Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Splenomegaly, Iron deficiency anemia, Elevated... |
OMIM:616278 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein... |
OMIM:619662 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transaminase, Increased total bilir... |
OMIM:210500 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Conjugated... |
OMIM:605479 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... |
OMIM:620010 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, D... |
OMIM:601847 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Diarrhea, Malformation of the hepat... |
OMIM:619849 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... |
OMIM:605814 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Elevated hepatic transaminase, Intrahepatic chol... |
OMIM:602347 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619868 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Hepati... |
OMIM:235555 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Hepatic failure, Splenomegal... |
OMIM:607765 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Epistaxis, Diarrhea, Conjugated hyperbilir... |
OMIM:211600 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... |
OMIM:618963 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormality of the lymph... |
ORPHA:1414 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Increased erythrocyte protoporphyrin concentration, Iron deficiency anemia, Eleva... |
OMIM:300752 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... |
ORPHA:53035 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated circulating alkaline phosphatase concentration, Periportal fibrosis, Elevated gamma-glut... |
OMIM:619484 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Elevated hepatic transam... |
OMIM:214950 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Hepatic failure, Cir... |
ORPHA:79302 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... |
OMIM:616828 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... |
OMIM:214900 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Increased serum bile acid concentration during pregnancy, Elevated hepatic transaminase, Intrahep... |
OMIM:147480 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal... |
ORPHA:79234 |
Cholestasis, Intrahepatic, Of Pregnancy 3 |
|
Increased serum bile acid concentration during pregnancy, Intrahepatic cholestasis, Abnormal live... |
OMIM:614972 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... |
OMIM:619658 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Pancreatitis, Hepatomegaly, Intermittent jaundice, Conjugated hyperbilirubinemia, Increased serum... |
OMIM:243300 |
Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... |
OMIM:600803 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... |
OMIM:613812 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... |
OMIM:613313 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... |
OMIM:617156 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis, Eczema, Abnormal circulating porphyrin conce... |
ORPHA:79278 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Elev... |
ORPHA:567983 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... |
OMIM:237800 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Abnormal ... |
OMIM:231100 |
Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous... |
OMIM:271500 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Steatorrhea, Hepatic failure, Diarrhea, Elevated circulating aspartate aminotransfe... |
OMIM:278000 |
Caroli Syndrome |
|
Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Elevated circulating alkaline phosphatase... |
ORPHA:480520 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... |
ORPHA:79301 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... |
OMIM:613027 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic ane... |
OMIM:235700 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubinemia, Hepatic failur... |
OMIM:251880 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P... |
ORPHA:64743 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Hemolytic anemia,... |
OMIM:232800 |
Cirrhosis, Familial |
|
Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Pulmonary arterial hypertension, Increase... |
OMIM:215600 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... |
ORPHA:65682 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reduced level of N-acetylglucosami... |
OMIM:224100 |
Cholestasis, Progressive Familial Intrahepatic, 4 |
|
Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Portal hypertension |
OMIM:615878 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia, Jaundice |
OMIM:129850 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... |
OMIM:616860 |
Alpha-1-Antitrypsin Deficiency |
|
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated he... |
OMIM:613490 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increased serum iron, ... |
ORPHA:446 |
Mpi-Cdg |
|
Decreased liver function, Hepatomegaly, Abnormal enzyme/coenzyme activity, Diarrhea, Vomiting, He... |
ORPHA:79319 |
Rotor Syndrome |
|
Abnormal enzyme/coenzyme activity, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Jaundice, I... |
ORPHA:3111 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Abnormality of the hepatic vasculature, Hepatosplen... |
ORPHA:210136 |
Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:171851 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Diarrhea, Hypertriglyceridemia, Hyperchol... |
ORPHA:75234 |
Fibrosclerosis, Multifocal |
|
Thyroiditis, Retroperitoneal fibrosis, Sclerosing cholangitis, Abnormality of the liver |
OMIM:228800 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi... |
OMIM:182900 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Enlarged kidney, Elevated hepatic transa... |
OMIM:619902 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Cholestasis, Jaundice |
ORPHA:172 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Prolonged neonatal jaun... |
OMIM:619256 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237450 |
Isolated Biliary Atresia |
|
Decreased liver function, Hepatomegaly, Periportal fibrosis, Elevated circulating alkaline phosph... |
ORPHA:30391 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia, Jaundice |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia, Jaundice |
OMIM:237900 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a... |
ORPHA:846 |
Malaria |
|
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Arrhythmia, ... |
OMIM:602390 |
Hemochromatosis Type 4 |
|
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... |
ORPHA:139491 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia |
OMIM:619073 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... |
ORPHA:369 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Cholestatic liver disease |
OMIM:602114 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Abn... |
ORPHA:848 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Eczema, Hemolytic anemia, Hypertriglyceridemia |
OMIM:177000 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased circulating ferritin concentration, Cholelithiasis, Hepatomegaly, Splenomegaly, Increas... |
OMIM:194380 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho... |
OMIM:603358 |
Primary Biliary Cholangitis |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Abnormal circulating li... |
ORPHA:186 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Crigler-Najjar Syndrome, Type I |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:218800 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, Increased total biliru... |
OMIM:618528 |
Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Biliary cirrhosis |
ORPHA:586 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Hyperbilirubi... |
ORPHA:562639 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ... |
OMIM:611881 |
Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate |
OMIM:607361 |
Immunodeficiency 56 |
|
Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis, Recurrent sinusit... |
OMIM:615207 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma, Neoplasm of the pancreas |
ORPHA:438274 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Ascites, Jaundice |
ORPHA:890 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... |
OMIM:614470 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Unconjugated hyperbilirubinemia, Hepatic failure |
OMIM:143500 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Osteoarthritis, Arrhythmia... |
OMIM:606069 |
Budd-Chiari Syndrome |
|
Cirrhosis, Hepatocellular carcinoma, Budd-Chiari syndrome |
OMIM:600880 |
Caroli Disease, Isolated |
|
Hepatomegaly, Vomiting, Cholangitis, Portal hypertension, Liver abscess |
OMIM:600643 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Elevated circulating C-reactive protein concentration, Sterile abscess, Hepatosplenomegaly, Throm... |
OMIM:604416 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Cholelithiasis, Anemia of inadequate production, In... |
ORPHA:3202 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Hyperbilirubinemia, Pulmonic stenosis, Cholestasis, Hypermethioninemia,... |
OMIM:614300 |
Isolated Polycystic Liver Disease |
|
Gastroesophageal reflux, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Inc... |
ORPHA:2924 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... |
ORPHA:90003 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepati... |
OMIM:232400 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hypergalactosemia, Cho... |
ORPHA:570422 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Intesti... |
ORPHA:131 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice, Abnormality of ... |
ORPHA:234 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Multiple myeloma, Elevated circulating C-reactive p... |
ORPHA:158057 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Decreased glucosephosphate isomerase level, Sple... |
OMIM:613470 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Abnormal enzyme/coenzyme activit... |
ORPHA:79095 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Immune Deficiency Disease |
|
Fulminant hepatitis, Cholangitis |
OMIM:242850 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Elevated circulating aspartate aminotransferase concentration, Elevated circu... |
OMIM:619685 |
Mirizzi Syndrome |
|
Cholelithiasis, Pancreatitis, Hyperbilirubinemia, Jaundice, Elevated circulating alkaline phospha... |
ORPHA:521219 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Reynolds Syndrome |
|
Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Spleno... |
OMIM:613471 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Elevated gamma-glutamyl... |
OMIM:603471 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:619232 |
Cholangiocarcinoma |
|
Acholic stools, Biliary tract neoplasm, Jaundice |
ORPHA:70567 |
Enteric Anendocrinosis |
|
Cholestatic liver disease, Diarrhea, Vomiting, Portal hypertension |
ORPHA:83620 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated alpha-fetoprotein, Vomiting, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Cholelithiasis, Giant cell hepatitis, Jaundice |
OMIM:214980 |
Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, Cholestasis, Patent duc... |
OMIM:267010 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Cyanosis And Hepatic Disease |
|
Abnormal abdomen morphology, Hepatitis |
OMIM:219400 |
Psoriasis 14, Pustular |
|
Oligoarthritis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis... |
OMIM:614204 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Osteomyelitis, Pustule, Recurrent tonsillitis, Hypovolemic shock, Atopic dermatit... |
ORPHA:171876 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating creatin... |
OMIM:614921 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... |
ORPHA:86841 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Cirrhosis, Portal hypertension, Hepatic failure |
OMIM:210050 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Vomiting, Hemolytic ane... |
OMIM:618892 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... |
OMIM:613673 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Arthritis, Elevated hepatic... |
OMIM:604250 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Hyperbilirubinemia, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosi... |
ORPHA:288 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hem... |
ORPHA:822 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... |
ORPHA:53693 |
Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration |
ORPHA:209981 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase... |
ORPHA:79303 |
Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatinine conce... |
OMIM:619111 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Hy... |
OMIM:609734 |
Cirrhosis, Familial |
|
Cirrhosis, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Decreased liver function, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated ... |
ORPHA:367 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Ppoma |
|
Cholelithiasis, Constipation, Hepatomegaly, Adrenocortical adenoma, Intestinal carcinoid, Diarrhe... |
ORPHA:97278 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic... |
OMIM:208540 |
Galactosemia I |
|
Decreased liver function, Increased level of galactitol in red blood cells, Hepatomegaly, Cirrhos... |
OMIM:230400 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Increased total bilirubin, Ascites, Elevated circulating alkaline phosp... |
OMIM:174050 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure |
OMIM:616719 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... |
OMIM:613759 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Osteo... |
ORPHA:79230 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... |
OMIM:601775 |
Retinitis Pigmentosa 89 |
|
Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis, Intrahepatic bile duct dilatation |
OMIM:618955 |
Cholangiocarcinoma, Susceptibility To |
|
Cholangiocarcinoma |
OMIM:615619 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... |
OMIM:616689 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Neuroendocrine neoplasm, Diarrhea, Hepatic cysts, Heart murmur, Facial telangiectas... |
ORPHA:100085 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Immunodeficiency 92 |
|
Osteomyelitis, Hepatomegaly, Lymphocytosis, Leukocytosis, Sclerosing cholangitis, B lymphocytopen... |
OMIM:619652 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... |
ORPHA:465508 |
Transaldolase Deficiency |
|
Telangiectasia, Cirrhosis, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Anem... |
ORPHA:101028 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Splenomegaly, ... |
OMIM:300635 |
Grfoma |
|
Cholelithiasis, Constipation, Hepatomegaly, Adrenocortical adenoma, Intestinal carcinoid, Diarrhe... |
ORPHA:97261 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis |
ORPHA:209919 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
Senior-Boichis Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Reduced n... |
ORPHA:84081 |
Bare Lymphocyte Syndrome, Type Ii |
|
Colitis, Viral hepatitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Infectiou... |
OMIM:209920 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... |
ORPHA:171 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis, Elevated circulating alkaline phosphatase concentration |
OMIM:615198 |
Nodular Regenerative Hyperplasia Of The Liver |
|
Abnormality of the hepatic vasculature, Portal hypertension |
ORPHA:48372 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Macrovesicular hepatic steatosis, Elevated gamma-glutamyltransferase le... |
OMIM:618329 |
Somatostatinoma |
|
Medullary thyroid carcinoma, Constipation, Hepatomegaly, Steatorrhea, Adrenocortical adenoma, Dia... |
ORPHA:97283 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, S... |
OMIM:224120 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... |
OMIM:301045 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Diarrhea, Hepatomegaly |
OMIM:261750 |
Porphyria Cutanea Tarda, Type I |
|
Eczema, Hepatic fibrosis |
OMIM:176090 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Acute otitis media, Sinusitis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies,... |
ORPHA:572 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Gastrointestinal hemorrhage, Ja... |
ORPHA:731 |
Disorder Of Bile Acid Synthesis |
|
Abnormal bleeding, Cholestasis, Biliary tract abnormality, Elevated hepatic transaminase, Abnorma... |
ORPHA:79168 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Elevated alpha-fetoprotein, Cirrhosis, Hyperammonemia, Elevated circulating aspa... |
OMIM:617049 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Testicular atrophy, Hepatomegaly, Splenomegaly, Cir... |
OMIM:235200 |
Paget Disease Of Bone 4 |
|
Osteolysis, Elevated circulating alkaline phosphatase concentration |
OMIM:606263 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... |
OMIM:619858 |
Carcinoid Syndrome |
|
Atypical pulmonary carcinoid tumor, Tricuspid regurgitation, Carcinoid tumor, Intestinal carcinoi... |
ORPHA:100093 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig... |
ORPHA:209902 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:614034 |
Galactosemia Iii |
|
Hepatomegaly, Decreased beta-galactosidase activity, Splenomegaly, Vomiting, Hypergalactosemia, J... |
OMIM:230350 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Diarrhea, Vomiting, Hepatic fibrosis, Hypo... |
OMIM:602579 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Bone marrow hypocellularity, Refractory anemia, Acute myeloid leukemia |
OMIM:616871 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Diarrhea, Elevated circ... |
ORPHA:370 |
Porphyria Cutanea Tarda |
|
Cirrhosis, Hepatocellular carcinoma |
OMIM:176100 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Hepatomegaly, Jaundice, Hepatic failure |
ORPHA:60 |
Bile Acid Malabsorption, Primary, 2 |
|
Periportal fibrosis, Steatorrhea, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:619481 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Portal hypertension, Ascites, Cardiomyopathy |
OMIM:232500 |
Hypermanganesemia With Dystonia 1 |
|
Decreased liver function, Hepatomegaly, Polycythemia, Cirrhosis, Elevated hepatic transaminase, H... |
OMIM:613280 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypertriglyceridemia, Elevated ... |
OMIM:232700 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi... |
OMIM:616649 |
Halothane Hepatitis |
|
Hepatitis, Viral hepatitis, Jaundice |
OMIM:234350 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... |
OMIM:613489 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hepatic fibrosis, Polycystic ovaries, Hypertension, Hepatic steatosis |
ORPHA:280356 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Jaundice, Cholangitis |
OMIM:607626 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Chronic dia... |
ORPHA:309108 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis... |
OMIM:185000 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Tricuspid regurgitation, Portal hypertension, Splenomegaly |
OMIM:616589 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Jaundice, Cholestasis |
OMIM:614887 |
Fadd-Related Immunodeficiency |
|
Decreased liver function, Hepatic fibrosis |
ORPHA:306550 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Hyperammonemia, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic ... |
OMIM:618641 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Vomiting, Cholestasis, Prolonged neonatal jaundice, Bile duct prol... |
OMIM:301068 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia, Elevated circulating alkaline phosphatase concentrati... |
OMIM:193100 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Osteomal... |
ORPHA:89937 |
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, Elevated ci... |
OMIM:239100 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Abn... |
ORPHA:57777 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Elevated hepatic transaminase, Telangiectasia, Spontaneous, recurrent epistaxis, Portal hypertension |
OMIM:615506 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, ... |
OMIM:618775 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Coach Syndrome 1 |
|
Abnormal abdomen morphology, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrh... |
OMIM:216360 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Hyperbilirubinemia, Microvesicular hepatic steatosis, Acute hepatic failure, Vomiti... |
OMIM:613070 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... |
OMIM:203700 |
Immunodeficiency 91 And Hyperinflammation |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatomega... |
OMIM:619644 |
Alveolar Echinococcosis |
|
Decreased liver function, Budd-Chiari syndrome, Abnormal spleen morphology, Hepatic cysts, Liver ... |
ORPHA:284 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Metacarpal periosteal thickening, Hyperphosphatemia, Hypercalcemia, Calvarial osteosc... |
OMIM:617994 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Necrotizing enterocol... |
OMIM:201475 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
Mantle Cell Lymphoma |
|
Weight loss, B-cell lymphoma, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Chronic oral candidiasis, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepati... |
OMIM:308230 |
Chylomicron Retention Disease |
|
Steatorrhea, Diarrhea, Vomiting, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hy... |
OMIM:246700 |
Galactosemia |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic failure, Cirrhosis, Increased level of g... |
ORPHA:352 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Acute hepatic failure, Cirrhos... |
ORPHA:228426 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Diarrhea, Elevated circ... |
ORPHA:264580 |
Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Colitis, Hepatomegaly, Cirrhosis, Chronic hepatitis, Diarrhea, Decreased serum i... |
OMIM:614602 |
Vipoma |
|
Hepatomegaly, Benign gastrointestinal tract tumors, Adrenocortical adenoma, Increased circulating... |
ORPHA:97282 |
Aggressive Systemic Mastocytosis |
|
Elevated circulating alkaline phosphatase concentration, Maculopapular exanthema, Diarrhea, Incre... |
ORPHA:98850 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Diarrhea, Cholestasis, Hyp... |
ORPHA:247598 |
Familial Expansile Osteolysis |
|
Osteolysis, Thin bony cortex, Elevated circulating alkaline phosphatase concentration, Pathologic... |
OMIM:174810 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Decreased liver function, Microvesicular hepatic steatosis, Cholestasis, Elevated hepatic transam... |
OMIM:124000 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Decreased circulating ferritin concentration, Hepatomegaly, Micronodular cirrhosis, Jaundice, Spl... |
ORPHA:309854 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Skin rash, Splenomegaly, Cholestasis, Hypertension |
OMIM:105200 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Osteomyelitis leading to amputation due to slow healing fractures, Hepatomegaly, Microvesicular h... |
OMIM:256810 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemi... |
ORPHA:36913 |
Meckel Syndrome, Type 6 |
|
Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Cystic liver disease |
OMIM:612284 |
Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Hepatomegaly, Increased bone mineral density, Splenomegaly |
ORPHA:2204 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Atrial flutter, Dysphagia, Atrial fibrillation, First degree ... |
OMIM:160900 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hemangioma, Hepatosplenom... |
ORPHA:824 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Enlarged tonsils, Leukocytosis |
ORPHA:168621 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:109270 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Hepatosplenomegaly, Hepatic fibrosis, Acute hepatic failure |
ORPHA:466794 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Recurrent otitis media, Splenomegaly |
ORPHA:444463 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Hyperbilirubinemia, Biliary atresia, Diarrhea, Cholestasis, Pancreatic hypoplas... |
OMIM:615710 |
Rft1-Cdg |
|
Abnormal bleeding, Hepatomegaly |
ORPHA:244310 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Hypoproteinemia, Splenomegaly, Leukocytosis, Lymphadenitis, Elevated circulating cr... |
OMIM:615895 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration, Hep... |
OMIM:614886 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Constipation, Abnormal circulating thyroglobulin lev... |
ORPHA:95715 |
Glucagonoma |
|
Constipation, Hepatomegaly, Steatorrhea, Adrenocortical adenoma, Diarrhea, Increased circulating ... |
ORPHA:97280 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Increased red cell sickling tendency, H... |
OMIM:603903 |
Hepatocellular Carcinoma |
|
Hepatomegaly, Diarrhea, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Hyponatremia... |
ORPHA:88673 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... |
OMIM:241520 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
Galactosemia Iv |
|
Hypergalactosemia, Prolonged neonatal jaundice |
OMIM:618881 |
Lambert Syndrome |
|
Jaundice, Cholestasis, Intrahepatic biliary atresia |
ORPHA:1296 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemic tetany, Hyperpho... |
ORPHA:94089 |
Cog4-Cdg |
|
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Intermitt... |
ORPHA:263501 |
Retinohepatoendocrinologic Syndrome |
|
Degenerative liver disease, Elevated circulating creatine kinase concentration |
OMIM:268040 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Fulminant hepatic failure, Hepatomegaly, Cholestasis |
OMIM:609060 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Nephritis, Polycystic liver disease, Pancreatic fibrosis, Pulmonary insufficiency, Conjugated hyp... |
OMIM:208500 |
Sclerosteosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis |
ORPHA:3152 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Cystic Echinococcosis |
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Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia, Elev... |
ORPHA:400 |
Ghosal Hematodiaphyseal Dysplasia |
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Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly |
ORPHA:1802 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
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Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased spinal bo... |
ORPHA:329475 |
Refractory Celiac Disease |
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Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Elevated alkaline ... |
ORPHA:398063 |
Immunodeficiency 104 |
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Gastroesophageal reflux, Hepatomegaly, Splenomegaly, Otitis media, Eczema, Diarrhea, T lymphocyto... |
OMIM:608971 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... |
OMIM:603552 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
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Biliary atresia, Elevated circulating creatine kinase concentration, Myositis |
ORPHA:565899 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
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Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Cirrhosis, Elevated gamma-glutamyltransferase level, Elevated hepatic transaminase, Hypoalbuminem... |
OMIM:242150 |
Calciphylaxis |
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Ectopic ossification, Hyperphosphatemia |
ORPHA:280062 |
Neutral Lipid Storage Disease With Myopathy |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... |
OMIM:610717 |
Hereditary Hemorrhagic Telangiectasia |
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Cholelithiasis, Telangiectasia of the skin, Hepatic failure, Subarachnoid hemorrhage, Abnormal ca... |
ORPHA:774 |
Congenital Disorder Of Glycosylation, Type Iil |
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Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, E... |
OMIM:614576 |
Osteopetrosis, Autosomal Recessive 1 |
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Osteomyelitis, Hypocalcemia, Increased bone mineral density, Hepatomegaly, Craniosynostosis, Oste... |
OMIM:259700 |
Autoimmune Polyendocrinopathy Type 4 |
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Thymoma, Iridocyclitis, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Atrophic gastritis,... |
ORPHA:227990 |
Aicardi-Goutieres Syndrome 9 |
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Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Chilblains, Pericarditis, Acute p... |
OMIM:619487 |
Portal Vein, Cavernous Transformation Of |
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Extrahepatic portal hypertension |
OMIM:601004 |
Sialuria |
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Cholelithiasis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly |
ORPHA:3166 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased bone mine... |
OMIM:239000 |
Relapsing Fever |
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Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... |
ORPHA:91547 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Decreased 3-hydroxyacyl-CoA dehydrogenase level, Fulminant hepatic failure, Dilated cardiomyopath... |
OMIM:231530 |
Meckel Syndrome, Type 4 |
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Bile duct proliferation |
OMIM:611134 |
Congenital Disorder Of Glycosylation, Type Iip |
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Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... |
OMIM:616829 |
Interstitial Lung And Liver Disease |
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Hepatomegaly, Hepatic failure, Hyperammonemia, Cirrhosis, Intraalveolar phospholipid accumulation... |
OMIM:615486 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
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Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Jaundice |
OMIM:614876 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Periportal fibrosis, Splenomegaly, Enlarged kidney, Hepatic cysts, Portal hypertens... |
OMIM:263200 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
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Diarrhea, Hepatomegaly, Vomiting |
OMIM:605911 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Abnormal circulating acetylcarnitine concentration, Decreased 3-hydroxyacyl-CoA dehydrogenase lev... |
ORPHA:71212 |
Complement Component 4B Deficiency |
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Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia, Recurrent otitis media |
OMIM:614379 |
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 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Wilson Disease |
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Hepatomegaly, Bruising susceptibility, Splenomegaly, Acute hepatic failure, Cirrhosis, Abnormalit... |
ORPHA:905 |
D-Bifunctional Protein Deficiency |
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Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Bile duct proliferation, ... |
OMIM:261515 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles... |
OMIM:267700 |
Lipoyltransferase 1 Deficiency |
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Decreased liver function, Elevated hepatic transaminase, Increased total bilirubin, Pulmonary art... |
OMIM:616299 |
Autoimmune Polyendocrinopathy Type 3 |
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Thymoma, Iridocyclitis, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Atrophic gastritis,... |
ORPHA:227982 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
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Gastrointestinal hemorrhage, Retinal telangiectasia, Portal hypertension, Pancytopenia |
OMIM:617341 |
Infantile Sialic Acid Storage Disease |
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Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia, Ascites, Cardi... |
OMIM:269920 |
Galactosemia Ii |
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Hypergalactosemia, Prolonged neonatal jaundice |
OMIM:230200 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Cortical sclerosis, Diaphyseal sclerosis, Elevated circulating alkaline phosphatase concentration... |
OMIM:122860 |
Diamond-Blackfan Anemia 18 |
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Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
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Hepatomegaly |
OMIM:614882 |
Intrahepatic Cholestasis Of Pregnancy |
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Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Abnormality of the p... |
ORPHA:69665 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
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Cirrhosis, Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia |
OMIM:614743 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Diarrhea, Elevated circ... |
ORPHA:79240 |
Insulin-Resistance Syndrome Type B |
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Hodgkin lymphoma, Multiple myeloma, Abnormal circulating fatty-acid concentration, Nephritis, Abn... |
ORPHA:2298 |
Idiopathic Congenital Hypothyroidism |
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Constipation, Elevated circulating thyroid-stimulating hormone concentration, Prolonged neonatal ... |
ORPHA:95717 |
Interstitial Lung Disease 2 |
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Cirrhosis, Pulmonary arterial hypertension, Alveolar cell carcinoma |
OMIM:178500 |
Cranioectodermal Dysplasia 2 |
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Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Left ventricular hypertrophy, Cholestasis, Elevat... |
OMIM:613610 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Hypocalcemia, Osteomal... |
ORPHA:289157 |
Retinitis Pigmentosa 59 |
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Elevated hepatic transaminase, Cryptorchidism, Hepatomegaly |
OMIM:613861 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Hypertension, Hepatic steatosis |
ORPHA:363400 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Hepatomegaly, Hepatosplenomegaly, Diarrhea, Pulmonary hemorrhage, Absence of lymph node germinal ... |
ORPHA:79124 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Hypophosphatemia, E... |
OMIM:600081 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Recurrent fractures, Bone cyst, Hypophosphatemia, Hypocalcemia, Osteomalacia, Abnormal bone struc... |
ORPHA:93160 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
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Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Right ventricular hypertrophy, Ele... |
OMIM:613404 |
Porphyria Cutanea Tarda |
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Increased circulating ferritin concentration, Recurrent bacterial skin infections, Viral hepatiti... |
ORPHA:101330 |
Congenital Amegakaryocytic Thrombocytopenia |
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Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Immunodeficiency 47 |
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Exocrine pancreatic insufficiency, Hepatomegaly, Prolonged neonatal jaundice, Tricuspid regurgita... |
OMIM:300972 |
Gnathodiaphyseal Dysplasia |
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Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones |
ORPHA:53697 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Elevated cir... |
OMIM:600785 |
Autosomal Recessive Kenny-Caffey Syndrome |
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Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Calvarial osteoscl... |
ORPHA:93324 |
Systemic Primary Carnitine Deficiency |
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Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Polycythemia Vera |
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Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Hepatomegaly, Splenomegaly, Epi... |
ORPHA:729 |
Fanconi Renotubular Syndrome 2 |
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Osteopenia, Hypophosphatemia, Rickets, Elevated alkaline phosphatase of bone origin |
OMIM:613388 |
Thalassemia, Beta+, Silent Allele |
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Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Neutrophilia, Hereditary |
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Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Citrullinemia Type Ii |
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Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ... |
ORPHA:247585 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Elevated circulating C-reactive protein concentration, Hepatomegaly, Lymphoproliferative disorder... |
OMIM:615688 |
Overhydrated Hereditary Stomatocytosis |
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Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Congenital Disorder Of Glycosylation, Type Iih |
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Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... |
OMIM:611182 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Cholestasis, Enlarged kidney, Hepatic fib... |
OMIM:615415 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... |
OMIM:615234 |
Lathosterolosis |
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Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Hepatosplenomegaly, ... |
OMIM:607330 |
Argininemia |
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Hepatomegaly, Micronodular cirrhosis, Hyperammonemia, Hyperargininemia, Episodic vomiting, Vomiti... |
OMIM:207800 |
Bilateral Striopallidodentate Calcinosis |
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Hepatomegaly, Subcutaneous hemorrhage, Abnormality of the liver |
ORPHA:1980 |
Hepatitis, Fulminant Viral, Susceptibility To |
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Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Gingival bleed... |
OMIM:618549 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
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Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia |
ORPHA:713 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia |
OMIM:608898 |
Nephronophthisis 18 |
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Portal fibrosis, Tubulointerstitial nephritis, Cholestasis |
OMIM:615862 |
Isolated Sedoheptulokinase Deficiency |
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Cholestatic liver disease, Steatorrhea, Cholestasis, Hypochromic microcytic anemia, Hepatitis, Po... |
ORPHA:440713 |
Duodenal Neuroendocrine Tumor |
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Melena, Hepatic failure, Tricuspid stenosis, Intestinal carcinoid, Extrahepatic cholestasis, Righ... |
ORPHA:100076 |
Pseudohypoparathyroidism, Type Ia |
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Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Subcutaneous ossification |
OMIM:103580 |
Primary Lipodystrophy |
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Angina pectoris, Hyperlipidemia, Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hyper... |
ORPHA:90970 |
Pseudohypoparathyroidism, Type Ic |
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Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis |
OMIM:612462 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
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Persistence of hemoglobin F |
OMIM:141749 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Patchy osteosclerosis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Familial Atrial Myxoma |
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Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Heart mur... |
ORPHA:615 |
Igg4-Related Thyroid Disease |
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Abnormality of the pituitary gland, Hypocalcemia, Sialadenitis, Euthyroid goiter, Nodular goiter,... |
ORPHA:64744 |
Elliptocytosis 2 |
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Neonatal hyperbilirubinemia, Reticulocytosis, Elliptocytosis, Hemolytic anemia |
OMIM:130600 |
Niemann-Pick Disease, Type B |
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Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Hepatomegaly, Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Hypoalbuminemia, Ascites |
OMIM:226300 |
Cystic Fibrosis |
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Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Cirrhosis, Hepatosplenomegaly, Mal... |
OMIM:219700 |
Wolcott-Rallison Syndrome |
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Exocrine pancreatic insufficiency, Hepatomegaly, Lymphocytosis, Hyperbilirubinemia, Hyperammonemi... |
ORPHA:1667 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
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B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Weight loss, Lymphadenop... |
ORPHA:86893 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
Lipodystrophy, Familial Partial, Type 3 |
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Cirrhosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Polycyst... |
OMIM:604367 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
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Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice, Hyperkalemia |
OMIM:608885 |
Immunodeficiency 97 With Autoinflammation |
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Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:619802 |
Joubert Syndrome With Hepatic Defect |
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Neoplasm of the liver, Hepatomegaly, Splenomegaly, Intrahepatic biliary atresia, Cirrhosis, Conge... |
ORPHA:1454 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
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Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis, Reduced bone mineral density |
ORPHA:970 |
Hypobetalipoproteinemia, Familial, 1 |
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Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... |
OMIM:615558 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis |
OMIM:614924 |
Mast Cell Sarcoma |
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Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopat... |
ORPHA:66661 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia, Hypokalemia, Osteomalacia, Pathologic fracture, Elevated circulating creatinine con... |
OMIM:179800 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
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Cirrhosis, Diarrhea, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty a... |
OMIM:609313 |
Macrophage Activation Syndrome |
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Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... |
ORPHA:158061 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... |
OMIM:600649 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Hypophosphatemic rickets, Hypophosphatemia, Reduced bone mineral density, Osteomalacia, Pathologi... |
ORPHA:157215 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
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Gastroesophageal reflux, Cirrhosis, Aplastic anemia, Mediastinal lymphadenopathy, Myeloid leukemi... |
OMIM:614742 |
Preeclampsia |
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Abnormality of the hepatic vasculature, Elevated circulating creatinine concentration, Type I dia... |
ORPHA:275555 |
Intermediate Osteopetrosis |
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Recurrent fractures, Cortical sclerosis, Osteomyelitis, Elevated circulating alkaline phosphatase... |
ORPHA:210110 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... |
OMIM:610199 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Abnormal circulating calcium concentration, Reduced bone mineral density, Th... |
OMIM:619795 |
Senior-Loken Syndrome |
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Abnormality of bone mineral density, Congenital hepatic fibrosis |
ORPHA:3156 |
Citrullinemia, Classic |
|
Hepatomegaly, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Hypoargininemia, Hyperglu... |
OMIM:215700 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Pulmonic stenosis, Cholestasis, Enlarged kidney, Pate... |
OMIM:615382 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Mitochondrial Myopathy, Infantile, Transient |
|
Decreased plasma carnitine, Elevated circulating creatine kinase concentration, Hepatomegaly, Inc... |
OMIM:500009 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis |
OMIM:616629 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Angina pectoris, Pseudobulbar paralysis, Diarrhea, Myocardial infarction, Abnorma... |
OMIM:213700 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, Macrocytic anemia, Hemolytic anem... |
OMIM:615512 |
Osteootohepatoenteric Syndrome |
|
Hypokalemia, Microvesicular hepatic steatosis, Episodic vomiting, Cholestasis, Hepatic fibrosis, ... |
OMIM:619377 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... |
ORPHA:90044 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastroesophageal reflux, Cirrhosis, Diarrhea, Vomiting, Macrovesicular hepatic steatosis, Elevate... |
ORPHA:298 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Pancreatitis, Neutrophilia, Vasculitis in the skin, Cervical lymphad... |
ORPHA:3260 |
Graft Versus Host Disease |
|
Elevated circulating alkaline phosphatase concentration, Hemophagocytosis, Maculopapular exanthem... |
ORPHA:39812 |
Hyperostosis Frontalis Interna |
|
Elevated circulating alkaline phosphatase concentration, Hyperostosis frontalis interna |
OMIM:144800 |
Pparg-Related Familial Partial Lipodystrophy |
|