
|
Subdural hemorrhage, Horseshoe kidney, Hepatic failure, Neonatal death, Intrauterine growth retar... |
OMIM:311900 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,... |
ORPHA:293173 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Pituitary prolactin ... |
ORPHA:913 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Pancreatic fibrosis, Hamartoma of tongue, Hepatic fibrosis, Polycystic k... |
OMIM:263520 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Short stature, Hydronephrosis |
ORPHA:85285 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Hyperglycemia, Pancreati... |
OMIM:609069 |
Cat Eye Syndrome |
|
Renal agenesis, Short stature, Patent ductus arteriosus, Biliary atresia, Horseshoe kidney, Total... |
OMIM:115470 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Hepatomegaly, Failure to thrive, Optic atrophy |
ORPHA:2971 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Growth delay, Pulm... |
ORPHA:2414 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Sinusitis, Aplasia of the thymus, Pneumonia, Hypocalcemic tet... |
ORPHA:83471 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Short stature, Elevated ... |
OMIM:611881 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Pfapa Syndrome |
|
Splenomegaly, Arthritis, Infectious encephalitis, Hepatomegaly |
ORPHA:42642 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Asplenia, Cryptorchidism, Patent ductus arteriosus, Horseshoe kidney, Hydron... |
ORPHA:99776 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Myositis, Biliary atresia, Elevated circulating creatine kinase concentration |
ORPHA:565899 |
Temporal Arteritis |
|
Retinal arteritis |
OMIM:187360 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperlipidemia |
ORPHA:79477 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Large vessel vasculitis, Hashimoto thyroid... |
ORPHA:49041 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypoglycemia, Hypospadias, Increased hepatocellular lipid droplets, Microvesicular hep... |
OMIM:220111 |
Aredyld Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Abnormality of the ureter, Refractory anemia with ring... |
ORPHA:1133 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... |
OMIM:201450 |
Alpha-Thalassemia |
|
Myelodysplasia, Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:846 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,... |
ORPHA:100078 |
Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... |
OMIM:615947 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Acute hepatic failure, ... |
ORPHA:131 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He... |
ORPHA:699 |
Trisomy 13 |
|
Cryptorchidism, Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cysts, Capill... |
ORPHA:3378 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperam... |
OMIM:246450 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Adrenomyodystrophy |
|
Failure to thrive, Hepatic steatosis, Short stature |
ORPHA:977 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Decreased activity of mitochondrial complex I, Hydroureter, Hydronephrosis |
OMIM:618240 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydronephrosis |
ORPHA:251046 |
Takayasu Arteritis |
|
Arteritis |
OMIM:207600 |
Fetal Gaucher Disease |
|
Hepatomegaly, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Stillbirth, Neona... |
ORPHA:85212 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia |
OMIM:614653 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Angina pectoris, Abnormal ... |
ORPHA:565612 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Skin rash, Hypop... |
OMIM:603553 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Abnormal coronary artery course, Seborrheic der... |
ORPHA:488618 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Coarctation of aorta, Recurrent otit... |
OMIM:618494 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Skin rash, Pneumonia, Recurrent pneumonia, Hypoplasia of the thymus, Chronic oral c... |
OMIM:300400 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, A... |
OMIM:137920 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Recurrent pneumonia, Lymphoma, EBV ence... |
OMIM:615122 |
Infantile Refsum Disease |
|
Hepatomegaly, Short stature, Elevated circulating phytanic acid concentration, Cardiomyopathy, Ar... |
ORPHA:772 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Increased urinary glycerol, Hypoglycemi... |
ORPHA:348 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc, Vasculitis, Skin rash |
OMIM:601979 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Internal hemorrhage, Hepa... |
ORPHA:99827 |
Smith-Lemli-Opitz Syndrome |
|
Facial capillary hemangioma, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hepati... |
OMIM:270400 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Short stature, Cryptorchidism, Patent ductus arteriosus, Hypocal... |
OMIM:300712 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recur... |
OMIM:607594 |
Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Tricuspid regurgitation, Rhizomelia, Ureteral hypoplasia... |
ORPHA:79328 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Splenome... |
ORPHA:36412 |
Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Bradycardia |
OMIM:620351 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Gaucher Disease |
|
Hepatomegaly, Osteomyelitis, Proteinuria, Short stature, Elevated circulating C-reactive protein ... |
ORPHA:355 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,... |
OMIM:616433 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Skin rash, Maculopapular exanthema, Hematological neoplasm, Splenomegaly, Elevated ... |
ORPHA:98848 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Short stature, Cryptorchidism, Patent ductus arteriosus, Heart m... |
ORPHA:163979 |
Fish-Eye Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Angina pectoris, Splenomegaly, Atheroscler... |
ORPHA:79292 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Neurofibroma |
|
Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Paraspinal neurofibroma, Neur... |
ORPHA:252183 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Diabetes mellitus, Hydroureter, Stroke-like episode, Growth delay, Cardiomyop... |
OMIM:222300 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ... |
ORPHA:93101 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
8P Inverted Duplication/Deletion Syndrome |
|
Cryptorchidism, Abnormality of the urinary system, Aplasia/Hypoplasia of the gallbladder, Micrope... |
ORPHA:96092 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Sarcoma |
ORPHA:66661 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Prolonged bleeding time, Splenomegaly, Acute leukemia, Intracranial hemorrhage, Mye... |
ORPHA:3226 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Hepatomegaly |
OMIM:603902 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Elevated circulating creatine kinase concentration, Cachexia, Decreased nerve cond... |
ORPHA:1933 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr... |
ORPHA:99901 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Reduced renal corticomedullary different... |
OMIM:618541 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis |
ORPHA:83597 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Diabetes mellitus, ST segment elevation, Ventricular tachycardia,... |
ORPHA:263297 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology, Dysuria |
ORPHA:293807 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter... |
ORPHA:90324 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Hepatic steatosis, Elevated hemoglobin ... |
OMIM:210900 |
D-Glyceric Aciduria |
|
Bradycardia |
OMIM:220120 |
Carpenter Syndrome 1 |
|
Hydroureter, Short stature, Cryptorchidism, Patent ductus arteriosus, Transposition of the great ... |
OMIM:201000 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:300842 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Recurrent urinary tract infections, Lymphocytic interstitial pneumonia, Splenomegal... |
OMIM:618495 |
Lujo Hemorrhagic Fever |
|
Shock, Elevated hepatic transaminase, Myocarditis, Fulminant hepatitis, Subconjunctival hemorrhag... |
ORPHA:319213 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Proximal tubulopathy, De... |
ORPHA:2609 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Lymph... |
ORPHA:436159 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Elevated circulating creatine kinase concentration, Dilated cardi... |
ORPHA:352447 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Diabetes mellitus, Unilateral cryptorchidism, Short stature, Maturi... |
ORPHA:96149 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Chole... |
ORPHA:77293 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Vomiting, Decreased liver function, Diffuse ... |
ORPHA:436271 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia, Cardiomyopathy, Pancreatitis |
ORPHA:27 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein ... |
ORPHA:85414 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Double outlet right ventricle... |
OMIM:220210 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Telangiectasia of the skin, Jaundice, Arthritis, Keratoconjunctivitis si... |
ORPHA:779 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Microvesicular hepatic steatosis, Hyperammonemia, Cerebral atrophy, Failure t... |
OMIM:616672 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Splenomegaly, Thyroiditis, Hodgkin lymphoma |
OMIM:619375 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Decreased glucosephosphate isomerase level, Cholecyst... |
OMIM:613470 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Thoracic aortic aneurysm, Elevated circulating C-reactive protei... |
ORPHA:449400 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Bronchiectasis, Cholestasis, Recurrent otitis media, Pulmo... |
OMIM:620233 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Abnormality of the upper urinary tract, Desmoid tumors, Neoplasm of ... |
ORPHA:873 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia |
ORPHA:565624 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Postnata... |
ORPHA:75249 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Bowel incontinence, Cachexia, Optic atrophy, Abnorma... |
ORPHA:702 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Patent ductus arteriosus, Annular pancreas, Pulmonary arterial hype... |
ORPHA:210122 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Short stature, Optic atrophy, Abno... |
OMIM:231550 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Vomiting |
OMIM:210200 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, B-cell lymphoma, Splen... |
OMIM:619381 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Otitis media, Chronic otitis me... |
ORPHA:900 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Short stature, Hydronephrosis, Pulmonic stenosis, Facial telangiectasia |
OMIM:620141 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Ovar... |
ORPHA:83469 |
Wolfram Syndrome, Mitochondrial Form |
|
Diabetes mellitus, Hydronephrosis, Hydroureter |
OMIM:598500 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p... |
OMIM:300755 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... |
OMIM:236730 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Intrauterine growth retardation, Increased mitocho... |
OMIM:615578 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Hyperimidodi... |
OMIM:170100 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Hypertriglycerid... |
ORPHA:280365 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Laryngeal papilloma, Elevated circulating C-reactive protein concentration, Splenom... |
OMIM:617388 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatation of the r... |
ORPHA:314588 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Short stature, Rhizomelia, Hemolytic-uremic syndrome, Cryptorch... |
OMIM:611209 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Short stature, Hypercalcemia, Cryptorchidism, Splenomegaly, Hyperca... |
OMIM:618440 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Short stature, Patent ductus arteriosus, Urethral stenosis, ... |
ORPHA:261290 |
Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
Hereditary Spherocytosis |
|
Hepatomegaly, Maculopapular exanthema, Splenomegaly, Jaundice, Gout, Growth delay, Hyperbilirubin... |
ORPHA:822 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypote... |
ORPHA:94093 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Oligoart... |
OMIM:142680 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Hepatomegaly, Ureteral duplication, Hypoglycemia, Hyp... |
ORPHA:373 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Cholelithiasis, Testicu... |
OMIM:160900 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Proteinuria, Hypersplenism, Splenomegaly, Osteoarthritis, Hematuria, Growth delay, ... |
ORPHA:77259 |
Distal Duplication 6P |
|
Short stature, Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardati... |
ORPHA:1745 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Reactive hypoglyce... |
ORPHA:469 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peritonitis, Vasculitis, Growth delay, Arthritis, Recu... |
ORPHA:343 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Elevated circulating growth hormone concentrati... |
ORPHA:97287 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis, Pulmonic stenosis |
OMIM:264140 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Osteomyelitis, Short stature, Elevated circulating C-reactive protein concentration... |
OMIM:619423 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis |
OMIM:619431 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Abnorm... |
ORPHA:85443 |
Radiation Proctitis |
|
Abnormal vascular morphology, Abnormal gastrointestinal vascular morphology, Arteritis, Hematochezia |
ORPHA:70475 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Cardiomegaly, Micropenis, Intrauterine growth retardation, Hypertrophic cardiomyopat... |
OMIM:616897 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Diarrhea, Cerebral atrophy, Xanthelasma, Abnormal circulat... |
OMIM:213700 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Chilblains, Splenomegaly, Vasculitis,... |
OMIM:225750 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Mild postnatal growth retardation, Thyroid lymphangiectasia, Ectopi... |
OMIM:235510 |
Diffuse Cutaneous Mastocytosis |
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Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, M... |
ORPHA:79456 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis |
OMIM:235700 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Bradycardia, Prolonged neonatal jaundice |
ORPHA:90673 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypertriglyceridemia, Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhag... |
ORPHA:363618 |
Kleefstra Syndrome |
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Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Supernumerary nipple, Crypt... |
ORPHA:261494 |
Triploidy |
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Hepatomegaly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the pancreas, Abno... |
ORPHA:3376 |
Meckel Syndrome |
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Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Asplen... |
ORPHA:564 |
Occipital Horn Syndrome |
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Recurrent urinary tract infections, Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Bladd... |
ORPHA:198 |
Sickle Cell Disease |
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Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... |
OMIM:603903 |
3C Syndrome |
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Hypoplasia of penis, Hypospadias, Short stature, Postnatal growth retardation, Pulmonic stenosis,... |
ORPHA:7 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia... |
OMIM:617591 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
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Splenomegaly, Hepatomegaly, Interstitial pneumonitis, Vasculitis in the skin |
OMIM:620296 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
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Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
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Hypoplasia of penis, Cryptorchidism, Growth delay, Intrauterine growth retardation, Hydronephrosis |
ORPHA:2083 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
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Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... |
ORPHA:369840 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Left superior vena cava draining... |
ORPHA:464738 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Ketonur... |
ORPHA:20 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
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Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoac... |
OMIM:617913 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Elevated hepatic transaminase, Neoplasm of the pancreas, Short stature, Small for gestational age... |
ORPHA:2959 |
Immunodeficiency 32B |
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Hepatomegaly, Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis, Hypoalbuminemia |
OMIM:226990 |
22Q11.2 Duplication Syndrome |
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Urethral stenosis, Growth delay, Transposition of the great arteries, Interrupted aortic arch, Di... |
ORPHA:1727 |
Proximal Spinal Muscular Atrophy |
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Atrial septal defect, Bradycardia |
ORPHA:70 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Elevated circulating C-reactive protein concentration, Hashimoto thyroiditis, Hepatomegaly, Renal... |
OMIM:615688 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
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Neurogenic bladder, Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, De... |
OMIM:500013 |
Combined Oxidative Phosphorylation Deficiency 4 |
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Hepatomegaly, Hyperammonemia, Intrauterine growth retardation |
OMIM:610678 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
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Hepatic steatosis |
ORPHA:210548 |
X-Linked Dominant Chondrodysplasia Punctata |
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Short stature, Severe postnatal growth retardation, Erythroderma, Hydronephrosis, Neonatal hypogl... |
ORPHA:35173 |
Drug-Induced Autoimmune Hemolytic Anemia |
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Splenomegaly, Congestive heart failure, Tachycardia |
ORPHA:90037 |
Cimdag Syndrome |
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Hepatomegaly, Retinal dystrophy, Microvesicular hepatic steatosis, Cerebral atrophy, Pontocerebel... |
OMIM:619273 |
Prune Belly Syndrome |
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Hydroureter, Cryptorchidism, Patent ductus arteriosus, Congenital posterior urethral valve, Hydro... |
OMIM:100100 |
Chromosome 17Q12 Deletion Syndrome |
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Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... |
OMIM:614527 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
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Recurrent urinary tract infections, Orthostatic hypotension, Hypospadias, Neurogenic bladder, Sta... |
OMIM:191800 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Elevated circulat... |
OMIM:280000 |
Chromosome 2P16.1-P15 Deletion Syndrome |
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Decreased testicular size, Short stature, Postnatal growth retardation, Cryptorchidism, Intrauter... |
OMIM:612513 |
Dilated Cardiomyopathy With Ataxia |
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Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Optic ... |
ORPHA:66634 |
Autoimmune Lymphoproliferative Syndrome |
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Splenomegaly, Hepatomegaly, Vasculitis |
OMIM:601859 |
Musculocontractural Ehlers-Danlos Syndrome |
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Recurrent skin infections, Cryptorchidism, Abnormal mesentery morphology, Functional abnormality ... |
ORPHA:2953 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
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Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Dengue Fever |
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Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Hypotension... |
ORPHA:99828 |
Microscopic Polyangiitis |
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Episcleritis, Gastrointestinal hemorrhage, Increased inflammatory response, Sinusitis, Pericardit... |
ORPHA:727 |
Fanconi Anemia, Complementation Group Q |
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Growth delay, Chromosome breakage, Biliary atresia, Short stature |
OMIM:615272 |
Gallbladder Disease 4 |
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Cholelithiasis |
OMIM:611465 |
Majeed Syndrome |
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Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Glomerulopathy, Proteinu... |
ORPHA:77297 |
Citrullinemia, Classic |
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Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Stroke, Cirrhosis... |
OMIM:215700 |
Suleiman-El-Hattab Syndrome |
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Cryptorchidism, Hydronephrosis |
OMIM:618950 |
Shwachman-Diamond Syndrome 1 |
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Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Myocardial necrosis, Short s... |
OMIM:260400 |
Hb Bart'S Hydrops Fetalis |
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Splenomegaly, Congestive heart failure, Pericarditis, Hepatomegaly |
ORPHA:163596 |
Trisomy 8P |
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Cryptorchidism, Fetal pyelectasis, Heart murmur, Micropenis, Nephrocalcinosis, Neuroblastoma, Apl... |
ORPHA:264450 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
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Hepatomegaly, Increased circulating very long-chain fatty acid concentration, Renal cyst |
OMIM:614862 |
Polycythemia Vera |
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Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Hurler-Scheie Syndrome |
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Aortic regurgitation, Hepatomegaly, Short stature, Heparan sulfate excretion in urine, Splenomega... |
OMIM:607015 |
Leukocyte Adhesion Deficiency, Type Iii |
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Hepatomegaly, Recurrent skin infections, Epistaxis, Splenomegaly, Hepatosplenomegaly |
OMIM:612840 |
Joubert Syndrome 35 |
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Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Fructose Intolerance, Hereditary |
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Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Transient aminoaciduria... |
OMIM:229600 |
Fructose-1,6-Bisphosphatase Deficiency |
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Hepatomegaly, Tachycardia, Increased urinary glycerol, Hypoglycemia |
OMIM:229700 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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Methylmalonic acidemia, Hepatomegaly, Decreased methionine synthase activity, Skin rash, Short st... |
OMIM:277380 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
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Hepatomegaly, Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia |
OMIM:619053 |
Netherton Syndrome |
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Skin rash, Eczema, Short stature, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis |
ORPHA:634 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Congestive hea... |
ORPHA:444077 |
Kury-Isidor Syndrome |
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Recurrent otitis media, Growth delay, Hydronephrosis |
OMIM:619762 |
Glutaric Acidemia I |
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Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Reduced peroxisomal glutaryl-CoA oxidas... |
OMIM:231670 |
Encephalitis Lethargica |
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Bradycardia |
ORPHA:83600 |
Niemann-Pick Disease, Type C1 |
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Hepatomegaly, Fatal liver failure in infancy, CNS foam cells, Fetal ascites, Bone-marrow foam cel... |
OMIM:257220 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
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Tachycardia, Palpitations |
OMIM:188580 |
American Trypanosomiasis |
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Hepatomegaly, Skin rash, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arr... |
ORPHA:3386 |
Lymphoproliferative Syndrome 1 |
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Hepatomegaly, Lymphoproliferative disorder, B-cell lymphoma, Elevated circulating C-reactive prot... |
OMIM:613011 |
Boutonneuse Fever |
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Elevated hepatic transaminase, Renal insufficiency, Skin rash, Maculopapular exanthema, Vasculitis |
ORPHA:83313 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
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Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Decreased activity o... |
OMIM:251900 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Urethral atresia, Transposition of the great arteries, Neonatal death, Persistent left superior v... |
OMIM:314390 |
Mixed Connective Tissue Disease |
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Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Prolonge... |
ORPHA:809 |
Yellow Fever |
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Shock, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Suprave... |
ORPHA:99829 |
Tetrasomy 15Q26 |
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Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Intrauterine growth retardat... |
OMIM:614846 |
Tetrasomy 9P |
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Renal dysplasia, Absent gallbladder, Myositis, Juxtaductal coarctation of the aorta, Pericarditis... |
ORPHA:3310 |
Osteopetrosis With Renal Tubular Acidosis |
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Hepatomegaly, Abnormal circulating enzyme concentration or activity, Short stature, Elevated circ... |
ORPHA:2785 |
Digeorge Syndrome |
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Parathyroid hypoplasia, Hypoplasia of the thymus, Hypocalcemia, Hepatic steatosis, Acne, Parathyr... |
OMIM:188400 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
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Lacticaciduria, Stage 5 chronic kidney disease, Palpitations, Decreased activity of mitochondrial... |
OMIM:618250 |
Neuroendocrine Tumor Of The Colon |
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Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ... |
ORPHA:100080 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
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Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Hepatomegaly, Pulmonary embolism, Growth delay, Hypoalbuminemia, Budd-Chiari syndrome, Intestinal... |
OMIM:226300 |
Urofacial Syndrome 2 |
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Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... |
OMIM:608594 |
Bohring-Opitz Syndrome |
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Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
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Cryptorchidism, Micropenis, Short stature, Hydronephrosis |
ORPHA:364028 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
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Short stature, Cryptorchidism, Patent ductus arteriosus, Growth delay, Hydronephrosis |
ORPHA:457193 |
Hereditary Elliptocytosis |
|
Postnatal growth retardation, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaun... |
ORPHA:288 |
9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Hydronephrosis |
ORPHA:531151 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipid droplets, Renal tubu... |
OMIM:220110 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Vasculitis, Nephrotic syndrome, Malar ra... |
OMIM:603909 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Short stature, Elevated circulat... |
OMIM:615356 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, Intrauterine growth retardation, Hepatomegaly, Hypospadias, Cryptorch... |
OMIM:619488 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potass... |
ORPHA:79102 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Multicystic kidney dysplasia, Telangiectasia of the skin, Renal hypoplasia... |
ORPHA:2092 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Cryptorchidism, Patent ductus arteriosus, Congenital megaureter, Hy... |
ORPHA:261344 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal ... |
ORPHA:818 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Cryptorchidism, Hydronephrosis |
OMIM:618060 |
Monosomy 13Q34 |
|
Hypercalcemia, Obesity, Growth delay, Hematochezia, Hepatic steatosis |
ORPHA:96168 |
Noonan Syndrome 4 |
|
Ureteral duplication, Short stature, Cryptorchidism, Pulmonic stenosis, Hypertrophic cardiomyopat... |
OMIM:610733 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Neonatal death, Hypospadias, Pulmonary artery stenosis, Patent ductus arteriosus, Parti... |
OMIM:265380 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Psoriasiform dermati... |
ORPHA:2237 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating lactate dehydrogenase concentration, Neonatal hyperbilirubinemia, Portal ve... |
ORPHA:3202 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233690 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Cone/cone-rod dystrophy, Optic d... |
ORPHA:404454 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Zaki Syndrome |
|
Patent ductus arteriosus, Renal agenesis, Hydronephrosis, Short stature |
OMIM:619648 |
Erdheim-Chester Disease |
|
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Retroperitoneal fibrosis, Congestive hear... |
ORPHA:35687 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hypergly... |
OMIM:251110 |
Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin... |
ORPHA:308552 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Short stature, Decreased response to growth hormone stimulation test, Anterio... |
OMIM:615926 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Mild postnatal growth retardation, Reduced level of N-acetylglucosaminyltransferase... |
OMIM:224120 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Abnormality of the ureter, ... |
OMIM:175200 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia |
OMIM:182900 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Episcleritis, Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test,... |
OMIM:602782 |
Toluene Embryopathy |
|
Cryptorchidism, Short stature, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Bronchiectasis, ... |
OMIM:616100 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Cerebellar atrophy, Cerebral atrophy, Growth delay, Hepatic steatosis |
ORPHA:445038 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postnatal growth retardation, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholesteno... |
OMIM:302960 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia, Prolonged neonatal jaundice |
ORPHA:90674 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis |
OMIM:619652 |
Micro Syndrome |
|
Hypoplasia of penis, Short stature, Cryptorchidism, Abnormal localization of kidney, Delayed pube... |
ORPHA:2510 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Patent ductus art... |
OMIM:610505 |
Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Epistaxis, Congestive heart failu... |
ORPHA:33226 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Sple... |
OMIM:249100 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ... |
ORPHA:100082 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Short stature, Eczema, Cryptorchidism, Patent ductus arterios... |
OMIM:610443 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Elevated circulating creatine kinase... |
OMIM:619424 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Short stature, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc, Decrea... |
OMIM:201100 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Pneumonia, Gastrointestinal stroma tumor, Splenomegaly, Vasculitis... |
ORPHA:1572 |
Marburg Hemorrhagic Fever |
|
Shock, Elevated hepatic transaminase, Tachycardia, Pericarditis, Pancreatitis, Jaundice, Hypovole... |
ORPHA:99826 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Short stature, Cryptorchidism, Vesicoureteral reflux, Hydronep... |
ORPHA:96169 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflammation, ... |
ORPHA:79404 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Splenomegaly, Growth delay, Recurrent otitis media, Recurrent aphthous stomatitis, ... |
OMIM:301078 |
Xanthinuria, Type I |
|
Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Py... |
OMIM:278300 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis, Mitochondrial swelling, Mildly elevated creatine kinase |
ORPHA:397744 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Short stature, Elevated circulating creatine kinase concentration |
OMIM:619518 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Ha... |
ORPHA:2750 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal ... |
OMIM:185000 |
Distal Duplication 5Q |
|
Hypospadias, Eczema, Short stature, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Nephroblastoma, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Adrenocortica... |
OMIM:130650 |
Cardiofaciocutaneous Syndrome 1 |
|
Short stature, Splenomegaly, Atopic dermatitis, Cavernous hemangioma, Pulmonic stenosis, Hypertro... |
OMIM:115150 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cryptorchidism, Patent ductus arteriosus, Hydronephrosis, Intrauterine growth retardation |
OMIM:620327 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Ureteral stenosis, Hypospadias, Hydroureter, Postnatal growth retardatio... |
OMIM:269150 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Vasculitis, Diabetic ketoacidosis, Hypotension, Pancreatitis |
ORPHA:70578 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Multicystic kidney dysplasia, Supernumerary nipple, Hydronephrosis, Growth ... |
ORPHA:261349 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Me... |
OMIM:251100 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Mitochondrial hypertrophy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentra... |
OMIM:602541 |
Familial Adenomatous Polyposis |
|
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Pericarditis, Skin rash, Proteinuria, Myocardial infarction, Orchitis, Spl... |
ORPHA:342 |
Biotinidase Deficiency |
|
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Hyperamm... |
OMIM:253260 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Short stature, Steatorrhea, Prolonged prothrombin time, Hyperechogenic pancreas, Ex... |
OMIM:617941 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Short stature,... |
ORPHA:1606 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Chronic mucocutaneous... |
ORPHA:79124 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, CNS foam cells, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterificati... |
OMIM:607625 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Rhizomelia, Cerebral atrophy, Growth delay, Intrauterine growth retardation, ... |
OMIM:616271 |
Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Splenomegaly, Mucopolysacchariduria, Rhinitis |
ORPHA:93474 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Retinal dystrophy, Optic nerve hypoplasia, Optic atrophy, Abdominal obesity, Hypop... |
OMIM:619321 |
Mesomelia-Synostoses Syndrome |
|
Short stature, Hydronephrosis |
ORPHA:2496 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypercalciuria, Macronodular ci... |
OMIM:557000 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Osteomyelitis, Recurrent urinary tract infections |
OMIM:619218 |
Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Intrauterine growt... |
OMIM:601346 |
Gaucher Disease, Type I |
|
Hepatomegaly, Epistaxis, Hypersplenism, Splenomegaly, Hypertension, Mitral regurgitation, Multipl... |
OMIM:230800 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalemia,... |
OMIM:608885 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hypospadias, Short stature, Splenomegaly, Micropenis, Hepatosplenomegaly, Hyperbili... |
OMIM:613673 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Supernumerary nipple, Telangiectasia, Growth delay, Elevated circulating alkaline phosphatase con... |
ORPHA:247262 |
Stromme Syndrome |
|
Accessory spleen, Stillbirth, Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Tetraploidy |
|
Intrauterine growth retardation, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper... |
OMIM:239200 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Hypospadias, Eczema, Unilateral renal agenesis, Anterior pituitary hypoplas... |
ORPHA:464306 |
Giant Cell Arteritis |
|
Pericarditis, Renal insufficiency, Epistaxis, Sudden cardiac death, Vasculitis, Hematuria, Arthri... |
ORPHA:397 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... |
ORPHA:261318 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Patent ductus arteriosus, Hype... |
ORPHA:280633 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Short stature, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, ... |
OMIM:618454 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Hypoglycemia, Hypospadias, Splenomegaly, Concentric... |
OMIM:252010 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Short stature, Hydronephrosis |
OMIM:618265 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... |
OMIM:234700 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Vascular dilatation, Recurrent pneumonia, Growth delay, Hypoplasia of the thymu... |
OMIM:613177 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Chorioretinal hypopigmentation, Hypoalbuminemia, Macro... |
OMIM:617303 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Hypospadias, Eczema, Short stature, Postnatal growth retardation, Cryptorchid... |
ORPHA:235 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Short stature, Renal agenesis, Intrauterine growth retardation, Hem... |
ORPHA:1297 |
Encephalocraniocutaneous Lipomatosis |
|
Astrocytoma, Subcutaneous lipoma, Cryptorchidism, Lipoma, Pelvic kidney, Multiple central nervous... |
OMIM:613001 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:616689 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Patent ductus arteriosus, Hydronephrosis |
OMIM:300048 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Red urine, Conjunctivitis, Elevated circulat... |
OMIM:263700 |
Metachromatic Leukodystrophy |
|
Bowel incontinence, Decreased nerve conduction velocity, Abnormal gallbladder morphology, Hemobil... |
ORPHA:512 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenos... |
OMIM:616737 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Short stat... |
ORPHA:1775 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Panniculitis, Inflammatory abnormality of the eye |
ORPHA:33577 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein concentration, Pu... |
OMIM:612852 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:306400 |
Shwachman-Diamond Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Sinusitis, Diabetes mellitus... |
ORPHA:811 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ... |
ORPHA:100075 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus arter... |
ORPHA:464311 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul... |
ORPHA:158048 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Short stature, Cryptorchidism, Cholelithiasis, Micropenis, Decreased testicular size |
OMIM:300534 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Short stature, Eczema, Cryptorchidism, Annular pancreas, Coarctatio... |
ORPHA:2308 |
Baller-Gerold Syndrome |
|
Short stature, Lymphoma, Abnormality of the ureter, Abnormal localization of kidney, Growth delay... |
ORPHA:1225 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Short stature, Hydronephrosis |
OMIM:619179 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchidism, Renal h... |
ORPHA:93271 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape |
OMIM:610773 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Angina pectoris, Proteinuria, Elevated circulating g... |
ORPHA:79318 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Cystic Fibrosis |
|
Hepatomegaly, Recurrent pneumonia, Bronchiectasis, Biliary cirrhosis, Hepatosplenomegaly, Hyperca... |
OMIM:219700 |
Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Splenomegaly, Jaundice, Cerebral atrophy, Cholecystitis, Prolonged neonatal ja... |
OMIM:615512 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Patent ductus ... |
OMIM:614080 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Primary hypercortisolism, Ileal ... |
ORPHA:100079 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Neonatal hypoglycemia, Cardiomegaly, Leiomyosarcoma, Neoplasm, Vesicoureter... |
ORPHA:116 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Sinusitis, Liver abscess, Eczema, Splenomegaly, Otitis media, Inflammatory abnormal... |
ORPHA:379 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis |
ORPHA:568 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Elevated circulating alkaline phosphatase c... |
OMIM:618268 |
1Q21.1 Microdeletion Syndrome |
|
Short stature, Cryptorchidism, Patent ductus arteriosus, Interrupted aortic arch, Vesicoureteral ... |
ORPHA:250989 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal aortic arch morphology, Abnor... |
ORPHA:2059 |
15Q Overgrowth Syndrome |
|
Tricuspid regurgitation, Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Mi... |
ORPHA:314585 |
Opitz Gbbb Syndrome |
|
Enlarged ovaries, Hypospadias, Short stature, Cryptorchidism, Patent ductus arteriosus, Coarctati... |
ORPHA:2745 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Postnatal growth retardation, Cryptorchidism, Growth delay, Micropen... |
OMIM:301040 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Abnormality of the kidney, Renal insufficiency... |
ORPHA:228123 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Multiple glomerular cysts, Cardiac conduction abnormality, Abnormality of Krebs cyc... |
ORPHA:255210 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec... |
OMIM:154230 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Short stature, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, ... |
ORPHA:96121 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Transient ischemic attack, T... |
ORPHA:365 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Crypto... |
ORPHA:2473 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Recurrent pneumonia, Hypospadias, Hydronephrosis |
OMIM:616449 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Cryptorchidism, Ren... |
OMIM:229850 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short stature, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholesteno... |
OMIM:308050 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Recurrent urinary tract infections, Sinusitis, Glioma, Short stature... |
OMIM:251260 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Proteinuria, Hypertriglycer... |
OMIM:619127 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Myositis, Panniculitis |
OMIM:619183 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Sh... |
OMIM:618460 |
Immunodeficiency 31C |
|
Hepatomegaly, Diabetes mellitus, Osteomyelitis, Eczema, Short stature, Splenomegaly, Bronchiectas... |
OMIM:614162 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Streak ovary, Hypospadias, Nephroblastoma, Myeloid leukemia, Recurrent p... |
ORPHA:798 |
Familial Tumoral Calcinosis |
|
Hepatomegaly, Skin rash, Splenomegaly, Nephrocalcinosis, Neoplasm of the skin |
ORPHA:53715 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abnormality of the kidney... |
ORPHA:847 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Short stature, Tricuspid stenosis, Abnormality of the kidne... |
ORPHA:391641 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Fetal ascites, Ascending aorta hypoplasia,... |
OMIM:619503 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Hypospadias, Short stature, Bilateral cryptorchidism, Cryptorchidism, Patent du... |
OMIM:180849 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Renal dysplasia, Short stature, Patent ductus arteriosus, Unilateral breast hypoplasia, Hydroneph... |
OMIM:300968 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure |
OMIM:611126 |
Sotos Syndrome |
|
Ureteral duplication, Astrocytoma, Neoplasm, Vesicoureteral reflux, Chronic otitis media, Hypospa... |
ORPHA:821 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hypoplastic nipples,... |
ORPHA:2437 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Hydronephrosis |
OMIM:607598 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Wide penis, Vesicoureteral reflux, Dilatat... |
ORPHA:3455 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233710 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Renal duplication, Eczema, Testicular neoplasm, Hypospadias, ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Renal duplication, Eczema, Testicular neoplasm, Hypospadias, ... |
ORPHA:363958 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Skin r... |
ORPHA:183 |
Raine Syndrome |
|
Hydroureter, Short stature, Elevated circulating alkaline phosphatase concentration, Hypophosphat... |
OMIM:259775 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Growth delay, Hydronephrosis |
ORPHA:488613 |
Omenn Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Hypoplasia of the thymus, Erythroderma, Hypoproteinemia |
OMIM:603554 |
Carey-Fineman-Ziter Syndrome |
|
Short stature, Glandular hypospadias, Growth delay, Hydronephrosis, Hypertensive crisis |
ORPHA:1358 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Growth delay, Abnormal mitochondrial shape |
ORPHA:485421 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Growth delay, Cryptorchidism, Micropenis, Hydronephrosis |
OMIM:617798 |
Cardiofaciocutaneous Syndrome |
|
Short stature, Cryptorchidism, Cavernous hemangioma, Pulmonic stenosis, Hypertrophic cardiomyopat... |
ORPHA:1340 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Sinus bradycardia |
OMIM:618397 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Decreased circulating lipoprote... |
ORPHA:556955 |
Visceral Myopathy 1 |
|
Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis |
OMIM:155310 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... |
ORPHA:97214 |
Dystonia-Aphonia Syndrome |
|
Abnormal urinary odor, Abnormal mitochondrial shape |
ORPHA:412217 |
Genitopatellar Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Short stature, Hydronephrosis |
ORPHA:85201 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Neoplasm, Otitis media, Vesicoureteral reflux, Hypospadias, Short stature, Cryptorchidism, Patent... |
ORPHA:353281 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Short stature, Hydronephrosis |
ORPHA:2484 |
3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Bradycardia |
OMIM:617248 |
Pelvis-Shoulder Dysplasia |
|
Neonatal short-trunk short stature, Short stature, Hydronephrosis, Mesomelic/rhizomelic limb shor... |
ORPHA:2839 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cryptorchidism, Ascending tubular aorta aneurysm, Vesicoureteral reflux, Intrauterine growth reta... |
ORPHA:453499 |
Eec Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Renal hypoplas... |
ORPHA:1896 |
Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries, Cryptorchidism, Intrauterine growth retardation, Ureteropelvi... |
OMIM:617557 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Hepatoblastoma, Hepatomegaly, Hypospadias, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:312870 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... |
ORPHA:93111 |
Intellectual Disability, Buenos-Aires Type |
|
Short stature, Hydronephrosis |
ORPHA:3079 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Short stature, Valvular pulmonary stenosis, Vesicouretera... |
OMIM:300707 |
Mosaic Trisomy 8 |
|
Short stature, Cryptorchidism, Hydronephrosis, Vesicoureteral reflux, Decreased testicular size |
ORPHA:96061 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Short stature, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentr... |
OMIM:222700 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Cryptorchidism, Ascending tubular ... |
ORPHA:444072 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Shor... |
ORPHA:2322 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Recurrent otitis media, Cholelithi... |
OMIM:301066 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Bradycardia, Prolonged neonatal jaundice |
ORPHA:226307 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Pulmonary artery stenosis, Pa... |
ORPHA:2255 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acn... |
ORPHA:117 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Bilobate gallbladder, Rhizomelia, Postnatal growth retardation... |
OMIM:261540 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Patent ductus arteriosus, Hypoplastic aorti... |
OMIM:306955 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Postnatal growth retard... |
ORPHA:96191 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Neoplasm, Conjunctivitis... |
ORPHA:906 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Transient ischemic attack, Abnormality of the upper urinary tract, Growth delay, Hyd... |
ORPHA:2995 |
Apert Syndrome |
|
Overriding aorta, Acne, Cryptorchidism, Rhizomelic arm shortening, Chronic otitis media, Hydronep... |
OMIM:101200 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema... |
ORPHA:79403 |
Tarp Syndrome |
|
Cryptorchidism, Horseshoe kidney, Intrauterine growth retardation, Tetralogy of Fallot, Persisten... |
ORPHA:2886 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Cryptorchidism, Arteria lusoria, Heart murmur, Vesicoureteral reflux, Micro... |
OMIM:618653 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
Au-Kline Syndrome |
|
Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Hyp... |
OMIM:616580 |
Trisomy 18 |
|
Short stature, Abnormality of the upper urinary tract, Cryptorchidism, Growth delay, Intrauterine... |
ORPHA:3380 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Proportionate short stature, Growth delay, Periodontitis, Type I diabetes mellitus, Moderate albu... |
OMIM:619269 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... |
ORPHA:909 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Supernumerary nipple, Postnatal growth retardation, Patent ductus ar... |
OMIM:257920 |
Occipital Horn Syndrome |
|
Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreased circulating... |
OMIM:304150 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, C... |
OMIM:618280 |
Autosomal Recessive Robinow Syndrome |
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Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Abnormal aortic morphology, Di... |
ORPHA:1507 |
Steinert Myotonic Dystrophy |
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Brain neoplasm, Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non... |
ORPHA:273 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Elevated hepatic transaminase, Failure to thrive, Overweight, Jaundice, Obesity, Vomiting, Consti... |
OMIM:619475 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
Thakker-Donnai Syndrome |
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Hydronephrosis, Intrauterine growth retardation, Tetralogy of Fallot, Transposition of the great ... |
ORPHA:1780 |
Endove Syndrome, Limb-Only Type |
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Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Otitis media, Vesicoureteral reflux, Hypospadias, Abnormality of the kidney, Short stature, Crypt... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Otitis media, Vesicoureteral reflux, Hypospadias, Abnormality of the kidney, Short stature, Crypt... |
ORPHA:353277 |
Atresia Of Urethra |
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Renal dysplasia, Pulmonary insufficiency, Renal insufficiency, Recurrent urinary tract infections... |
ORPHA:105 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
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Postnatal growth retardation, Intrauterine growth retardation, Hydronephrosis |
ORPHA:254528 |
Congenital Tricuspid Valve Dysplasia |
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Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Anomalous pulmonary venous return, Intrauter... |
ORPHA:555874 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Absence of Stensen du... |
OMIM:604292 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Bradycardia |
OMIM:218700 |
22Q11.2 Deletion Syndrome |
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Abnormal aortic arch morphology, Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral reflux, C... |
ORPHA:567 |
Robinow Syndrome, Autosomal Recessive 1 |
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Short stature, Cryptorchidism, Nephrolithiasis, Nephrocalcinosis, Right ventricular outlet tract ... |
OMIM:268310 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
Teebi-Shaltout Syndrome |
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Ureteral stenosis, Short stature, Horseshoe kidney, Aortic valve stenosis, Hydronephrosis |
OMIM:272950 |
Sapho Syndrome |
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Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Neop... |
ORPHA:793 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Calcification of the aorta, Mitral stenosis |
OMIM:231005 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Abnormal mitochondrial shape |
ORPHA:543470 |
Charge Syndrome |
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Aortic arch aneurysm, Short stature, Postnatal growth retardation, Cryptorchidism, Patent ductus ... |
ORPHA:138 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation of aorta |
OMIM:619480 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Hypospadias, Unilateral renal agenesis, Postnatal growth retardation, Patent ductus arteriosus, T... |
ORPHA:487796 |
Arboleda-Tham Syndrome |
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Recurrent urinary tract infections, Bilateral cryptorchidism, Patent ductus arteriosus, Growth de... |
OMIM:616268 |
Penile Agenesis |
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Urethral atresia, male, Hydroureter, Maternal diabetes, Cryptorchidism, Fetal pyelectasis, Bilate... |
ORPHA:49 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Renal dysplasia, Short stature, Cyst of the ductus choledochus, Patent ductus arteriosus, Cardiom... |
ORPHA:480880 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Achalasia, Ineffective esophageal peristalsis, Sinus bradycardia |
OMIM:619482 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
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Patent ductus arteriosus, Ureteral triplication, Hydronephrosis, Absent nipple |
OMIM:104350 |
Autosomal Recessive Spastic Paraplegia Type 20 |
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Hydronephrosis, Growth delay, Short stature, Dysuria |
ORPHA:101000 |
Kikuchi-Fujimoto Disease |
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Elevated hepatic transaminase, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein c... |
ORPHA:50918 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
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Intrauterine growth retardation, Constipation, Hepatic steatosis, Gastroesophageal reflux |
OMIM:619934 |
Homozygous Familial Hypercholesterolemia |
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Optic neuropathy, Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, ... |
ORPHA:391665 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Sinusitis, Short stature, Renal hypoplasia/aplasia, Schwannoma, Abnormal renal morphology, Ossify... |
ORPHA:363700 |
Neonatal Adrenoleukodystrophy |
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Abnormality of the liver, Short stature |
ORPHA:44 |
Floating-Harbor Syndrome |
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Hypospadias, Renal agenesis, Short stature, Cryptorchidism, Dilatation of the renal pelvis, Stage... |
ORPHA:2044 |
Pfeiffer Syndrome Type 3 |
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Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
Williams Syndrome |
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Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, A... |
ORPHA:904 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Absence of Stensen du... |
OMIM:129900 |
Ogden Syndrome |
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Short stature, Postnatal growth retardation, Microvesicular hepatic steatosis, Jaundice, Cryptorc... |
OMIM:300855 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Supernumerary nipple, Cryptorchidism, Growth delay, Vesicoureteral reflux, Hydronephrosis, Aortic... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Supernumerary nipple, Cryptorchidism, Growth delay, Vesicoureteral reflux, Hydronephrosis, Aortic... |
ORPHA:352665 |
Campomelic Dysplasia |
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Short stature, Hydronephrosis |
ORPHA:140 |
Peters Plus Syndrome |
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Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal... |
ORPHA:709 |
Vater/Vacterl Association |
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Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retardation, Paten... |
OMIM:192350 |
Okamoto Syndrome |
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Ureteropelvic junction obstruction, Urinary incontinence, Splenomegaly, Unilateral renal hypoplas... |
ORPHA:2729 |
Robinow Syndrome |
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Multicystic kidney dysplasia, Short stature, Cryptorchidism, Coarctation of aorta, Pulmonic steno... |
ORPHA:97360 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Cirrhosis, Elevated he... |
OMIM:300868 |
Cousin Syndrome |
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Disproportionate short stature, Rhizomelia, Hydronephrosis |
OMIM:260660 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Short stature, Cryptorchid... |
OMIM:619522 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Episcleritis, Hydroureter, Severe short stature, Eczema, Abnormality of the kidney, Abnormality o... |
ORPHA:2273 |
Congenital Myopathy 17 |
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Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
Frontometaphyseal Dysplasia 1 |
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Hydroureter, Hydronephrosis |
OMIM:305620 |
Coffin-Siris Syndrome 1 |
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Hydroureter, Hypospadias, Short stature, Ectopic kidney, Postnatal growth retardation, Cryptorchi... |
OMIM:135900 |
Complement Factor I Deficiency |
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Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Melnick-Needles Syndrome |
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Ureteral stenosis, Stillbirth, Recurrent otitis media, Pulmonary arterial hypertension, Hydroneph... |
OMIM:309350 |
Congenital Total Pulmonary Venous Return Anomaly |
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Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Juvenile Dermatomyositis |
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Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto... |
ORPHA:93672 |
Charge Syndrome |
|
Hypoparathyroidism, Overriding aorta, Renal agenesis, Decreased response to growth hormone stimul... |
OMIM:214800 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
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Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Abdominal mass, Cystic renal dysplasia |
OMIM:615989 |
Floating-Harbor Syndrome |
|
Hypospadias, Short stature, Cryptorchidism, Atopic dermatitis, Glandular hypospadias, Coarctation... |
OMIM:136140 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Stillbirth, Adrenal gland dysgenesis, Intrauterine growth retardat... |
OMIM:236680 |
Kabuki Syndrome 1 |
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Ureteropelvic junction obstruction, Crossed fused renal ectopia, Short stature, Postnatal growth ... |
OMIM:147920 |
Chime Syndrome |
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Abnormality of the kidney, Acute leukemia, Transposition of the great arteries, Tetralogy of Fall... |
ORPHA:3474 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Short stature, Decreased serum iron, Cryptorchidism, Patent ductus arteriosus, Anomalous origin o... |
ORPHA:438213 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Growth delay, Neurogenic bladder |
OMIM:616973 |
Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Hypospadias, Ureteral obstruction |
ORPHA:90652 |
White-Kernohan Syndrome |
|
Recurrent otitis media, Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
Al-Gazali Syndrome |
|
Recurrent pneumonia, Hydronephrosis |
OMIM:609465 |
Viss Syndrome |
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Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Short stature, Arterial tortu... |
OMIM:619472 |
Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Keratoconjunctivitis, Hydronephrosis,... |
ORPHA:2363 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Recurrent skin infections, Cryptorchidism, Nephrot... |
OMIM:601776 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Hydroureter, Tricuspid stenosis, Valvular pulmonary stenosis, Arteria lu... |
OMIM:212093 |
Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Breast hypoplasia, Neurobl... |
ORPHA:506358 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Cryptorchidism, Epispadias, Vesicovagi... |
OMIM:258040 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Abnormal salivary gland morphology, Abnormal urine alpha-k... |
ORPHA:31 |
Frontometaphyseal Dysplasia |
|
Hydronephrosis, Urethral stenosis, Ureteral obstruction, Growth delay |
ORPHA:1826 |
Mowat-Wilson Syndrome |
|
Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, R... |
ORPHA:2152 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Skin rash, Protei... |
ORPHA:761 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Severe short stature, Abnormality of the kidney, Abnormality of the upper urinary tr... |
ORPHA:2636 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Laryngeal papilloma, Short stature, Supernumerary nipple, Cryptorchidism, H... |
OMIM:305600 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Pulmonary artery sling, Urinary incontinence, Short st... |
ORPHA:261537 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short stature, Rhizomelia, Cryptorchidism, Right ventricular outlet tract obstruction, Micropenis... |
OMIM:180700 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, R... |
ORPHA:261552 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Stillbirth, Dilatation ... |
OMIM:304120 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Patent ductus arteriosus, Bifid ureter, Hydronephrosis, Renal dupli... |
OMIM:267750 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis |
OMIM:236700 |
Campomelic Dysplasia |
|
Disproportionate short-limb short stature, Neonatal short-limb short stature, Hypospadias, Hydron... |
OMIM:114290 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Nephrocalcinosis, Abnorma... |
ORPHA:79500 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula... |
OMIM:115250 |
Monosomy 22Q13.3 |
|
Recurrent skin infections, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephritis, Renal... |
ORPHA:48652 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Multicystic kidney dysplasia, Elevated circulating creatine kinase con... |
OMIM:615287 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis |
OMIM:271520 |
Osteogenesis Imperfecta, Type Vii |
|
Rhizomelia, Short stature, Hypoplastic pulmonary veins, Absent pulmonary artery, Hydronephrosis |
OMIM:610682 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Vasculitis, Recurrent pneumonia... |
OMIM:617718 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
Cogan Syndrome |
|
Aortic regurgitation, Episcleritis, Keratitis, Vasculitis, Uveitis, Large vessel vasculitis, Scle... |
ORPHA:1467 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hydronephrosis, Hypocalcemia, Recurrent pneumonia, Eczema |
OMIM:620330 |
Mesomelia-Synostoses Syndrome |
|
Mesomelic short stature, Hydronephrosis |
OMIM:600383 |
Genitopatellar Syndrome |
|
Cryptorchidism, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:606170 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Arrhythmia |
ORPHA:3220 |
Phacoanaphylactic Uveitis |
|
Anterior uveitis, Keratitis, Hyphema, Retinal arteritis, Panuveitis, Posterior uveitis |
ORPHA:209959 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |