Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Cirrhosis, Familial |
|
Cirrhosis, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Budd-Chiari Syndrome |
|
Cirrhosis, Hepatocellular carcinoma |
OMIM:600880 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Ele... |
OMIM:617156 |
Halothane Hepatitis |
|
Obesity, Hepatitis, Viral hepatitis, Jaundice |
OMIM:234350 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated circulating aspar... |
OMIM:619658 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hep... |
ORPHA:79301 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Elevated circulating aspa... |
OMIM:269600 |
Porphyria Cutanea Tarda, Type I |
|
Eczema, Hepatic fibrosis |
OMIM:176090 |
Hemochromatosis Type 4 |
|
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis |
ORPHA:139491 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased hepatic glycogen content, Large for gestational age, Truncal obesity |
ORPHA:293964 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... |
OMIM:613812 |
Splenoportal Vascular Anomalies |
|
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Splenomegaly |
OMIM:271500 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Hepatic steatosis |
OMIM:615595 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, E... |
OMIM:214900 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... |
ORPHA:90003 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis |
ORPHA:209919 |
Cholestasis, Progressive Familial Intrahepatic, 4 |
|
Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Portal hypertension |
OMIM:615878 |
Cyanosis And Hepatic Disease |
|
Hepatitis |
OMIM:219400 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis |
OMIM:613313 |
Porphyria Cutanea Tarda |
|
Cirrhosis, Hepatocellular carcinoma |
OMIM:176100 |
Fadd-Related Immunodeficiency |
|
Decreased liver function, Hepatic fibrosis |
ORPHA:306550 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular ca... |
ORPHA:369 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... |
ORPHA:65682 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Cholestasis, Hepatic fibrosis, Prolonged neo... |
OMIM:231100 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure |
OMIM:616719 |
Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... |
OMIM:600803 |
Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... |
OMIM:301045 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Hepatic fibrosis, Por... |
OMIM:616278 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Bronchiectasis |
OMIM:613490 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Hepatomegaly, Jaundice, Hepatic failure |
ORPHA:60 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... |
OMIM:613759 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Cirrhosis, Portal hypertension, Hepatic failure |
OMIM:210050 |
Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic b... |
OMIM:619902 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... |
OMIM:616828 |
Immunodeficiency 56 |
|
Failure to thrive, Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis... |
OMIM:615207 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Arthritis, Eleva... |
ORPHA:905 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... |
OMIM:210500 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... |
OMIM:601847 |
Retinitis Pigmentosa 89 |
|
Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis, Intrahepatic bile duct dilatation |
OMIM:618955 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Elevated circul... |
OMIM:619662 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Congenital hepatic fibrosis |
ORPHA:446 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hepatocellular carcinoma, Elevated gamma-glutamyltransferase level, Elevated circul... |
OMIM:603471 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, ... |
OMIM:607765 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice |
ORPHA:75234 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Hepatic steatosis, Elevated circulating alkaline phosphatase concentrat... |
OMIM:616829 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis, Hepatospleno... |
ORPHA:79302 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, A... |
OMIM:278000 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transami... |
OMIM:214950 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Eczema, Cirrhosis |
ORPHA:79278 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:617093 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Failure to thrive, Elevated circulating alkaline phosphatase concentration, Periportal fibrosis, ... |
OMIM:619484 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... |
OMIM:613489 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Microvesicu... |
OMIM:256810 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Osteoarthritis, Hepatic steatosis, Hepatomegaly |
OMIM:606069 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... |
OMIM:241520 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatic steatosis, Hepatomegaly, Hepatic failure |
OMIM:617872 |
Autoinflammatory-Pancytopenia Syndrome |
|
Failure to thrive, Cholestatic liver disease, Intestinal inflammation, Hepatosplenomegaly, Membra... |
OMIM:619858 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Cirrhosis, Failure to thrive, Intrahepatic cholestasis |
OMIM:605814 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Cirrhosis, Leukemia, Myeloid leukemia |
OMIM:614743 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormality, Portal hypert... |
ORPHA:1414 |
Senior-Loken Syndrome 9 |
|
Obesity, Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis |
OMIM:616629 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis |
OMIM:601466 |
Gracile Syndrome |
|
Cirrhosis, Elevated hepatic iron concentration, Hepatic steatosis, Cholestasis |
ORPHA:53693 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Complement Component 4B Deficiency |
|
Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia, Recurrent otitis media |
OMIM:614379 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... |
ORPHA:567983 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Hepatic fibrosis, Portal fibrosis, Congenital hepatic fibrosis |
OMIM:619111 |
Interstitial Lung Disease 2 |
|
Cirrhosis, Alveolar cell carcinoma |
OMIM:178500 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Hepatosplenomegaly, Hepatic fibrosis, Acute hepatic failure |
ORPHA:466794 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis |
ORPHA:33402 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Arthritis, Hepatomegaly, Splenomegaly |
OMIM:602390 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Elevate... |
ORPHA:131 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic ... |
OMIM:211600 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... |
ORPHA:209902 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... |
OMIM:613027 |
Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, Chronic hepatitis |
OMIM:614602 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Recurrent otitis media, Splenomegaly |
ORPHA:444463 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly |
OMIM:232400 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Hepatomegaly, Folliculitis, Splenomegaly, Recurrent skin infections, Inflammation of the... |
OMIM:300635 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Morbid Obesity And Spermatogenic Failure |
|
Obesity, Hepatic steatosis |
OMIM:615703 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Elevated hepatic transaminase, Elevate... |
OMIM:616860 |
Mpi-Cdg |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hep... |
ORPHA:79319 |
Galactosemia I |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Cirrhosis, Elevated circulating aspart... |
OMIM:230400 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Isolated Biliary Atresia |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Periportal fibrosis, Elevated circulat... |
ORPHA:30391 |
Chylomicron Retention Disease |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Hemochromatosis, Type 3 |
|
Cirrhosis, Arthritis, Elevated hepatic transaminase |
OMIM:604250 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... |
ORPHA:53035 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:600351 |
Glycogen Storage Disease Iv |
|
Failure to thrive, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Portal hypertension |
OMIM:232500 |
Cirrhosis, Familial |
|
Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Jaundice, Biliary cirrhosis |
OMIM:215600 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Failure to thrive, Cholestasis, Elevated hepatic transaminase, Portal f... |
OMIM:614300 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:610717 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate |
OMIM:607361 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase co... |
OMIM:617049 |
Adrenomyodystrophy |
|
Pituitary corticotropic cell adenoma, Hepatic steatosis |
OMIM:300270 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:619048 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Hepatomegaly |
ORPHA:2432 |
Bile Acid Malabsorption, Primary, 2 |
|
Periportal fibrosis, Elevated circulating aspartate aminotransferase concentration, Elevated gamm... |
OMIM:619481 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Isolated Osteopoikilosis |
|
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... |
ORPHA:166119 |
Transaldolase Deficiency |
|
Cirrhosis, Hepatosplenomegaly |
ORPHA:101028 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... |
OMIM:618641 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatic fibrosis |
OMIM:602579 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cholestasis, Hepatic fibrosis, Obesity |
OMIM:615630 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Cog4-Cdg |
|
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Elevated ... |
ORPHA:263501 |
Laurence-Moon Syndrome |
|
Obesity, Congenital hepatic fibrosis |
ORPHA:2377 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Elevated hepatic transaminase, Congenital hepatic f... |
ORPHA:79230 |
Infantile Liver Failure Syndrome 1 |
|
Failure to thrive, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
Transaldolase Deficiency |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, ... |
OMIM:606003 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:79084 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:614582 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase ... |
ORPHA:79303 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:3156 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Cholelithiasis, Giant cell hepatitis, Jaundice |
OMIM:214980 |
Galactosemia |
|
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic failure, Cirrhosis, A... |
ORPHA:352 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Hashimoto thyr... |
OMIM:618549 |
Interstitial Lung And Liver Disease |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate amino... |
OMIM:615486 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic ... |
OMIM:618805 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hepatic steatosis |
ORPHA:26792 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Sc... |
ORPHA:562639 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Hepa... |
ORPHA:370 |
Joubert Syndrome 9 |
|
Hepatic fibrosis |
OMIM:612285 |
Hypermanganesemia With Dystonia 1 |
|
Cirrhosis, Hepatomegaly, Decreased liver function, Elevated hepatic transaminase |
OMIM:613280 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Increased body weight, Hepatomegaly, Jaundice |
ORPHA:890 |
Nephronophthisis 15 |
|
Obesity, Hepatic failure |
OMIM:614845 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cirrhosis, Hepatic steatosis, Hepatomegaly |
ORPHA:363400 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Cholestasis |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Cholestasis |
ORPHA:71526 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Portal hypertension, Splenomegaly |
OMIM:616589 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypoalbuminemia |
ORPHA:398063 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatosple... |
ORPHA:367 |
Immunodeficiency 61 |
|
Arthritis, Recurrent sinusitis, Colon cancer, Recurrent otitis media, Obesity |
OMIM:300310 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypocholesterolemia |
OMIM:610539 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Macronodular cirrhosis, Small for gestational age |
OMIM:215250 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Flynn-Aird Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... |
OMIM:136300 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Incr... |
ORPHA:264580 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Viral hepatitis, Periportal fibrosis, Abnormal enzyme/coenzy... |
ORPHA:101330 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... |
ORPHA:2790 |
Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Cholestasis |
OMIM:609734 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Failure to thrive, Cirrhosis, Elevated gamma-glutamyltransferase level, Elevated hepatic transami... |
OMIM:242150 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Cirrhosis, Myelodysplasia, Myeloid leukemia |
OMIM:614742 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... |
OMIM:267700 |
Nephronophthisis 16 |
|
Periportal fibrosis, Cholestasis |
OMIM:615382 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis |
ORPHA:79087 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Cholestasis |
OMIM:615415 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Gout, Osteoporosis, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610947 |
Primary Biliary Cholangitis |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis, Hepatocellul... |
ORPHA:186 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Keratoconjunctivitis, H... |
OMIM:269200 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
Autosomal Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis... |
ORPHA:33110 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Cachexia, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Weight loss |
ORPHA:298 |
Medullary Thyroid Carcinoma |
|
Medullary thyroid carcinoma, Pheochromocytoma, Neoplasm of the lung, Weight loss, Neoplasm of the... |
ORPHA:1332 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase |
OMIM:235200 |
Mueller-Weiss Syndrome |
|
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... |
ORPHA:566943 |
Immunodeficiency 47 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Acce... |
OMIM:300972 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Weight loss, Obesity, Barrett esophagus |
ORPHA:70482 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated circulating aspartate aminotransferase concentration, Failure to thrive in infancy, Elev... |
OMIM:611182 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Cirrhosis, Arthritis, Infectious encephalitis, Keratoconjunctivitis sicc... |
ORPHA:779 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Caroli Syndrome |
|
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concent... |
ORPHA:480520 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Flexion contracture, Hypoproteinemia |
OMIM:608093 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:612526 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
ORPHA:369840 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Hepatomegaly, Chronic oral candidiasis, Splenomegaly, Cirrhosis, Chronic hepat... |
OMIM:308230 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Hepatomegaly, Proportionate tall stature, Cirrhosis, Hepatic steatosis |
ORPHA:528 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... |
OMIM:208540 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... |
ORPHA:171 |
Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Hepatic steatosis |
OMIM:604367 |
Adenocarcinoma Of The Esophagus |
|
Obesity, Esophageal carcinoma, Barrett esophagus |
ORPHA:99976 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... |
OMIM:614576 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis |
OMIM:613987 |
Sclerosteosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis |
ORPHA:3152 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hepatic steatosis |
OMIM:615980 |
Melorheostosis |
|
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Otitis media, Hepatosplenomegaly, Hepatitis, Recurrent pneumonia, Pneum... |
ORPHA:169160 |
Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis |
OMIM:614924 |
Macrocephaly/Autism Syndrome |
|
Obesity, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Truncal obesity |
OMIM:618160 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Hepatocellular carcinom... |
ORPHA:79240 |
Coach Syndrome 1 |
|
Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrhosis, Elevated hepatic transa... |
OMIM:216360 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Microvesicular hepatic steatosis, Cholestasis, Hepatic fibrosis, Prolonged neo... |
OMIM:619377 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Thyroiditis, Acute hepatic failure, Cirrhosis, Hepatosplenomegaly, Hepatitis, Portal hypertension... |
ORPHA:228426 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619386 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Elevated hepatic transaminase, Decreased carnitine level in live... |
OMIM:212140 |
Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Osteomyelitis, Neoplasm, Skin rash, Chronic otitis media, Arthritis... |
ORPHA:47 |
Bardet-Biedl Syndrome |
|
Obesity, Hepatic fibrosis |
ORPHA:110 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Peroxisome Biogenesis Disorder 1B |
|
Cirrhosis, Hepatic fibrosis, Hepatomegaly |
OMIM:601539 |
Primary Lipodystrophy |
|
Cirrhosis, Hepatic steatosis, Pancreatitis, Splenomegaly |
ORPHA:90970 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis |
OMIM:613877 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... |
ORPHA:541423 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Hepatomegaly, Splenomegaly |
ORPHA:848 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Obesity, Abnormal enzyme/coenzyme activity |
ORPHA:171706 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis |
ORPHA:300536 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Senior-Boichis Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Reduced n... |
ORPHA:84081 |
Adrenomyodystrophy |
|
Failure to thrive, Hepatic steatosis |
ORPHA:977 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Arthritis, C... |
ORPHA:465508 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... |
ORPHA:26793 |
Bardet-Biedl Syndrome 21 |
|
Obesity, Elevated hepatic transaminase, Overweight |
OMIM:617406 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased liver function, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomega... |
ORPHA:231222 |
Bare Lymphocyte Syndrome, Type Ii |
|
Failure to thrive, Colitis, Viral hepatitis, Biliary tract abnormality, Chronic mucocutaneous can... |
OMIM:209920 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Increased circulat... |
OMIM:600649 |
Dpm1-Cdg |
|
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Hepatic fibro... |
ORPHA:79322 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis |
ORPHA:79083 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Pustule, Skin rash, Acute hepatic failure, Interstitial pneumonitis, Myocarditis, Elevated hepati... |
ORPHA:139402 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Cirrhosis, Lymphoma, Acute pancreatitis, Hepatic steatosis, Astrocytoma, Panniculitis |
ORPHA:79086 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Osteoporosis, Steatorrhea |
OMIM:266510 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Cirrhosis, Hepatic fibrosis, Cholestasis |
OMIM:609313 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Necrotizing enterocolitis, Hepatic st... |
OMIM:201475 |
Adult-Onset Still Disease |
|
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Arthritis, Elevated hepatic transaminase, Hep... |
ORPHA:829 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatitis, Jaundice |
OMIM:194380 |
Macrosomia Adiposa Congenita |
|
Adrenocortical adenoma, Obesity, Large for gestational age |
OMIM:248100 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Failure to thrive, Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Elevated hepati... |
OMIM:613404 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic necrosis, Hepatic steatosis, Fulminant h... |
OMIM:231530 |
Macrophage Activation Syndrome |
|
Decreased liver function, Hepatomegaly, Splenomegaly, Juvenile rheumatoid arthritis, Elevated cir... |
ORPHA:158061 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... |
OMIM:603553 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Failure to thrive, Hepatic steatosis, Abnormal enzyme/coenzyme activity |
ORPHA:70472 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
Melioidosis |
|
Splenic abscess, Prostatitis, Osteoarthritis, Abnormality of the spleen, Parotitis, Acute infecti... |
ORPHA:31202 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis |
OMIM:122860 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Decreased liver function, Acute hepatitis, Hepatomegaly |
OMIM:238970 |
Lichen Planopilaris |
|
Neoplasm of the oral cavity, Hepatitis |
ORPHA:525 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepati... |
OMIM:203700 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatic steatosis, Hepatomegaly |
OMIM:615238 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Nephronophthisis 3 |
|
Hepatic fibrosis |
OMIM:604387 |
Dominant Beta-Thalassemia |
|
Splenomegaly, Cirrhosis, Chronic hepatitis, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatic... |
ORPHA:231226 |
Intermediate Osteopetrosis |
|
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... |
ORPHA:210110 |
Meckel Syndrome, Type 6 |
|
Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Cystic liver disease |
OMIM:612284 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... |
OMIM:619418 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Chilblains, Acute pancreatitis, Elevated hep... |
OMIM:619487 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hepat... |
OMIM:261680 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Eczema, Lymphadenitis, Cholestasis, Inflammation o... |
OMIM:615895 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... |
OMIM:610199 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:201450 |
Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2204 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Donohue Syndrome |
|
Pancreatic islet-cell hyperplasia, Severe failure to thrive, Hepatic fibrosis, Cholestasis |
OMIM:246200 |
Joubert Syndrome With Hepatic Defect |
|
Neoplasm of the liver, Hepatomegaly, Splenomegaly, Intrahepatic biliary atresia, Cirrhosis, Conge... |
ORPHA:1454 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis, Increased hepatocellular lip... |
ORPHA:71 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic cysts, Portal hypertension, Pancreatic c... |
OMIM:263200 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Keratoconjunctivitis sicca, Abnormality o... |
ORPHA:91138 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity, Eczema |
ORPHA:3055 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:255120 |
Citrullinemia, Classic |
|
Cirrhosis, Failure to thrive, Hepatomegaly |
OMIM:215700 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity |
ORPHA:85274 |
Central Precocious Puberty |
|
Hypothalamic hamartoma, Overgrowth, Acne, Increased body weight, Obesity |
ORPHA:759 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... |
OMIM:614921 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia |
ORPHA:90362 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Mental Retardation, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Abnormal enzyme/coenzyme activit... |
ORPHA:79095 |
Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Hepatomegaly |
OMIM:275630 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Cachexia, Elevated hepatic transaminase, Hepatic steatosi... |
ORPHA:42 |
Adams-Oliver Syndrome |
|
Cirrhosis, Failure to thrive, Portal hypertension, Congenital hepatic fibrosis |
ORPHA:974 |
Graft Versus Host Disease |
|
Failure to thrive, Inflammatory abnormality of the skin, Elevated circulating alkaline phosphatas... |
ORPHA:39812 |
Hyperostosis Frontalis Interna |
|
Obesity, Elevated circulating alkaline phosphatase concentration |
OMIM:144800 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis |
OMIM:619013 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Bardet-Biedl Syndrome 16 |
|
Obesity, Recurrent otitis media |
OMIM:615993 |
Immune Deficiency Disease |
|
Fulminant hepatitis, Cholangitis |
OMIM:242850 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
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Failure to thrive, Cholestatic liver disease, Giant cell hepatitis, Intrahepatic biliary atresia,... |
OMIM:208085 |
Ankylosing Vertebral Hyperostosis With Tylosis |
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Obesity, Osteoarthritis |
ORPHA:2206 |
Liver Failure, Infantile, Transient |
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Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Macrovesicular hepatic ste... |
OMIM:613070 |
Squalene Synthase Deficiency |
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Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
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Failure to thrive, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis |
OMIM:616263 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
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Obesity |
OMIM:264010 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Failure to thrive, Eczema, Glomerulonephritis, Arthritis, Hepatitis, Erythroderma |
OMIM:304790 |
Beta-Thalassemia Major |
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Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Hepatic fibr... |
ORPHA:231214 |
Distal Osteosclerosis |
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Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
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Failure to thrive, Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membra... |
OMIM:618999 |
Griscelli Syndrome |
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Hepatitis, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:381 |
Gaucher Disease Type 1 |
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Hepatomegaly, Splenomegaly, Cirrhosis, Osteoarthritis, Biliary tract obstruction, Hypersplenism |
ORPHA:77259 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
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Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Reduced carnitine O-palmitoyltransf... |
ORPHA:228305 |
Nephronophthisis 11 |
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Hepatic fibrosis |
OMIM:613550 |
Hypercholesterolemia, Familial, 4 |
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Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Adiposis Dolorosa |
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Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Subaortic Stenosis-Short Stature Syndrome |
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Acne, Obesity, Biliary tract abnormality |
ORPHA:3191 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Cirrhosis, Interstitial pneumonitis, Squamous cell carcinoma of the skin, Myelodysplasia |
OMIM:127550 |
Joubert Syndrome 8 |
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Obesity, Hepatomegaly, Prolonged neonatal jaundice |
OMIM:612291 |
Akt2-Related Familial Partial Lipodystrophy |
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Hepatic steatosis, Hepatomegaly |
ORPHA:79085 |
Johanson-Blizzard Syndrome |
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Hypoproteinemia |
ORPHA:2315 |
Q Fever |
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Osteomyelitis, Hepatomegaly, Splenomegaly, Maculopapular exanthema, Hepatosplenomegaly, Endocardi... |
ORPHA:781 |
Argininemia |
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Portal fibrosis, Hepatomegaly, Micronodular cirrhosis, Cholestasis |
OMIM:207800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Failure to thrive, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets |
OMIM:220111 |
Argininosuccinic Aciduria |
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Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic fibrosi... |
OMIM:207900 |
Hardikar Syndrome |
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Decreased liver function, Failure to thrive, Hepatomegaly, Intrahepatic bile duct cysts, Intrahep... |
OMIM:301068 |
Combined Oxidative Phosphorylation Deficiency 15 |
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Obesity |
OMIM:614947 |
Neutral Lipid Storage Disease With Ichthyosis |
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Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Micronodular cirrhosis |
ORPHA:98907 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
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Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:615381 |
Osteosclerotic Metaphyseal Dysplasia |
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Clavicular sclerosis |
OMIM:615198 |
Hernández-Aguirre Negrete Syndrome |
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Obesity |
ORPHA:2139 |
Cidec-Related Familial Partial Lipodystrophy |
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Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:435651 |
Farber Disease |
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Failure to thrive, Abnormal enzyme/coenzyme activity, Hepatic failure, Hepatosplenomegaly, Arthri... |
ORPHA:333 |
Wilson Disease |
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Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Acute hepatic failure, Hepatocellular car... |
OMIM:277900 |
Syndromic Diarrhea |
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Colitis, Hepatomegaly, Hepatoblastoma, Gastritis, Splenomegaly, Small for gestational age, Cirrho... |
ORPHA:84064 |
Trichohepatoenteric Syndrome 1 |
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Failure to thrive, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Small for gestational ... |
OMIM:222470 |
Familial Chylomicronemia Syndrome |
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Failure to thrive, Decreased body weight, Jaundice, Hepatosplenomegaly, Acute pancreatitis, Peria... |
ORPHA:444490 |
Hereditary Hemorrhagic Telangiectasia |
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Cholelithiasis, Hepatic failure, Cirrhosis, Cholecystitis, Intestinal polyposis, Portal hypertens... |
ORPHA:774 |
Lysosomal Acid Lipase Deficiency |
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Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Elevated circulati... |
ORPHA:275761 |
Autosomal Recessive Polycystic Kidney Disease |
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Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Hepatosplenomegaly, Choles... |
ORPHA:731 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Elevated hepatic transaminase, Micronodular cirrhosis |
OMIM:192315 |
Isolated Sedoheptulokinase Deficiency |
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Hepatitis, Cholestatic liver disease, Portal hypertension, Cholestasis |
ORPHA:440713 |
Cystic Fibrosis |
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Failure to thrive, Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Cirrhosis, Hepa... |
OMIM:219700 |
Pseudohypoparathyroidism Type 1B |
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Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemic tetany, Hyperpho... |
ORPHA:94089 |
Osteopetrosis, Autosomal Recessive 1 |
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Osteomyelitis, Hypocalcemia, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Pat... |
OMIM:259700 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
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Truncal obesity |
OMIM:300471 |
Osteogenesis Imperfecta, Type Xiii |
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Osteoporosis, Increased bone mineral density, Joint hypermobility |
OMIM:614856 |
Albers-Schönberg Osteopetrosis |
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Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Osteoarthritis, Arthr... |
ORPHA:53 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
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Truncal obesity |
ORPHA:140941 |
Cirrhotic Cardiomyopathy |
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Cirrhosis, Hepatomegaly, Jaundice |
ORPHA:57777 |
Alstrom Syndrome |
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Chronic active hepatitis, Hepatomegaly, Nephritis, Otitis media, Truncal obesity, Elevated hepati... |
OMIM:203800 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
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Hepatomegaly, Splenomegaly, Hepatitis, Hashimoto thyroiditis, Portal hypertension, Failure to thr... |
OMIM:613385 |
Aspergillosis |
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Keratitis, Sinusitis, Osteomyelitis, Hematological neoplasm, Hepatitis, Infectious encephalitis, ... |
ORPHA:1163 |
Congenital Enterovirus Infection |
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Skin rash, Hepatic failure, Myocarditis, Cholestasis, Hepatitis, Infectious encephalitis |
ORPHA:292 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
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Failure to thrive, Hepatic fibrosis |
OMIM:613989 |
Chondrodysplasia, Blomstrand Type |
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Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
11P15.4 Microduplication Syndrome |
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Obesity |
ORPHA:300305 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
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Obesity, Failure to thrive in infancy |
OMIM:613670 |
Legionnaires Disease |
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Pancreatitis, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Infectious encephalitis, Perica... |
ORPHA:549 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
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Failure to thrive, Pancreatitis, Tall stature, Disproportionate tall stature, Hepatic steatosis |
OMIM:236200 |
Tyrosinemia, Type I |
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Failure to thrive, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failure,... |
OMIM:276700 |
Gillessen-Kaesbach-Nishimura Syndrome |
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Periportal fibrosis |
OMIM:263210 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
Dysbetalipoproteinemia |
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Hepatomegaly, Gout, Acute pancreatitis, Obesity, Hepatic steatosis |
ORPHA:412 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Hepatomegaly, Tall stature, Splenomegaly, Cirrhosis, Acute pancreatitis, Elevated hepatic transam... |
OMIM:608594 |
3-Methylglutaconic Aciduria, Type V |
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Microvesicular hepatic steatosis |
OMIM:610198 |
Buschke-Ollendorff Syndrome |
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Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... |
ORPHA:1306 |
Acrocephalopolydactylous Dysplasia |
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Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Hepatomegaly |
OMIM:200995 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Chronic gastritis, Recurrent otitis media, Viral hepatitis, Skin rash, Rheumatoid arthritis, Atop... |
ORPHA:183675 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Obesity, Colitis |
ORPHA:88643 |
Fructose Intolerance, Hereditary |
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Failure to thrive, Hepatomegaly, Jaundice, Cirrhosis, Elevated hepatic transaminase, Hepatic stea... |
OMIM:229600 |
Combined Oxidative Phosphorylation Deficiency 11 |
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Decreased liver function, Hepatic steatosis, Hepatomegaly |
OMIM:614922 |
Congenital Disorder Of Glycosylation, Type Ia |
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Failure to thrive, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Pericarditis, H... |
OMIM:212065 |
Cortisone Reductase Deficiency 2 |
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Obesity |
OMIM:614662 |
Bardet-Biedl Syndrome 1 |
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Abdominal obesity, Truncal obesity, Biliary tract abnormality, Hepatic fibrosis, Obesity |
OMIM:209900 |
Microsporidiosis |
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Keratitis, Pancreatitis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneumonia, Weight... |
ORPHA:2552 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Recurrent fractures, Increased bone mineral density, Hydroxyprolinemia, Osteopenia, Ankylosis, Os... |
OMIM:239000 |
Cortisone Reductase Deficiency 1 |
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Obesity, Acne |
OMIM:604931 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
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Hepatic fibrosis |
OMIM:224230 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
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Obesity |
OMIM:616756 |
Acyl-Coa Dehydrogenase 9 Deficiency |
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Failure to thrive, Acute hepatic failure, Increased circulating lactate dehydrogenase concentrati... |
ORPHA:99901 |
Xq27.3Q28 Duplication Syndrome |
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Failure to thrive, Truncal obesity |
ORPHA:261483 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Congenital hepatic fibrosis |
ORPHA:2031 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |