Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Fever, Familial Lifelong Persistent |
|
Fever |
OMIM:228400 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... |
OMIM:231100 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Fever |
ORPHA:183713 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... |
ORPHA:69663 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance |
ORPHA:2274 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Melorheostosis With Osteopoikilosis |
|
Hypertension, Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Dietary Iron Overload Disease |
|
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Elevated circulating alanine aminot... |
OMIM:618805 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:79084 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Fever |
ORPHA:319600 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Ataxia, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... |
OMIM:614480 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Increased ... |
OMIM:300635 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Eczema, Decreased liver function, Cirrhosis |
ORPHA:79278 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:294 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Gait disturbance |
OMIM:618400 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619386 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:619874 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Stomatitis |
ORPHA:438274 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Eczema |
OMIM:177000 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Alpha-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:846 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Ataxia, Joint stiffness, Osteoporosis, Increased bone density wit... |
OMIM:136300 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Increased ... |
ORPHA:158061 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Choreoathetosis, Lethargy, Failure to thrive, Pancreatitis |
ORPHA:79312 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
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 |
Rft1-Cdg |
|
Hepatomegaly, Failure to thrive, Ataxia |
ORPHA:244310 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis, Difficulty walking |
ORPHA:564003 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
Chylous Ascites |
|
Ascites, Pancreatitis |
ORPHA:1160 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:266200 |
Obesity And Hypopigmentation |
|
Red hair, Hepatic steatosis, Obesity |
OMIM:620195 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis |
OMIM:235700 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Ab... |
ORPHA:521219 |
Beta-Thalassemia |
|
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis |
ORPHA:848 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Lipase Deficiency, Combined |
|
Pancreatitis |
OMIM:246650 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Increased muscle lipid content, Difficulty walking, ... |
OMIM:610717 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Choreoathetosis, Hepatomegaly, Pancreatitis, Lethargy |
ORPHA:289916 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Skin rash, Failure to thrive in infancy |
OMIM:619175 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Chronic active hepatitis, Atrophic gastritis, Asplenia, Iridocyclit... |
OMIM:240300 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79303 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... |
OMIM:251880 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Ataxia, Choreoathetosis, Lethargy, Pancreatitis |
ORPHA:27 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Cholestatic liver disease, Cholelith... |
ORPHA:79095 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... |
ORPHA:231222 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Failure to thrive in infancy, Pustule, Glucocortocoid-insensitive primary hyperald... |
ORPHA:171876 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... |
OMIM:214950 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Otitis media, F... |
OMIM:608971 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Frontal balding |
OMIM:160900 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, Port... |
ORPHA:171 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Hype... |
OMIM:201475 |
Mahvash Disease |
|
Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia |
OMIM:619290 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... |
OMIM:611182 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Hepatitis |
ORPHA:444463 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Ataxia, Hepatomegaly |
OMIM:619273 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Abnormal B-type natriuretic peptide concentration, Hepatic necrosis |
ORPHA:100093 |
Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Cholelithiasis, Jaundice, Gout |
OMIM:232800 |
Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:182900 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, Progressive cerebellar ataxia |
ORPHA:67046 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic steatosis, He... |
OMIM:231530 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly |
ORPHA:3166 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Failure to thriv... |
OMIM:232700 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:605911 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Hereditary Spherocytosis |
|
Hepatomegaly, Ataxia, Maculopapular exanthema, Splenomegaly, Jaundice, Gout, Cholelithiasis |
ORPHA:822 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive, Hepatic steatosis |
ORPHA:26792 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Decreased body weight, Cholelithiasis, Hepatic failure, Abnormalit... |
OMIM:614886 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function |
OMIM:616829 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619048 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97278 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis |
OMIM:608600 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:435651 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... |
OMIM:611881 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Gait disturbance |
ORPHA:2398 |
Sandhoff Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Abnormal glycosphingolipid metabolism, Failure to thrive |
ORPHA:796 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn... |
ORPHA:101330 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Primary adrenal insufficiency, Hepatic failure, Failure to thrive, Hepatic steatosis |
OMIM:617872 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Hepatic steatosis, Hirsutism, Polycystic ovaries |
OMIM:608709 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis, Hirsutism |
OMIM:612526 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cryptorchidism, Patchy alopecia, Shuffling gait, Decreased body weight, Cholelithiasis, Failure t... |
OMIM:300534 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Tubulointerstitial nephritis, Lethargy, Failure to thrive, Pancreatitis |
OMIM:251000 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia |
OMIM:618815 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Curly hair, Splenomegaly, Synophrys, Woolly hair, Coarse hair, Recurrent pancreatit... |
OMIM:618268 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Generalized hirsutism, Polycystic ovaries, Hepatic steatosis, Pancrea... |
ORPHA:2348 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... |
ORPHA:26791 |
Triosephosphate Isomerase Deficiency |
|
Splenomegaly, Jaundice, Unsteady gait, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis... |
OMIM:615512 |
Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis |
OMIM:620137 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac... |
ORPHA:829 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Small for gestational age, Alopecia totalis |
OMIM:618775 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis |
OMIM:615947 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Generalized hirsutism, Polycystic ovaries, Cirrhosis, Hepatic steatos... |
ORPHA:79083 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97261 |
Primary Biliary Cholangitis |
|
Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia, Hepatocellul... |
ORPHA:186 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Immunodeficiency 48 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Eczematoid dermatitis, Failure to thrive |
OMIM:269840 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
Propionic Acidemia |
|
Hepatomegaly, Eczema, Lethargy, Failure to thrive, Pancreatitis |
OMIM:606054 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... |
OMIM:264470 |
Cach Syndrome |
|
Limb ataxia, Dysmetria, Hepatosplenomegaly, Optic neuritis, Truncal ataxia, Pancreatitis |
ORPHA:135 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis |
OMIM:603903 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
Maple Syrup Urine Disease |
|
Lethargy, Ataxia, Pancreatitis |
OMIM:248600 |
Morbid Obesity And Spermatogenic Failure |
|
Hepatic steatosis, Obesity |
OMIM:615703 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Generalized hirsutism |
ORPHA:79087 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia |
ORPHA:95717 |
Immunodeficiency 56 |
|
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... |
OMIM:615207 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Alopecia, Hepatic steatosis, Ataxia |
OMIM:275630 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Hepatitis, Bronchi... |
ORPHA:33110 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:620010 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Failure to thrive, Decreased liver function, Cholestasis |
ORPHA:570422 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Iridocyclitis, Unsteady gait, Limb ataxia, Gait disturbance, Difficulty walking, Trunca... |
ORPHA:412057 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Sickle Cell Anemia |
|
Pigment gallstones, Abnormality of the spleen, Osteomyelitis, Cholestasis |
ORPHA:232 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hepatic fibrosis, Hepatoc... |
ORPHA:247585 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... |
OMIM:618549 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Increased circulatin... |
ORPHA:169160 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Osteoarthritis, Hepatic steatosis, Cirrhosis |
OMIM:606069 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Failure to thrive, Brittle hair, Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Recurr... |
ORPHA:47 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Choreoathetosis, Nonprogressive cerebellar ataxia, Aspiration pneumonia, Failure to thrive, Pancr... |
ORPHA:431361 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Ataxia, Inability to walk, Decreased liver function, Failure to thrive,... |
ORPHA:70472 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Cln3 Disease |
|
Ataxia, Bradykinesia, T-wave inversion, Shuffling gait, Bradycardia, Loss of ambulation |
ORPHA:228346 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... |
ORPHA:59303 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Leth... |
OMIM:600649 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Failure to thrive |
ORPHA:172 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly |
OMIM:609016 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Rotor Syndrome |
|
Jaundice, Storage in hepatocytes, Intermittent jaundice |
ORPHA:3111 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ataxia, Lethargy |
OMIM:618224 |
Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Metachromatic Leukodystrophy |
|
Gallbladder dysfunction, Ataxia, Cholecystitis, Gait disturbance |
OMIM:250100 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:614921 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:615158 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelashes, Conjunctivitis... |
OMIM:263700 |
Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:46532 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Ataxia, Gait ataxia, Cirrhosis, Hepatic steatosis, Generalized hirsutism |
ORPHA:363400 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive |
OMIM:230350 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... |
OMIM:278000 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration |
OMIM:614876 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites |
ORPHA:890 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Dysgammaglobulinemia, Increased circulating IgA level, Splenomegaly, Hepatitis, Chr... |
OMIM:308230 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Decre... |
ORPHA:444490 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Illum Syndrome |
|
Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neona... |
OMIM:214900 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Parathyroid carcinoma, Recurrent pancreatitis, Pa... |
OMIM:145001 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic fibrosis, Hepatic failure, Hepatic ... |
OMIM:616719 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Limb joint contracture, Bradycardia |
OMIM:619814 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Avian Influenza |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:454836 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Lethargy |
OMIM:201450 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis |
OMIM:614602 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Cachexia, Cardiomegaly, Decreased liver func... |
ORPHA:42 |
Legionnaires Disease |
|
Pericarditis, Ataxia, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious en... |
ORPHA:549 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Joint contracture of the 5th finger, Atrioventricular block, Truncal ataxia |
OMIM:614407 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal fibrosis, Hepatic fibrosis... |
ORPHA:369 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Decreased circulating antibody... |
ORPHA:381 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Panniculitis, Cirrhosis, Hepatic steatosis,... |
ORPHA:79086 |
Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Synophrys, Obesity, Hepatosplenomegaly, Cholecystitis, Recurrent otitis media, Chol... |
OMIM:301066 |
Rat-Bite Fever |
|
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... |
ORPHA:31205 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries |
ORPHA:280356 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis |
OMIM:238970 |
Hereditary Elliptocytosis |
|
Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice |
ORPHA:288 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Elevated circulating C-reactive protein co... |
ORPHA:676 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Failure to thrive,... |
OMIM:619487 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97283 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... |
OMIM:209920 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Hypothyroidism, Obesity, Gout, Hepatic steatosis |
ORPHA:412 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Elevated circulating glutaric acid concentration, Hepatic periportal necr... |
OMIM:231680 |
Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly |
OMIM:613978 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Synophry... |
OMIM:619064 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Inability to walk, Recurrent pneumonia, Difficulty walking, Ch... |
ORPHA:464738 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly |
OMIM:606445 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Sinus bradycardia, Second degree atrioventricular block, Syncope, Palpitations, Difficulty walkin... |
OMIM:616812 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Ataxia, Difficulty walking |
OMIM:213700 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Ovarian cyst, Increased circulating cortisol level, Truncal obesity, Primary hypercortisolism, Pa... |
OMIM:610475 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... |
ORPHA:2552 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ataxia, Thick hair, Splenomegaly,... |
OMIM:613489 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Weight loss, Hyperhidrosis |
ORPHA:86893 |
Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice |
ORPHA:3202 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Difficulty walking, Truncal ataxia, H... |
ORPHA:369840 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Failure to thrive, Lethargy |
ORPHA:28 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
3-Methylglutaconic Aciduria, Type V |
|
Ataxia, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic ste... |
OMIM:610198 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:613404 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density, Vasculitis |
ORPHA:37748 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis, Primary hypothyroidism |
ORPHA:300536 |
Congenital Enterovirus Infection |
|
Skin rash, Myocarditis, Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatic failure,... |
ORPHA:292 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, U... |
OMIM:618935 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Annular pancreas, Panc... |
OMIM:615710 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure |
ORPHA:774 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Melioidosis |
|
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... |
ORPHA:31202 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Spleno... |
OMIM:308240 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Hiatus hernia, Panc... |
OMIM:610199 |
Pancreatitis, Hereditary |
|
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency |
OMIM:167800 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Pancreatitis, Weight loss |
ORPHA:188 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Pelvic mass, Jaundice, Ovarian neoplasm, Weight loss, Ascites, Pancreat... |
ORPHA:370348 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Cystic Fibrosis |
|
Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos... |
OMIM:219700 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Inability to walk, Synophrys, Severe failure to thrive, Cholelithiasis, Annular pan... |
ORPHA:97297 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan... |
ORPHA:98908 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Skin rash, Cholestasis |
OMIM:105200 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Arrhythmia, Gait disturbance, Bradycardia |
OMIM:609286 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pancreatitis |
ORPHA:70578 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,... |
ORPHA:139402 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Pneumonia, Os... |
ORPHA:36234 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Ataxia, Micronodular cirrhosis, Obesity, D... |
ORPHA:98907 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hepatomegaly, Chilblains, Loss of ambulation |
OMIM:615010 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia |
ORPHA:95716 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas |
ORPHA:2924 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Lichen Planopilaris |
|
Abnormal intestine morphology, Hepatitis |
ORPHA:525 |
Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Obesity |
OMIM:615996 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Gout, Inflammatio... |
OMIM:232220 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan... |
OMIM:208085 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Splenomegaly, Jaundice, Failure to thrive, Exocrine p... |
OMIM:612714 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:237800 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Arthritis, Cirrhosis, Lethargy |
OMIM:602390 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Failure to thrive, Superficial dermal perivascular inflammatory infiltrate, Eczema,... |
ORPHA:83617 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... |
OMIM:601005 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content |
OMIM:261750 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Decreased liver function, Lethargy |
OMIM:246900 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Alopecia, Ascites |
ORPHA:100025 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Ataxia |
OMIM:615924 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Eczema, Increased circulating IgE level, Ileus, Hepatitis, A... |
OMIM:304790 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur... |
OMIM:614300 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly, Hypopituitarism, Hypothyroi... |
OMIM:619013 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Low anterior hairline, Polycystic ovaries, Low posterior hairline, Cirrhosis, Failu... |
ORPHA:528 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis |
ORPHA:977 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Erysipelas |
OMIM:615704 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Splenomegaly, Generalized hirsutism, Polycystic ovaries, Premature graying of hair,... |
ORPHA:280365 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Hepatomegaly, Failure to thrive, Increased muscle lipid content |
OMIM:500009 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ataxia, Jaundice, Lipid accumula... |
ORPHA:20 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... |
OMIM:261680 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Acholic sto... |
ORPHA:1414 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Bradycardia, Absent ossification of capital femoral epiphysis |
ORPHA:226313 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Gout, Hepatocellular carcinoma, Pancreatitis, Enlarg... |
OMIM:232200 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Weight loss, Arthritis, Infectious encephalitis |
ORPHA:42642 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis |
OMIM:613313 |
Ebola Hemorrhagic Fever |
|
Lethargy, Acute pancreatitis, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Bradycardia, Camptodactyly |
OMIM:610015 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis |
OMIM:613877 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Parathyroid adenoma, Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Decreased circulatin... |
ORPHA:572 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... |
OMIM:243150 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice |
OMIM:613977 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... |
OMIM:269200 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... |
ORPHA:1163 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Ascites, Weight loss |
ORPHA:2198 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... |
ORPHA:562 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... |
OMIM:235555 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hepatic steatosis |
OMIM:615980 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:615486 |
Tetanus |
|
Hypertension, Tachycardia, Stiff neck, Bradycardia |
ORPHA:3299 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hepatic steatosis |
OMIM:615238 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... |
ORPHA:183675 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased sarcoplasmic glycogen, Splenomegaly, Hepat... |
ORPHA:264580 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Fever |
OMIM:614674 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Decreased respon... |
OMIM:203800 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Hypothyroidism, Hepatocellular adenoma, Gout, Polycystic ovaries... |
ORPHA:79259 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hepatic steatosis, Hirsutism, Cirrhosis, Polycystic ovaries |
OMIM:604367 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Increased bone mineral density, Prolonged QT interval, Ventri... |
ORPHA:36913 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Diffuse pancreatic islet hyperpl... |
ORPHA:276575 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Bradycardia |
OMIM:614498 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Fine hair, Truncal obesity, Sparse hair, Failure to thrive, Pancreatitis |
OMIM:222700 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Elevated circul... |
OMIM:300972 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hepatosplenomegaly, Hepatic fibrosis, Failur... |
ORPHA:79322 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Lethargy |
OMIM:613561 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Tricuspid regurgitation, Achilles tendon contracture, Osteoporosi... |
OMIM:620351 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Polycystic ovaries |
ORPHA:79085 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:614702 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Metachromatic Leukodystrophy |
|
Ataxia, Abnormal gallbladder morphology, Hemobilia, Tip-toe gait, Gait disturbance, Neoplasm of t... |
ORPHA:512 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Ataxia, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver functio... |
ORPHA:77293 |
Acute Lung Injury |
|
Acute pancreatitis, Pneumonia |
ORPHA:178320 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Cachexia, Splenomegaly, Abnormality of the spleen, Limb ataxia, Hepatosplenomeg... |
ORPHA:2072 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hyperammonemia, Hepatocellular nec... |
ORPHA:90062 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Diffuse pancreatic islet hyperpl... |
ORPHA:276556 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly |
OMIM:607685 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... |
OMIM:277900 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:145981 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney |
OMIM:615285 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... |
ORPHA:100086 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Skin rash, Small for gestational age, Abnormality of the pancreas,... |
ORPHA:69665 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hepatomegaly, Alopecia, Brittle hair, Failure to thrive |
ORPHA:50812 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Esophageal varix, Incre... |
OMIM:215600 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Elevated circulating alanine aminotr... |
OMIM:615381 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Cryptorchidism |
OMIM:613861 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circu... |
OMIM:617253 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Prolonged QT interval, Tachycardia, Atrial fibrillation, Flexion contracture, Osteopo... |
OMIM:613327 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Conjunctivitis |
OMIM:603552 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Intrahe... |
OMIM:617093 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Hepatic steatosis, Hirsutism |
OMIM:151660 |
Immunodeficiency 7 |
|
Hepatomegaly, Splenomegaly, Patchy alopecia, Chronic oral candidiasis, Recurrent otitis media, Fa... |
OMIM:615387 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Hepatomegaly, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti... |
ORPHA:91138 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Skin rash, Eczema, Splenomegaly |
ORPHA:2584 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Hepatomegaly, Abnormality of the liver, Increased muscle lipid... |
ORPHA:254864 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice... |
ORPHA:858 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Skin rash, Pneumonia, Recurrent pneumonia, Hypoplasia of the thymus, Chronic oral c... |
OMIM:300400 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts |
OMIM:612284 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Ataxia, Failure to thrive in infancy, Splenomegaly, Athetosis, Gait disturbance, As... |
ORPHA:834 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H... |
ORPHA:228426 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Steatorrhea |
ORPHA:440713 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Ataxia, Splenomegaly, Hyperhidrosis, Weight loss |
ORPHA:391 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hepatic steatosis |
ORPHA:210548 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Hepatomegaly, Ataxia, Decreased body weight |
OMIM:231000 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... |
OMIM:307200 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... |
OMIM:613873 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... |
OMIM:259700 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Hyperhidrosis, Failure to thrive, Hyp... |
ORPHA:349 |
Schimke Immuno-Osseous Dysplasia |
|
Small for gestational age, Abnormality of thyroid physiology, Minimal change glomerulonephritis, ... |
ORPHA:1830 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:100024 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:66661 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Bronchiectasis, Arthritis, Recurrent otitis media, Failure... |
ORPHA:397596 |
Rett Syndrome |
|
Inability to walk, Bradykinesia, Gait disturbance, Cholecystitis, Difficulty walking, Failure to ... |
ORPHA:778 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Failure to thrive, Lethargy |
OMIM:210200 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ataxia, Lethargy, Hepatic failure |
ORPHA:2394 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Ataxia, Acne, Orchitis, Splenomegaly, Re... |
ORPHA:117 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:605814 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Polycystic ovaries... |
OMIM:608594 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Diffuse pancreatic islet hyperpl... |
ORPHA:276580 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Interstitial pneumonitis, Cirrhosis, Oral leukoplakia, Hepatic necrosis |
OMIM:127550 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Esophagitis, He... |
ORPHA:541423 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Hashimoto thyroiditis,... |
OMIM:613385 |
Necrotizing Enterocolitis |
|
Shock, Lethargy, Bradycardia, Hypotension |
ORPHA:391673 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Hepatic steatosis, Decreased liver function, Lethargy |
OMIM:614922 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Loss of ambulation, Tip-toe gait, Bradycardia, Congenital foot contractures |
ORPHA:565624 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi... |
OMIM:616860 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Hepatomegaly |
OMIM:133180 |
Diastrophic Dysplasia |
|
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthrit... |
ORPHA:342 |
Cerebrotendinous Xanthomatosis |
|
Ataxia, Gait disturbance, Prolonged neonatal jaundice, Cholelithiasis, Hypothyroidism |
ORPHA:909 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Increased muscle lipid content,... |
ORPHA:565612 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S... |
OMIM:619418 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Rhinitis, Generalized hirsutism |
ORPHA:93476 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Ataxia, Hypothyroidism, Dysmetria, Hepatic fibrosis, Failure t... |
OMIM:616263 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Hepatomegaly |
OMIM:603902 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis |
ORPHA:228305 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea... |
ORPHA:415 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Failure to thrive, Microvesicular hepatic steatosis, Jaundice, Cho... |
OMIM:617156 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Tubulointerstitial nephritis, Cholecystitis, Sialadenitis, Abnormal mesentery morp... |
ORPHA:449395 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Alopecia, Decreased response to growth hormone stimulation test, A... |
ORPHA:273 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Tip-toe gait, Left ventricular hyp... |
ORPHA:746 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Failure to thrive, Hepati... |
ORPHA:71 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... |
ORPHA:1782 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Acne, Seborrheic dermatitis, Cryptorchidism, Splenomegaly, O... |
ORPHA:567 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... |
OMIM:300755 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Obesity, Pancreatitis, Elevated hepatic transaminase |
OMIM:619471 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Portal vein hypoplasia, Ascites |
OMIM:619433 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenom... |
ORPHA:3260 |
Proximal Spinal Muscular Atrophy |
|
Multiple joint contractures, Inability to walk, Flexion contracture, Elbow flexion contracture, K... |
ORPHA:70 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusi... |
OMIM:240500 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Elevated circulating C-reactive protein concentration, Colitis, Hypoalbuminemia,... |
OMIM:619381 |
Encephalitis Lethargica |
|
Lethargy, Stiff neck, Bradycardia |
ORPHA:83600 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent otitis media, Failure t... |
OMIM:618495 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosplenomegaly, Unco... |
OMIM:618278 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Hepatic steatosis |
ORPHA:52430 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Ataxia, Inability to walk, Athetosis,... |
OMIM:615356 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Polycystic ovaries... |
OMIM:269700 |
Distal Duplication 5Q |
|
Cryptorchidism, Eczema, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Decreased response to growth horm... |
ORPHA:470 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Thyroiditis, Neoplasm o... |
ORPHA:733 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Celiac disease, Iridocyclitis, Xerostomia, Bil... |
ORPHA:227982 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Celiac disease, Iridocyclitis, Xerostomia, Biliary cirrhosis, Hepatitis, Decr... |
ORPHA:227990 |
Digeorge Syndrome |
|
Parathyroid agenesis, Acne, Seborrheic dermatitis, Splenomegaly, Hypothyroidism, Recurrent pneumo... |
OMIM:188400 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Gait disturbance, Decreased liver function, Diffuse hepatic steatosis, Fail... |
ORPHA:436271 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Hepatospleno... |
ORPHA:231226 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Hepatomegaly |
OMIM:618852 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Hypercalcemia, Celiac disease, Pituitary adenoma, Adrenocortico... |
ORPHA:199299 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Synophrys, Inability to walk, Low anterior hairline, Recurrent pneumo... |
OMIM:617303 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Bradykinesia, Steppage gait, Decreased liver functio... |
OMIM:613280 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis |
ORPHA:298 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Alopecia, Broad-based gait, Small for ge... |
ORPHA:2959 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recur... |
OMIM:607594 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Acne, Pituitary adenoma, Primary hyperparathyroidism, Increased body weight, Increased ... |
ORPHA:189427 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Fever, Malignant hyperthermia |
OMIM:601887 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Aplasia of the thymus, Pneumonia, Malabsorption, Atypical or prolonged hepatitis, Thyr... |
ORPHA:83471 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Failure to thrive,... |
ORPHA:79319 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, S... |
OMIM:257200 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Increased hepatic glycogen content, Large for gestational age |
ORPHA:293964 |
Typhoid |
|
Hepatomegaly, Ataxia, Skin rash, Splenomegaly, Lethargy, Infectious encephalitis |
ORPHA:99745 |
19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Cryptorchidism, Synophrys, Obesity, Hypothyroidism, Generalized hirsutism |
ORPHA:254346 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia |
ORPHA:90673 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Increased body weight, Hy... |
ORPHA:263455 |
Wolman Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Ascites, Adrenal insufficiency, Hepatic failure |
ORPHA:75233 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Splenomegaly... |
OMIM:170100 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Cachexia, Splenomegaly, Dystrophic toenail, Patchy alopecia, Dystrophic f... |
ORPHA:2930 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Cirrhosis, Hep... |
OMIM:235200 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Polycystic ovaries |
ORPHA:435660 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Pneumonia, Splenomegaly, Thyroiditis, Erythroderma, Failure to thrive, Hy... |
ORPHA:39041 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormality of temperature regulation, Heat intolerance |
ORPHA:2926 |
Peutz-Jeghers Syndrome |
|
Melanonychia, Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abn... |
ORPHA:2869 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P... |
ORPHA:228123 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Adrenal insufficiency, Failure to... |
OMIM:609981 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Failure to thrive |
OMIM:615085 |
Zygomycosis |
|
Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, Hepatitis, Ente... |
ORPHA:73263 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... |
OMIM:261515 |
Camurati-Engelmann Disease |
|
Waddling gait, Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long ... |
OMIM:131300 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:600740 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Hepatomegaly,... |
ORPHA:3261 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Weight loss, Conjunctivitis, Pancreatitis |
ORPHA:36426 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
8P Inverted Duplication/Deletion Syndrome |
|
Cryptorchidism, Synophrys, Aplasia/Hypoplasia of the gallbladder, Frontal balding |
ORPHA:96092 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Jaundice, Premature graying of hair |
ORPHA:79477 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Aortic valve stenosis, Osteopetrosis, Facial hyperostosis, Coarse... |
ORPHA:2780 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Triploidy |
|
Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas, Cryptorchidism |
ORPHA:3376 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Galactosemia I |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:230400 |
Propionic Acidemia |
|
Hepatomegaly |
ORPHA:35 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Weight loss, Conjunctivitis, Pancreatitis |
ORPHA:537 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Melas |
|
Hypoparathyroidism, Ataxia, Recurrent pancreatitis, Gait disturbance, Failure to thrive, Hypothyr... |
ORPHA:550 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Increased circulating IgG... |
ORPHA:319251 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Athetosis |
OMIM:266150 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pulmonary arterial hypert... |
ORPHA:77259 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Myasthenia Gravis |
|
Rheumatoid arthritis, Myositis, Hepatitis, Hashimoto thyroiditis |
ORPHA:589 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Dry hair, Brittle hair, Ataxia, Elevated circulating aspartate aminotransferase con... |
OMIM:207900 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Retroperitoneal fibrosis, Orchitis, Keratitis, Abnormality of the anterio... |
ORPHA:449563 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Lethargy |
ORPHA:156 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach... |
ORPHA:83469 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Increased circulating ferriti... |
OMIM:615846 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis |
ORPHA:85414 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure |
OMIM:615630 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:608836 |
Werner Syndrome |
|
Increased bone mineral density, Telangiectasia of the skin, Myocardial infarction, Joint stiffnes... |
ORPHA:902 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Limited hip extension, Flexion contracture, Retinal hemorrhage, Hypertension, Bradyc... |
OMIM:614653 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Abnormal mus... |
ORPHA:367 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis |
ORPHA:449427 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis |
OMIM:239000 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly |
OMIM:306000 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... |
ORPHA:91139 |
Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Ataxia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Sple... |
OMIM:253260 |
Transaldolase Deficiency |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Synophrys, Hepatos... |
OMIM:606003 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Ataxia, Hypothyroidism, Dysmetria, Hep... |
OMIM:212065 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... |
ORPHA:77297 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Choreoathetosis |
ORPHA:445038 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Small for gestational age, Pancreatic aplasia |
ORPHA:556955 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Ataxia, Decreased liver function, Increased intramyocellular lipid droplets, Trunca... |
OMIM:220110 |
Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Skin rash, Hepatitis |
ORPHA:1334 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Broad-based gait, Ataxia, Cardiomegaly, Hypothyroidi... |
ORPHA:14 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Failure to thrive, Ataxia, Splenomegaly, Lethargy, Alopecia of scalp, Decreased tes... |
OMIM:201100 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Brittle hair, Ataxia, Cholangitis, Microvesicular hepatic steatosi... |
OMIM:124000 |
Farber Lipogranulomatosis |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Arthritis |
OMIM:228000 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Villous atrophy, Eczema, Esophageal carcinoma, Bronchiectas... |
ORPHA:391487 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase |
ORPHA:99901 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:615631 |
Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Prostatitis, Weight loss, Ot... |
ORPHA:900 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepato... |
OMIM:232240 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... |
OMIM:618329 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopet... |
OMIM:618476 |
Peroxisome Biogenesis Disorder 3B |
|
Very long chain fatty acid accumulation, Hepatomegaly, Failure to thrive, Ataxia |
OMIM:266510 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Intestinal malrotation, Hepatitis, Intestinal atresia, Hypoplasia of the... |
ORPHA:436252 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Hepatosplenomegaly, A... |
OMIM:615122 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Central hypothyroid... |
ORPHA:1667 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Hypothyroidism... |
ORPHA:465508 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye |
ORPHA:33577 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Hepatomegaly, Glomerulonephritis, Thyroiditis |
OMIM:619375 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Hepatitis |
ORPHA:584 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of the pancreas, Abno... |
ORPHA:93111 |
Immunodeficiency 32B |
|
Hepatomegaly, Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis, Failure to thrive |
OMIM:226990 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Dysmetria, Hepatosplenomegaly, Generalized hypertrichosis, Loss of ambulati... |
ORPHA:93399 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Hyperparathyroidism |
OMIM:618107 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:143 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Oligoarthritis, Hepatic amyloidosis, ... |
OMIM:142680 |
Sézary Syndrome |
|
Hepatomegaly, Alopecia, Splenomegaly, Nail dystrophy, Erythroderma |
ORPHA:3162 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... |
ORPHA:728 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
Joubert Syndrome 8 |
|
Hepatomegaly, Ataxia, Obesity, Prolonged neonatal jaundice |
OMIM:612291 |
Spondyloenchondrodysplasia |
|
Skin rash, Pneumonia, Decreased response to growth hormone stimulation test, Hepatitis, Arthritis... |
ORPHA:1855 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure |
OMIM:611126 |
Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, I... |
OMIM:259900 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
Glycerol Kinase Deficiency |
|
Small for gestational age, Chronic pancreatitis, Cryptorchidism, Adrenal insufficiency, Lethargy |
OMIM:307030 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Increased bone density with cystic changes, Increased bone mineral density... |
ORPHA:94089 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ataxia, Mi... |
OMIM:203700 |
D-Glyceric Aciduria |
|
Bradycardia |
OMIM:220120 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Progressive gait ataxia, Tip-toe gait, Cholecystitis, Gait ataxia |
ORPHA:309256 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Elevated circul... |
OMIM:618500 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Failure to thrive, Small for gestational age, Biliary atresia, Congenital hypothyroidism, Pancrea... |
ORPHA:2255 |
Harderoporphyria |
|
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
ORPHA:2088 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, Coarse hair, Re... |
OMIM:605309 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... |
OMIM:267010 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Unsteady gait, Limb ataxia, Gait ataxia, Gait disturbance, Truncal ataxia, ... |
OMIM:619259 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Skin rash |
OMIM:601979 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter... |
ORPHA:93126 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ch... |
ORPHA:398124 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Orchitis, Splenomegaly, Jaundice, Epididymitis, Erythema nodosu... |
ORPHA:99827 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
Monosomy 13Q34 |
|
Hepatic steatosis, Horizontal eyebrow, Obesity |
ORPHA:96168 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Jaundice, Xerostomia, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, ... |
ORPHA:779 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Bronc... |
ORPHA:436159 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... |
ORPHA:763 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
ORPHA:348 |
Williams Syndrome |
|
Ataxia, Failure to thrive in infancy, Cardiomegaly, Cryptorchidism, Obesity, Dysmetria, Polycysti... |
ORPHA:904 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia |
ORPHA:90674 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Hyperproteinemia, Optic neur... |
ORPHA:509 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Epistaxis, Osteopetrosis |
OMIM:612840 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Sinus bradycardia, Congenital contracture, Arthrogryposis multiplex congenit... |
OMIM:618397 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Splenomegaly, Abnormal ... |
OMIM:216360 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Osteomyelitis, Arthritis, Septic arthritis, Failure to thrive |
OMIM:619423 |
3-Methylglutaconic Aciduria, Type Viib |
|
Choreoathetosis, Recurrent pneumonia, Hepatic steatosis, Ataxia |
OMIM:616271 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive |
OMIM:616672 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Lethargy, Failure to thrive, He... |
OMIM:229600 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Pneumonia, Splenomegaly, Hypoplasia of the thymus, Erythroderma, Failure ... |
OMIM:603554 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis... |
ORPHA:47612 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Pericarditis |
ORPHA:163596 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Elevated hepatic transaminase, Pancreatic fibrosis, Decreased r... |
ORPHA:699 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Interstitial pneumonitis |
OMIM:620296 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cholestatic liver disease, Failure to thrive |
ORPHA:5 |
Metachromatic Leukodystrophy, Adult Form |
|
Abnormal glycosphingolipid metabolism, Progressive gait ataxia, Cholecystitis, Difficulty walking... |
ORPHA:309271 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:99880 |
Aa Amyloidosis |
|
Hepatomegaly, Cholestasis, Adrenal insufficiency, Hypothyroidism, Enlarged kidney |
ORPHA:85445 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Splenomegaly, Thyroiditis, Uveitis, Keratoconjunctivitis sicca, Punctate keratitis,... |
OMIM:617388 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Bronchiectasis, ... |
OMIM:616100 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Eunuchoid habitus, Enlarged polycystic ovaries, Cryptorchidism, Obe... |
ORPHA:91 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Elevated hepatic iron concentrati... |
OMIM:619991 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Jaundi... |
ORPHA:99826 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Splenomegaly, Lymphadenitis, Cholestasis, In... |
OMIM:615895 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Ataxia, Bilateral cryptorchidism, Microvesicular hepatic steatosis... |
ORPHA:66634 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ... |
ORPHA:2331 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Ataxia, Osteolysis, Increased susceptibility to fractures, Gait d... |
ORPHA:77261 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Peritonitis, Pancreatitis, Acute colitis |
ORPHA:90038 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly, Hypopigmentation of hair |
OMIM:618541 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
Lujo Hemorrhagic Fever |
|
Shock, Stiff neck, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension |
ORPHA:319213 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism, Hypertrichosis |
OMIM:252930 |
Visceral Myopathy 1 |
|
Pancreatitis |
OMIM:155310 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis |
OMIM:619652 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis |
ORPHA:83597 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormal glycosphingolipid metabolism, Progressive gait ataxia, Cholecystitis |
ORPHA:309263 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic failure, Failure to thrive |
OMIM:602579 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder |
ORPHA:2075 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Bloom Syndrome |
|
Small for gestational age, Cryptorchidism, Bronchiectasis, Malar rash, Hepatic steatosis, Hypertr... |
OMIM:210900 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Hepatomegaly, Elevated hepatic iron concentration |
OMIM:615234 |
Listeriosis |
|
Pericarditis, Liver abscess, Ataxia, Pneumonia, Osteomyelitis, Pustule, Myocarditis, Jaundice, Pe... |
ORPHA:533 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:614887 |
Sepsis In Premature Infants |
|
Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Highly arched eyebrow, ... |
ORPHA:1454 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... |
ORPHA:94093 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... |
ORPHA:800 |
Citrullinemia, Classic |
|
Hepatomegaly, Ataxia, Cirrhosis, Lethargy, Failure to thrive |
OMIM:215700 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Hepatic calcification, Tubulointerstitial nephritis, Hepatic failure,... |
ORPHA:228308 |
Dengue Fever |
|
Hepatomegaly, Ascites, Skin rash, Lethargy |
ORPHA:99828 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Polysplenia |
ORPHA:1335 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Aplasia of the thymus, Pneumonia, Splenomegaly, Otitis media, Al... |
OMIM:602450 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Arthri... |
OMIM:617591 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Ataxia, Congestive heart failure, Osteolysis |
ORPHA:35687 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Hyper... |
ORPHA:275761 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Ataxia |
OMIM:610688 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Unsteady gait, Hyperhidrosis, Choreoathetosis, Incre... |
ORPHA:17 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ja... |
ORPHA:540 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Joint hypermobility, Sinus bradycardia |
OMIM:261990 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Elevated ... |
OMIM:619573 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Ataxia, Fetal ascites, Splenomegaly, Gait ataxia, P... |
OMIM:257220 |
Trisomy 8P |
|
Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Low posterior hairline |
ORPHA:264450 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Argininemia |
|
Hepatomegaly, Micronodular cirrhosis, Cholestasis, Portal fibrosis, Spastic gait |
OMIM:207800 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Small for gestational age, Dysmetria, Gait ataxia, Dysdiadochokinesis, Recurre... |
OMIM:606721 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Cholestasis,... |
ORPHA:247598 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Ataxia, Peritonitis, Arthritis, Recurrent aphthous stomatitis |
ORPHA:343 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Splenomegaly, Bronchiectasis, Uveitis |
OMIM:612387 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Increased bone mineral density, Reduced bone mineral density, Choreoatheto... |
ORPHA:79443 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Gait a... |
ORPHA:33364 |
Gaucher Disease |
|
Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Splenomegaly,... |
ORPHA:355 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Failure to thrive, Small for gestational age, Slender build, Porta... |
OMIM:613658 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Myocarditis, Septic arthritis, Pancreatitis, Acute colitis |
ORPHA:544482 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Curly hair, Brittle hair, Failure to thrive, Small for gestational age, Splenomegal... |
OMIM:222470 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis |
OMIM:259720 |
Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis |
ORPHA:35107 |
Poems Syndrome |
|
Sclerosis of hand bone, Pulmonary arterial hypertension, Sclerosis of skull base, Sclerosis of fo... |
ORPHA:2905 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int... |
ORPHA:100085 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Lethargy |
OMIM:229700 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Osteomyelitis, Skin rash, Failure to thrive in infancy, Pustule, Splenomegaly, Stom... |
OMIM:612852 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations |
OMIM:188580 |
Lathosterolosis |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Bilobate gallbladder, Hepatosplenomegaly |
OMIM:607330 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Recurrent skin infections, Herpes simplex encephalitis, Arteritis, Recurrent aphtho... |
OMIM:233600 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Myositis, Panniculitis |
OMIM:619183 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Sparse scalp hair, Anhidrosis, Splenomegaly, Hypohidrosis, Aplasia of the sweat gla... |
OMIM:612132 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest... |
ORPHA:26793 |
Primary Hyperoxaluria |
|
Recurrent fractures, Heart block, Generalized osteosclerosis, Raynaud phenomenon, Arterial occlus... |
ORPHA:416 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Fever, Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma ... |
ORPHA:542323 |
Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Splenomegaly, Otitis media, Inflammatory abnormal... |
ORPHA:379 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Failure to thrive, Ataxia, Lethargy |
OMIM:275350 |
Familial Hypocalciuric Hypercalcemia |
|
Pancreatitis |
ORPHA:405 |
Vacterl/Vater Association |
|
Cryptorchidism, Abnormality of the gallbladder, Abnormality of the pancreas |
ORPHA:887 |
Arima Syndrome |
|
Hepatomegaly, Ataxia, Hepatic fibrosis, Cirrhosis, Hepatic steatosis |
OMIM:243910 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... |
ORPHA:2658 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Hepatomegaly, Jaundice, Prolonged neonatal jaundice |
OMIM:185000 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Failure to thrive, Cho... |
OMIM:301068 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Hypopigmentation of hair, Recurrent bacterial skin infections, Ataxia, Splenomegaly... |
OMIM:214500 |
Steinfeld Syndrome |
|
Absent gallbladder |
OMIM:184705 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab... |
ORPHA:90652 |
Syndromic Diarrhea |
|
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Gastritis, Small for gestational age, Splen... |
ORPHA:84064 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Scorpion Envenomation |
|
Acute pancreatitis, Ataxia, Elevated circulating aspartate aminotransferase concentration, Myocar... |
ORPHA:466677 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Nodular regenerative hype... |
ORPHA:404454 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism |
OMIM:300712 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:616689 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... |
ORPHA:731 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97282 |
Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Ataxia, Gait disturbance, Decreased liver function, Adrenal insufficiency |
OMIM:614863 |
Yellow Fever |
|
Acute pancreatitis, Skin rash, Elevated circulating aspartate aminotransferase concentration, Pan... |
ORPHA:99829 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Bradycardia |
OMIM:218700 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Ectopic ossification, Increased bone mineral density |
ORPHA:79444 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Low posterior hairline |
OMIM:617925 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Bronchiectasis, Cholestasis, Recurrent otitis media, Lethargy, Failure to thrive |
OMIM:620233 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia |
ORPHA:226307 |
Zttk Syndrome |
|
Absent gallbladder, Curly hair, Sparse eyebrow, Failure to thrive, Broad eyebrow |
OMIM:617140 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi... |
ORPHA:64 |
12Q14 Microdeletion Syndrome |
|
Osteopoikilosis |
ORPHA:94063 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233710 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Skin rash, Stomatitis, Elevated circulating growth hormon... |
ORPHA:97280 |
Trisomy 10P |
|
Absent gallbladder, Small for gestational age |
ORPHA:171929 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Failure to thrive, Lethargy |
OMIM:251110 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair, Hepatic steatosis |
OMIM:619934 |
Raine Syndrome |
|
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation |
OMIM:259775 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Failure to thrive, Pancreatic hypoplasia, Biliary atresia |
OMIM:600001 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge... |
OMIM:557000 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233690 |
Occipital Horn Syndrome |
|
Hiatus hernia, High, narrow palate, Jaundice, Hepatitis, Cholestasis, Esophagitis |
ORPHA:198 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Thick eyebrow, Broad-based gait, Ataxia, Osteomyelitis, Overweight... |
OMIM:619475 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Abdominal obesity, Hypoplasia of the ovary, Hepatic steatosis, Decreased testicular size |
OMIM:619321 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism |
ORPHA:163979 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Splenomega... |
OMIM:276700 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, Hashimoto thyroiditis, Inc... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, Hashimoto thyroiditis, Inc... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, Hashimoto thyroiditis, Inc... |
ORPHA:99226 |
Turner Syndrome |
|
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, Hashimoto thyroiditis, Inc... |
ORPHA:881 |
Ring Chromosome 13 Syndrome |
|
Alopecia, Hypoplasia of the gallbladder, Primary hypothyroidism |
ORPHA:96176 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Telangiectasia of the skin, Congestive he... |
ORPHA:79474 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age |
OMIM:616026 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Splenomegaly, Hepatomegaly, Small for gestational age, Prolonged neonatal jaundice |
OMIM:224120 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Abnormality of the spleen, Cryptorchidism, Hypothyroidism, Obesity, ... |
ORPHA:1606 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Fetal ascites, Synophrys, Chronic otitis m... |
OMIM:619503 |
Brucellosis |
|
Liver abscess, Knee osteoarthritis, Hyperhidrosis, Abnormality of the liver, Infectious encephali... |
ORPHA:1304 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones |
OMIM:127000 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Episodic hyperhidrosis, Jaundice, Lethargy, Chronic hepatic failure |
ORPHA:469 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Seborrheic dermatitis, Large for gestational age, Microvesicular hepatic steatosis,... |
OMIM:300868 |
Wolf-Hirschhorn Syndrome |
|
Ataxia, Highly arched eyebrow, Cryptorchidism, Abnormality of the gallbladder, Low posterior hair... |
ORPHA:280 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney |
OMIM:200995 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder |
ORPHA:3186 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... |
OMIM:208500 |
Gaisböck Syndrome |
|
Overweight, Splenomegaly, Obesity, Gout, Cholecystitis |
ORPHA:90041 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Ataxia, Splenomegaly, Hypohi... |
ORPHA:163746 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia, Joint hypermobility |
OMIM:614437 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary ci... |
OMIM:613471 |
Desmosterolosis |
|
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita |
OMIM:602398 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Skin rash, Hyperhidrosis |
ORPHA:53715 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation |
OMIM:611134 |
Tetrasomy 9P |
|
Absent gallbladder, Myositis, Pericarditis, Cryptorchidism, Jaundice, Biliary atresia, Arthritis |
ORPHA:3310 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Osteoporosis, Bradycardia |
ORPHA:79404 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sparse eyebrow, Macrovesicular hepatic steatosis, Na... |
OMIM:619127 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Eczema, Splenomegaly, Cryptorchidism, Cholestatic liver disease, Cirrhosis, Recurre... |
OMIM:270400 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Sparse eyelashes, Cholangitis, Sparse eyebrow, Splen... |
OMIM:613610 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Small for gestational age, Highly arched eyebrow, Microvesicular hepatic steatosis, Low a... |
OMIM:220111 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:306400 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
Ogden Syndrome |
|
Eczema, Cardiomegaly, Sparse eyebrow, Cryptorchidism, Jaundice, Microvesicular hepatic steatosis,... |
OMIM:300855 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Curly hair, Failure to thrive in infancy, Sparse eyebrow, Broad lateral eyebrow |
ORPHA:500150 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Hyperthyroidism, Ataxia, Decreased response to growth hormone stimulation test... |
ORPHA:3455 |
3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia |
OMIM:617248 |
Peters-Plus Syndrome |
|
Bilobate gallbladder, Cryptorchidism, Biliary tract abnormality, Decreased body weight, Facial hy... |
OMIM:261540 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Difficulty walking, Sinus bradycardia |
OMIM:619482 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Pulmonary art... |
ORPHA:667 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal eyelash morphology, Cryptorchidism, Hypopigmentation of hair, Abnormality of the gallbla... |
ORPHA:818 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Recurrent fractures, Pulmonary arterial hypertension |
ORPHA:2785 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones |
OMIM:269150 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, P... |
OMIM:619534 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Cryptorchidism, Splenomegal... |
OMIM:249000 |
Homozygous Familial Hypercholesterolemia |
|
Hepatic steatosis |
ORPHA:391665 |