Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... |
OMIM:616860 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis... |
OMIM:614480 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... |
OMIM:613313 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... |
OMIM:619658 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated... |
OMIM:616278 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Porphyria Cutanea Tarda |
|
Increased circulating ferritin concentration, Recurrent bacterial skin infections, Viral hepatiti... |
ORPHA:101330 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... |
ORPHA:300298 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... |
ORPHA:53693 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... |
OMIM:231100 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increased serum iron, ... |
ORPHA:446 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep... |
OMIM:278000 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... |
OMIM:300635 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver |
OMIM:206100 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous... |
OMIM:271500 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein... |
OMIM:619662 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... |
ORPHA:444463 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Conge... |
ORPHA:79230 |
Cyanosis And Hepatic Disease |
|
Abnormal abdomen morphology, Hepatitis |
OMIM:219400 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly |
OMIM:616719 |
Cirrhosis, Familial |
|
Cirrhosis, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Elevated gamma-glutamyl... |
OMIM:603471 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased mean corpuscular volume, Anemia of inadequate production, Abnormality o... |
ORPHA:231222 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepati... |
OMIM:232400 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... |
ORPHA:369 |
Porphyria Cutanea Tarda, Type I |
|
Hyperpigmentation of the skin, Eczema, Hepatic fibrosis |
OMIM:176090 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... |
OMIM:613759 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Decreased liver function, Neutropenia, Hepatomegaly... |
ORPHA:158061 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Ane... |
OMIM:205950 |
Halothane Hepatitis |
|
Eosinophilia, Hepatitis, Viral hepatitis, Jaundice |
OMIM:234350 |
Fadd-Related Immunodeficiency |
|
Decreased liver function, Hepatic fibrosis |
ORPHA:306550 |
Hemochromatosis Type 4 |
|
Increased circulating ferritin concentration, Cirrhosis, Congenital hepatic fibrosis, Generalized... |
ORPHA:139491 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... |
OMIM:613812 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Elevated hepatic transam... |
OMIM:214950 |
Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatinine conce... |
OMIM:619111 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... |
OMIM:232700 |
Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... |
OMIM:600803 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619868 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... |
OMIM:616828 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Hepatomegaly, Jaundice, Hepatic failure |
ORPHA:60 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated circulating alkaline phosphatase concentration, Periportal fibrosis, Elevated gamma-glut... |
OMIM:619484 |
Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Enlarged kidney, Elevated hepatic transa... |
OMIM:619902 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... |
OMIM:616829 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... |
OMIM:619858 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Elev... |
ORPHA:567983 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased circulating ferritin concentration, Cholelithiasis, Hepatomegaly, Splenomegaly, Increas... |
OMIM:194380 |
Bile Acid Malabsorption, Primary, 2 |
|
Periportal fibrosis, Elevated circulating aspartate aminotransferase concentration, Copper accumu... |
OMIM:619481 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P... |
ORPHA:64743 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Hepatosplenomegaly, Hepatic fibrosis, Acute hepatic failure |
ORPHA:466794 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Cirrhosis,... |
OMIM:607765 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Abnormality of retina... |
ORPHA:48818 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... |
OMIM:620010 |
Pediatric Hepatocellular Carcinoma |
|
Elevated alpha-fetoprotein, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis |
ORPHA:33402 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased hepatic glycogen content, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hypoglycem... |
ORPHA:293964 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Adult-Onset Still Disease |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Hepatomegaly, Abnormal circu... |
ORPHA:829 |
Mpi-Cdg |
|
Decreased liver function, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic fibrosis, Hypo... |
ORPHA:79319 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... |
OMIM:237800 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubinemia, Splenomegaly, ... |
OMIM:251880 |
Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis |
OMIM:619398 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Hyperammonemia, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic ... |
OMIM:618641 |
Retinitis Pigmentosa 89 |
|
Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis, Intrahepatic bile duct dilatation |
OMIM:618955 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... |
OMIM:214900 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Abnormality of iron homeostasis,... |
ORPHA:848 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... |
ORPHA:53035 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure |
OMIM:261650 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Cholestatic liver disease |
OMIM:602114 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Jaundice |
OMIM:312500 |
Complement Component 4B Deficiency |
|
Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia, Recurrent otitis media |
OMIM:614379 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase... |
ORPHA:79303 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormal circulating lipid concentration, Splenomegaly, Leukopenia, White hair, Thr... |
ORPHA:381 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... |
OMIM:617156 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... |
OMIM:615234 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Elevated circulating cr... |
ORPHA:370 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Wilson Disease |
|
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Thrombocytopenia, ... |
ORPHA:905 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... |
OMIM:611182 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Abnormality of iron homeostasis, Elevated hepatic transaminase, Hyperpigmentation o... |
ORPHA:75563 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Skin rash, Splenomegaly |
OMIM:619175 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Unconjugated hyperbilirubinemia, Hepatic failure |
OMIM:143500 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Alpha-1-Antitrypsin Deficiency |
|
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated he... |
OMIM:613490 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... |
OMIM:610717 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Arthritis, Elevated hepatic... |
OMIM:604250 |
Primary Biliary Cholangitis |
|
Elevated circulating alkaline phosphatase concentration, Abnormal circulating lipid concentration... |
ORPHA:186 |
Atransferrinemia |
|
Abnormality of the liver, Atransferrinemia, Hypochromic anemia |
OMIM:209300 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Osteo... |
OMIM:606069 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... |
OMIM:603552 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic failure, Cirrhosis, Hepatic fibrosis, Hypoalbuminemia, Lymphangiectasis |
OMIM:602579 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Hypoglycemic seizures, Hyponatremia, Prolonged neonatal jaundice, Neonatal hypoglycemia |
ORPHA:199296 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Elevated circulating cr... |
ORPHA:264580 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Hashimoto thyr... |
OMIM:618549 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Hepatic failure, Abnormal mitochondrial morphology, Cholestasis, Elevated hepatic t... |
OMIM:618528 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Abnormal enzyme/coenzyme activit... |
ORPHA:79095 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Cirrh... |
OMIM:300972 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Hypoproteinemia, Splenomegaly, Leukocytosis, Lymphadenitis, Elevated circulating cr... |
OMIM:615895 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas, Arthritis |
ORPHA:1195 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hyperammonemia, Hepatic failure, Cirrhosis, Intraalveolar phospholipid accumulation... |
OMIM:615486 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Hypocalcemia, Osteomyelitis, Skin rash, Abnormality of the lymphatic system, Chronic o... |
ORPHA:47 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ... |
ORPHA:247585 |
Transaldolase Deficiency |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... |
OMIM:606003 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Isolated Biliary Atresia |
|
Decreased liver function, Hepatomegaly, Periportal fibrosis, Elevated circulating alkaline phosph... |
ORPHA:30391 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... |
ORPHA:541423 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Increased erythrocyte protoporphyrin concentration, Elevated hepatic transaminase... |
OMIM:300752 |
Immunodeficiency 104 |
|
Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid... |
OMIM:608971 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Portal hypertension, Splenomegaly |
OMIM:616589 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
Galactosemia Iii |
|
Hepatomegaly, Decreased beta-galactosidase activity, Splenomegaly, Hypergalactosemia, Jaundice |
OMIM:230350 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Increased serum bile acid concentration during pregnancy, Elevated hepatic transaminase, Abnormal... |
OMIM:147480 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... |
ORPHA:79301 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Elevated circulating cr... |
ORPHA:79240 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Chronic oral candidiasis, Otitis media, Eosinophilia, Hepatosplenomegaly, Hepatitis,... |
ORPHA:169160 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hyperammonemia, Hepatic failure, Skin rash, Leukopenia, Cholestasis, Abnormal macro... |
ORPHA:292 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cholestasis, Hepatic fibrosis |
OMIM:615630 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transaminase, Increased total bilir... |
OMIM:210500 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... |
OMIM:619991 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Congenital hepatic fibrosis |
ORPHA:3156 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig... |
ORPHA:209902 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Cirr... |
ORPHA:231226 |
Caroli Syndrome |
|
Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Elevated circulating alkaline phosphatase concent... |
ORPHA:480520 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Ascites, Jaundice |
ORPHA:890 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Cholelithiasis, Giant cell hepatitis, Jaundice |
OMIM:214980 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Cholestasis, Chronic hepatic fail... |
ORPHA:171 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Necrotizing enterocol... |
OMIM:201475 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonep... |
OMIM:304790 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Con... |
OMIM:619232 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosi... |
OMIM:308240 |
Senior-Boichis Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Reduced n... |
ORPHA:84081 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia |
OMIM:608898 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Prolonged neonatal jaundice |
OMIM:262400 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Arthritis, H... |
OMIM:602390 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Elevated circulating alkaline phosphatase concentration, Hy... |
ORPHA:39812 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... |
OMIM:616689 |
Trichohepatoenteric Syndrome 2 |
|
Colitis, Hepatomegaly, Cirrhosis, Chronic hepatitis, Decreased serum iron |
OMIM:614602 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Elevated hepatic transaminase, De... |
OMIM:301045 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H... |
OMIM:306000 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Spleno... |
OMIM:235555 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Skin rash, Hepatospleno... |
OMIM:618963 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Dpm1-Cdg |
|
Hepatomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concentration, Elevated he... |
ORPHA:79322 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Hyperbilirubi... |
ORPHA:562639 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Cholestasis, Enlarged kidney, Hepatic fibrosis, Asplenia |
OMIM:615415 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Hyperalaninemia, Left ventricular hypertrophy, Decreased liver function, Elevated hepatic transam... |
OMIM:616974 |
Immunodeficiency 56 |
|
Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis, Recurrent sinusit... |
OMIM:615207 |
Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... |
ORPHA:454836 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating creatin... |
OMIM:614921 |
Nephronophthisis 16 |
|
Patent ductus arteriosus, Periportal fibrosis, Cholestasis, Enlarged kidney |
OMIM:615382 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Abnormality of the hepatic vasculature, Hepatosplen... |
ORPHA:210136 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Coach Syndrome 1 |
|
Abnormal abdomen morphology, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrh... |
OMIM:216360 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Pustule, Acute hepatic failure, Skin rash, Eosinophilia, Interstitial pneumonitis,... |
ORPHA:139402 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... |
OMIM:600649 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis |
OMIM:616629 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... |
OMIM:208540 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... |
ORPHA:75234 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... |
ORPHA:3202 |
Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate |
OMIM:607361 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Cholestatic liver disease, Hepatomegaly, Right ventricular hypertrophy, Ele... |
OMIM:613404 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic failure, Hypoglycemia, Pancytopenia, Hepatic steatosis |
OMIM:617872 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... |
ORPHA:231214 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the you... |
ORPHA:324575 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Hepatic failure, Cir... |
ORPHA:79302 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Chilblains, Pericarditis, Acute p... |
OMIM:619487 |
Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Thrombocytopenia, Chilblains |
OMIM:610329 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Eczema, Decreased prealbumin level, Pneumonia, Eczematoid dermatitis, Colitis, Osteomy... |
ORPHA:37042 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ... |
ORPHA:33110 |
Congenital Respiratory-Biliary Fistula |
|
Abnormality of the liver |
ORPHA:2040 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased liver function, Hyperornithinemia, Hepatomegaly, Hyperammonemia, Acute hepatitis |
OMIM:238970 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reduced level of N-acetylglucosami... |
OMIM:224100 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri... |
OMIM:613027 |
Joubert Syndrome 9 |
|
Hepatic fibrosis |
OMIM:612285 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Legionnaires Disease |
|
Pancreatitis, Lymphopenia, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Infectious encepha... |
ORPHA:549 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... |
OMIM:613673 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Chronic oral candidiasis, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepati... |
OMIM:308230 |
Melioidosis |
|
Splenic abscess, Prostatitis, Osteoarthritis, Abnormality of the spleen, Parotitis, Acute infecti... |
ORPHA:31202 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Normocytic ane... |
OMIM:235700 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Microvesicular hepatic steatosis, Hepatomegaly, Elevated circulating alkaline phosphatase concent... |
OMIM:300868 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, S... |
OMIM:224120 |
Dpm3-Cdg |
|
Elevated creatine kinase after exercise, Elevated hepatic transaminase |
ORPHA:263494 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Increased prop... |
OMIM:615559 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Bilia... |
ORPHA:1414 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration |
OMIM:612937 |
Cholestasis, Intrahepatic, Of Pregnancy 3 |
|
Abnormal liver function tests during pregnancy, Increased serum bile acid concentration during pr... |
OMIM:614972 |
Lysosomal Acid Lipase Deficiency |
|
Decreased liver function, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Elevated circ... |
ORPHA:275761 |
Propionic Acidemia |
|
Hypoglycemia, Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hyperammonemia |
ORPHA:35 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hemolytic anemia, Hyper... |
OMIM:618892 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Acute otitis media, Sinusitis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies,... |
ORPHA:572 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Cholestatic liver disease, Hypochromic microcytic anemia, Cholestasis... |
ORPHA:440713 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Leishmaniasis |
|
Hepatomegaly, Rhinitis, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopeni... |
ORPHA:507 |
Nodular Regenerative Hyperplasia Of The Liver |
|
Abnormality of the hepatic vasculature, Portal hypertension |
ORPHA:48372 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Generalized hypopigmentation, Cholestasis... |
OMIM:222470 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Hyperbilirubinemia, Cholestasis, Hypermethioninemia, Elevated hepatic t... |
OMIM:614300 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hepatic failure, Splenomegaly, Hyperammonemia |
ORPHA:664 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... |
ORPHA:54251 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:617093 |
Bacterial Toxic-Shock Syndrome |
|
Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Septic arthritis,... |
ORPHA:36234 |
Lichen Planopilaris |
|
Hepatitis, Hypopigmented skin patches |
ORPHA:525 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... |
OMIM:613101 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellul... |
OMIM:235200 |
Osteootohepatoenteric Syndrome |
|
Hypokalemia, Microvesicular hepatic steatosis, Cholestasis, Hepatic fibrosis, Prolonged neonatal ... |
OMIM:619377 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Keratoconjun... |
ORPHA:91138 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Cholestatic liver disease, Intrahepatic biliary atresia, Right ventricular ... |
OMIM:208085 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... |
OMIM:610199 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, H... |
OMIM:601847 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Pancytope... |
ORPHA:79477 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia, Hyperglutaminemia, ... |
OMIM:207900 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:2377 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... |
ORPHA:369840 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Exocrine pancreatic insufficiency, Type II diabetes mellitus, Cirrhosis, Chronic hepatitis, Kerat... |
OMIM:269200 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... |
ORPHA:232 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Disorder Of Bile Acid Synthesis |
|
Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality |
ORPHA:79168 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Anemia |
OMIM:611283 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Decreased liver function, Hyperammonemia, Increased serum pyruvate, Elevated circulating sebacic ... |
OMIM:615160 |
Q Fever |
|
Osteomyelitis, Hepatomegaly, Splenomegaly, Maculopapular exanthema, Hepatosplenomegaly, Endocardi... |
ORPHA:781 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Enlarged kidney, Hepatic cysts, Portal hypertens... |
OMIM:263200 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Spl... |
ORPHA:731 |
Hypermanganesemia With Dystonia 1 |
|
Decreased liver function, Hepatomegaly, Polycythemia, Cirrhosis, Elevated hepatic transaminase, H... |
OMIM:613280 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepati... |
OMIM:255120 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:619386 |
Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Acute hepatic failure, Cirrhos... |
ORPHA:228426 |
Syndromic Diarrhea |
|
Colitis, Hepatomegaly, Hepatoblastoma, Lymphopenia, Splenomegaly, Gastritis, Cirrhosis, Hypoplasi... |
ORPHA:84064 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Increased circulating lactate dehyd... |
ORPHA:3203 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Cholestasis, Prolonged neonatal jaundice, Bile duct proliferation,... |
OMIM:301068 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Por... |
OMIM:277900 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis... |
OMIM:185000 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, E... |
OMIM:617713 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:614034 |
Immunodeficiency 91 And Hyperinflammation |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Hepatomegaly, Hemophagocytos... |
OMIM:619644 |
Farber Disease |
|
Abnormal enzyme/coenzyme activity, Hepatic failure, Hepatosplenomegaly, Arthritis, Elevated hepat... |
ORPHA:333 |
Abetalipoproteinemia |
|
Abnormal circulating apolipoprotein concentration, Abnormality of retinal pigmentation, Hepatomeg... |
ORPHA:14 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Splenomeg... |
OMIM:613489 |
Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Myopathy, Congenital, Nonprogressive |
|
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Patent ductus ... |
OMIM:619967 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... |
ORPHA:65682 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Neutropenia, Leukopenia, Aplastic anemia, Hepatic fibrosis, Pancytopenia, Bone marrow hypocellula... |
OMIM:613989 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... |
OMIM:612526 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma... |
ORPHA:98848 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
Peroxisome Biogenesis Disorder 1B |
|
Cirrhosis, Hepatic fibrosis, Hepatomegaly, Hyperoxaluria |
OMIM:601539 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia, Abnormal enzyme/coenzyme activity, Abnormal circulating histidine c... |
ORPHA:51208 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... |
OMIM:610333 |
Bare Lymphocyte Syndrome, Type Ii |
|
Colitis, Viral hepatitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Infectiou... |
OMIM:209920 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminas... |
ORPHA:858 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Hyperammonemia, Decreased plasma carnitine, Elevated hepatic transaminase, Decrease... |
OMIM:212140 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypoglycemia, Elevat... |
OMIM:619048 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi... |
OMIM:616649 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hyperammonemia |
OMIM:615453 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Cirrhosis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concentration, Chol... |
OMIM:609313 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi... |
OMIM:182900 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Elevated circula... |
ORPHA:228305 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... |
OMIM:619802 |
Donohue Syndrome |
|
Pancreatic islet-cell hyperplasia, Hypermelanotic macule, Hepatic fibrosis, Cholestasis |
OMIM:246200 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Iridocyclitis, Rheumatoid arthritis, Leukopenia, Autoimmune thrombocytopenia, Macrocytic... |
ORPHA:227990 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Hemolytic anemia,... |
OMIM:232800 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... |
ORPHA:540 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Elevated hepatic transaminase |
OMIM:246900 |
Myasthenia Gravis |
|
Rheumatoid arthritis, Glycosuria, Myositis, Hemolytic anemia, Hepatitis, Pure red cell aplasia, H... |
ORPHA:589 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Microcytic anemia, Hypoa... |
OMIM:619013 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:109270 |
Joubert Syndrome With Hepatic Defect |
|
Neoplasm of the liver, Hepatomegaly, Splenomegaly, Intrahepatic biliary atresia, Cirrhosis, Conge... |
ORPHA:1454 |
Mcleod Syndrome |
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Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Elevated circulat... |
OMIM:300842 |
Budd-Chiari Syndrome |
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Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Elevate... |
ORPHA:131 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
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Anemia of inadequate production, Congenital hypoplastic anemia, Increased circulating lactate deh... |
OMIM:105600 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hepatomegaly, Thrombocytosis, Hypocholesterolemia, Elevated hepatic transaminase, Hepatic fibrosi... |
OMIM:212065 |
Aspergillosis |
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Keratitis, Sinusitis, Osteomyelitis, Eosinophilia, Hepatitis, Infectious encephalitis, Pneumonia,... |
ORPHA:1163 |
Infantile Liver Failure Syndrome 1 |
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Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He... |
OMIM:615438 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
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Hepatomegaly, Hepatic failure, Low plasma citrulline, Hypoglycemia, Elevated circulating alanine ... |
OMIM:261680 |
Alstrom Syndrome |
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Chronic active hepatitis, Hepatomegaly, Nephritis, Otitis media, Decreased HDL cholesterol concen... |
OMIM:203800 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Hepatic failure, Elevated alpha-fetoprotein, Cirrhosis, Hyperammonemia, Elevated circulating aspa... |
OMIM:617049 |
Cirrhosis, Familial |
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Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Increased level of propylene glycol in bl... |
OMIM:215600 |
Lipoyltransferase 1 Deficiency |
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Decreased liver function, Increased total bilirubin, Elevated hepatic transaminase |
OMIM:616299 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
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Hepatomegaly, Hyperprolinemia, Elevated hepatic transaminase, Hyperalaninemia, Cardiomegaly |
OMIM:619064 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
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Hepatomegaly, Splenomegaly, Hepatitis, Hashimoto thyroiditis, Portal hypertension, Pancytopenia, ... |
OMIM:613385 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Cirrhosis, Elevated gamma-glutamyltransferase level, Elevated hepatic transaminase, Hypoalbuminem... |
OMIM:242150 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
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Elevated hepatic transaminase, Portal hypertension |
OMIM:615506 |
Glycogen Storage Disease Xii |
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Nonspherocytic hemolytic anemia, Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ... |
OMIM:611881 |
Liver Failure, Infantile, Transient |
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Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Acute hepatic failure, Macrov... |
OMIM:613070 |
Autoimmune Polyendocrinopathy Type 3 |
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Thymoma, Iridocyclitis, Rheumatoid arthritis, Leukopenia, Autoimmune thrombocytopenia, Macrocytic... |
ORPHA:227982 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Decreased liver function, Hyperornithinemia, Hepatomegaly, Hyperammonemia, Hepatic failure, Abnor... |
ORPHA:415 |
Congenital Dyserythropoietic Anemia Type Iii |
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Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Elevated hep... |
ORPHA:98870 |
X-Linked Lymphoproliferative Disease |
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Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad... |
ORPHA:2442 |
Anemia, Sideroblastic, 5 |
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Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Abnormal muscle glycogen content, Decreased liver function, Hepatomegaly, Hepatic failure, Cirrho... |
ORPHA:367 |
Megaloblastic Anemia, Folate-Responsive |
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Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... |
OMIM:601775 |
Thymic Aplasia |
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Decreased proportion of naive T cells, Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis... |
ORPHA:83471 |
Autoimmune Lymphoproliferative Syndrome |
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Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Uveitis, Bone marrow hypoce... |
ORPHA:3261 |
Meckel Syndrome, Type 6 |
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Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Cystic liver disease |
OMIM:612284 |
Bardet-Biedl Syndrome |
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Hepatic fibrosis, Pigmentary retinopathy |
ORPHA:110 |
Refractory Celiac Disease |
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Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Inflammatory abnormality of the skin, Hypoprotein... |
ORPHA:398063 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Cholelithiasis, Nonspherocytic hemolytic anemia, Decreased glucosephosphate isomerase level, Sple... |
OMIM:613470 |
Sea-Blue Histiocytosis |
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Blepharitis, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Hypopigmentation of the skin, Me... |
ORPHA:158029 |
Late-Onset Isolated Acth Deficiency |
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Eosinophilia, Normocytic anemia, Macrocytic anemia, Hypoglycemia, Hepatitis, Type I diabetes mell... |
ORPHA:199299 |
Orthostatic Hypotension 2 |
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Hypoglycemia, Anemia |
OMIM:618182 |
Vitamin B12-Responsive Methylmalonic Acidemia |
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Anemia, Hepatomegaly, Hyperammonemia |
ORPHA:28 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Hemophagocytosis, Sp... |
OMIM:603553 |
Omenn Syndrome |
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Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym... |
OMIM:603554 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
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Aplastic anemia, Hyperpigmentation of the skin, Hepatic fibrosis, Bone marrow hypocellularity, Th... |
OMIM:224230 |
Systemic-Onset Juvenile Idiopathic Arthritis |
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Elevated circulating C-reactive protein concentration, Hepatomegaly, Skin rash, Splenomegaly, Juv... |
ORPHA:85414 |
Joubert Syndrome 6 |
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Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Mast Cell Sarcoma |
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Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Pyruvate Dehydrogenase E3 Deficiency |
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Hepatomegaly, Hyperammonemia, Hepatic failure, Hyperisoleucinemia, Decreased plasma carnitine, El... |
ORPHA:2394 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Hypermethioni... |
ORPHA:247598 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Jaundice, I... |
OMIM:211600 |
Cog4-Cdg |
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Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Elevated ... |
ORPHA:263501 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
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Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
Ebola Hemorrhagic Fever |
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Lymphopenia, Maculopapular exanthema, Leukopenia, Acute pancreatitis, Hepatitis, Thrombocytopenia |
ORPHA:319218 |
Rh-Null, Regulator Type |
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Hemolytic anemia, Jaundice, Unconjugated hyperbilirubinemia, Stomatocytosis |
OMIM:268150 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Decreased liver function, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase conc... |
ORPHA:42 |
Mucopolysaccharidosis Type 7 |
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Hepatitis, Ascites, Splenomegaly |
ORPHA:584 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
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Pustule, Elevated creatine kinase after exercise, Elevated hepatic transaminase, Superficial derm... |
ORPHA:284426 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Exocrine pancreatic insufficiency, Lymphopenia, Elevated circulating alkaline phosphatase concent... |
OMIM:620005 |
Acrocephalopolydactylous Dysplasia |
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Hepatomegaly, Pancreatic fibrosis, Enlarged kidney, Hepatic fibrosis, Polysplenia, Ascites |
OMIM:200995 |
B4Galt1-Cdg |
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Inflammatory abnormality of the skin, Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomega... |
ORPHA:79332 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Nephritis, Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Hepatic ... |
OMIM:208500 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Osteomyelitis leading to amputation due to slow healing fractures, Microvesicular hepatic steatos... |
OMIM:256810 |
Pyruvate Carboxylase Deficiency |
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Hyperalaninemia, Increased serum pyruvate, Hypoglycemia, Hepatomegaly |
OMIM:266150 |
Eosinophilia, Familial |
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Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Immunodeficiency 82 With Systemic Inflammation |
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Elevated circulating C-reactive protein concentration, Gastritis, B lymphocytopenia, Pneumonia, D... |
OMIM:619381 |
Hereditary Elliptocytosis |
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Cholelithiasis, Prolonged neonatal jaundice, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, ... |
ORPHA:288 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
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Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Skin rash, Sple... |
OMIM:612714 |
Rh Deficiency Syndrome |
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Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Chronic gastritis, Recurrent otitis media, Viral hepatitis, Skin rash, Recurrent tonsillitis, Rhe... |
ORPHA:183675 |
Transaldolase Deficiency |
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Cirrhosis, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Anemia, Thrombocytop... |
ORPHA:101028 |
Mody |
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Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles... |
OMIM:267700 |
Infantile Liver Failure Syndrome 2 |
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Acute hepatic failure, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Jaundice |
OMIM:616483 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Sinusitis, Hepatomegaly, Lymphopenia, Skin rash, Splenomegaly, Myositis, Thrombocytopenia, Arthri... |
OMIM:617591 |
Focal Segmental Glomerulosclerosis 1 |
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Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Elliptocytosis 3 |
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Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... |
OMIM:617948 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Immune Deficiency Disease |
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Fulminant hepatitis, Cholangitis |
OMIM:242850 |
Immunodeficiency 102 |
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Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... |
OMIM:301082 |
Aicardi-Goutieres Syndrome 7 |
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Increased circulating ferritin concentration, Hepatomegaly, Skin rash, Splenomegaly, Atopic derma... |
OMIM:615846 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Lymphopenia, Enterocolitis, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymp... |
OMIM:243150 |
Sitosterolemia 1 |
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Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Arthritis, Increased circulating... |
OMIM:210250 |
Carnitine Palmitoyl Transferase 1A Deficiency |
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Elevated hepatic transaminase, Transient hyperlipidemia, Hepatomegaly, Hepatic failure |
ORPHA:156 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:618398 |
Nephronophthisis 3 |
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Hepatic fibrosis |
OMIM:604387 |
Hereditary Spherocytosis |
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Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hem... |
ORPHA:822 |
Wolman Disease |
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Hepatomegaly, Splenomegaly, Hepatic failure, Anemia, Bone-marrow foam cells, Ascites |
ORPHA:75233 |
Anemia, Sideroblastic, 1 |
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Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... |
OMIM:300751 |
Hemophagocytic Syndrome Associated With An Infection |
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Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
Lymphoproliferative Syndrome 1 |
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Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:613011 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
Neonatal Lupus Erythematosus |
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Neutropenia, Hepatomegaly, Skin rash, Splenomegaly, Hepatic failure, Maculopapular exanthema, Apl... |
ORPHA:398124 |
Cystic Echinococcosis |
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Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosph... |
ORPHA:400 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Cholelithiasis, Iridocyclitis, Chronic active hepatitis, Chronic oral candidiasis, Keratoconjunct... |
OMIM:240300 |
Microsporidiosis |
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Keratitis, Pancreatitis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneumonia, Rhinit... |
ORPHA:2552 |
Apolipoprotein C-Ii Deficiency |
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Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... |
OMIM:207750 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
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Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Epididymitis, Absent circulating B cells... |
OMIM:307200 |
Combined Oxidative Phosphorylation Deficiency 36 |
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Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Elevated circulatin... |
OMIM:617950 |
Nephronophthisis 11 |
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Anemia, Hepatic fibrosis |
OMIM:613550 |
Acute Erythroid Leukemia |
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Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia |
ORPHA:318 |
Osteopetrosis, Autosomal Recessive 8 |
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Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Gillessen-Kaesbach-Nishimura Syndrome |
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Periportal fibrosis |
OMIM:263210 |
Medullary Thyroid Carcinoma |
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Abnormal liver parenchyma morphology |
ORPHA:1332 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:79292 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Combined Oxidative Phosphorylation Deficiency 40 |
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Hypoglycemia, Decreased liver function, Anemia, Elevated circulating creatine kinase concentration |
OMIM:618835 |
Relapsing Fever |
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Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... |
ORPHA:91547 |
Adams-Oliver Syndrome |
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Cirrhosis, Leukopenia, Congenital hepatic fibrosis, Thrombocytopenia, Portal hypertension, Ascites |
ORPHA:974 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Hypoglycemia, Decreased liver function, Anemia, Elevated circulating creatine kinase concentration |
OMIM:618839 |
Interstitial Nephritis, Karyomegalic |
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Elevated hepatic transaminase, Tubulointerstitial nephritis, Elevated circulating creatinine conc... |
OMIM:614817 |
Autoinflammation With Infantile Enterocolitis |
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Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Spondyloenchondrodysplasia |
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Skin rash, Juvenile rheumatoid arthritis, Autoimmune thrombocytopenia, Arthritis, Hepatitis, Viti... |
ORPHA:1855 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hepatic fibrosis |
OMIM:614091 |
Becker Muscular Dystrophy |
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Elevated hepatic transaminase, Elevated circulating creatine kinase concentration |
ORPHA:98895 |
Agammaglobulinemia, X-Linked |
|
Bronchiectasis, Recurrent otitis media, Prostatitis, Pyoderma, Enteroviral hepatitis, Hepatocellu... |
OMIM:300755 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Decreased plasma carnitine, Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:201450 |
Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hyperbilirubinemia, Lymphocytosis, Hyperammonemi... |
ORPHA:1667 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hepatomegaly, Hypercalcemia |
ORPHA:2123 |
Cinca Syndrome |
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Elevated circulating C-reactive protein concentration, Leukocytosis, Skin rash, Eosinophilia, Hep... |
OMIM:607115 |
Idiopathic Hypereosinophilic Syndrome |
|
Pancreatitis, Neutrophilia, Cervical lymphadenopathy, Eczema, Erythroderma, Portal fibrosis, Coli... |
ORPHA:3260 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron, Diabetes ... |
OMIM:604290 |
Lesch-Nyhan Syndrome |
|
Anemia, Gout, Hyperuricemia |
ORPHA:510 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
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Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia |
ORPHA:27 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Decreased circulating ferritin concentration, Hepatomegaly, Micronodular cirrhosis, Jaundice, Spl... |
ORPHA:309854 |
Rift Valley Fever |
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Skin rash, Elevated hepatic transaminase, Hepatitis, Uveitis, Infectious encephalitis, Anemia, Th... |
ORPHA:319251 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Inflammatory abnormality of th... |
ORPHA:391487 |
Mccune-Albright Syndrome |
|
Hypophosphatemia, Pancreatitis, Large cafe-au-lait macules with irregular margins, Cholestasis, H... |
ORPHA:562 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly |
OMIM:616263 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatosplenomegaly, Increased ... |
ORPHA:79237 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Chronic Mucocutaneous Candidiasis |
|
Hepatitis, Skin rash, Cheilitis |
ORPHA:1334 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
Genetic Recurrent Myoglobinuria |
|
Hypocalcemia, Elevated aldolase level, Abnormality of glycolipid metabolism, Myositis, Increased ... |
ORPHA:99845 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia |
ORPHA:163596 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:2031 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Micronodular cirrhosis, Abnormal granulocyte morphology, Abnormal circulating creat... |
ORPHA:98907 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Glycosur... |
OMIM:616026 |
Leptospirosis |
|
Optic neuritis, Hepatomegaly, Skin rash, Hyperproteinemia, Thrombocytopenia, Hepatitis, Uveitis, ... |
ORPHA:509 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent otitis media, Hepatomegaly, Chronic oral candidiasis, Hemophagocytosis, Splenomegaly, B... |
OMIM:301078 |
Bleeding Disorder, Platelet-Type, 16 |
|
Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Mitochondrial Trifunctional Protein Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k... |
OMIM:609015 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Abnormality of the p... |
ORPHA:69665 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... |
ORPHA:99901 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acetylcarnitine concentration, Decreased 3-hydroxyacyl-CoA dehydrogenase lev... |
ORPHA:71212 |
Congenital Disorder Of Deglycosylation 1 |
|
Hepatomegaly, Elevated alpha-fetoprotein, Elevated hepatic transaminase, Hepatic fibrosis, Hypera... |
OMIM:615273 |
Mevalonic Aciduria |
|
Fluctuating hepatomegaly, Morbilliform rash, Elevated circulating C-reactive protein concentratio... |
OMIM:610377 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Propionic Acidemia |
|
Neutropenia, Pancreatitis, Hepatomegaly, Hyperammonemia, Propionyl-CoA carboxylase deficiency, Ec... |
OMIM:606054 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233710 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Hypoglycemia, Hyperglycinemia, Tubulointe... |
OMIM:251000 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Recurrent skin infections... |
OMIM:612840 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating alkaline phospha... |
OMIM:619534 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circu... |
OMIM:238600 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Incre... |
ORPHA:824 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepati... |
OMIM:212138 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Hepatomegaly, Lymphopenia, Skin rash, Lymphadenitis, Eosinophilia, Hepatos... |
ORPHA:331206 |
Cranioectodermal Dysplasia 1 |
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Hypocalcemia, Hepatomegaly, Hepatic failure, Malformation of the hepatic ductal plate, Hepatic cy... |
OMIM:218330 |
Myh9-Related Disease |
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Neutrophil inclusion bodies, Nephritis, Congenital thrombocytopenia, Increased mean platelet volu... |
ORPHA:182050 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Hypoplasia of the thymus, Peritoneal abscess, Hepatitis, Rectal abscess, Hashimoto thyroiditis, A... |
ORPHA:436252 |
Amoebiasis Due To Entamoeba Histolytica |
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Acute colitis, Elevated circulating alkaline phosphatase concentration, Leukocytosis, Constrictiv... |
ORPHA:67 |
Zygomycosis |
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Splenic abscess, Sinusitis, Colitis, Pancreatitis, Gastritis, Nephritis, Enterocolitis, Pustule, ... |
ORPHA:73263 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Eleva... |
ORPHA:79124 |
Chédiak-Higashi Syndrome |
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Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... |
ORPHA:167 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233690 |
Reynolds Syndrome |
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Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Spleno... |
OMIM:613471 |
Chylomicron Retention Disease |
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Acanthocytosis, Elevated hepatic transaminase, Hypocholesterolemia, Increased hepatocellular lipi... |
ORPHA:71 |
Postinfectious Vasculitis |
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Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated circulating C-reactive pro... |
ORPHA:48435 |
Gaucher Disease |
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Osteomyelitis, Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly,... |
ORPHA:355 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Hepatomegaly, Fair hair, Hepatosplenomegaly, Cholestasis, Congenital hepatic fibrosis, Hepatic fi... |
OMIM:266920 |
Elliptocytosis 1 |
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Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly |
OMIM:611804 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
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Hepatomegaly, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Hyperuricemia, Anemia |
OMIM:246450 |
Arima Syndrome |
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Hepatic fibrosis, Hepatic steatosis, Hepatomegaly |
OMIM:243910 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
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Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormality of... |
OMIM:610131 |
Relapsing Polychondritis |
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Keratitis, Conjunctivitis, Chondritis, Myocarditis, Arthritis, Hepatitis, Uveitis, Recurrent apht... |
ORPHA:728 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
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Hepatic failure, Increased serum pyruvate, Hyperprolinemia, Hyperglutaminemia, Elevated circulati... |
OMIM:619355 |
Hyperlipoproteinemia, Type Id |
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Colitis, Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholestero... |
OMIM:615947 |
Primary Sjögren Syndrome |
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Chronic active hepatitis, Lymphadenopathy, Arthritis, Arteritis, Lymphopenia, Chronic hepatitis, ... |
ORPHA:289390 |
Meckel Syndrome 14 |
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Hepatic fibrosis |
OMIM:619879 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... |
OMIM:262190 |
Bardet-Biedl Syndrome 1 |
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Bone spicule pigmentation of the retina, Left ventricular hypertrophy, Hepatic fibrosis, Biliary ... |
OMIM:209900 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Elevated circulating acylcarnitine concentration, Hepatomegaly, Hyperammonemia, Elevated creatine... |
ORPHA:159 |
Kawasaki Disease |
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Cheilitis, Conjunctivitis, Leukocytosis, Skin rash, Cervical lymphadenopathy, Myocarditis, Cholec... |
ORPHA:2331 |
Cryohydrocytosis |
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Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Cholelithiasis, Bacterial endocarditis, Splenomegaly, Hepatosplenomegaly, Abnormality of the sple... |
ORPHA:2072 |
Mirizzi Syndrome |
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Cholelithiasis, Pancreatitis, Hyperbilirubinemia, Jaundice, Elevated circulating alkaline phospha... |
ORPHA:521219 |
Acute Disseminated Encephalomyelitis |
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Myelitis, Optic neuritis, Viral hepatitis, Herpes simplex encephalitis |
ORPHA:83597 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Elevated hepatic transaminase, Hyperlipidemia |
ORPHA:2089 |
Fanconi Anemia, Complementation Group V |
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Elevated alpha-fetoprotein, Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Short Rib-Polydactyly Syndrome |
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Hepatic fibrosis, Abnormality of the liver, Hepatic cysts |
ORPHA:1505 |
Gamma-Heavy Chain Disease |
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Hepatomegaly, Skin rash, Splenomegaly, Rheumatoid arthritis, Autoimmune thrombocytopenia, Abnorma... |
ORPHA:100026 |
Joubert Syndrome 1 |
|
Hepatic fibrosis |
OMIM:213300 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Elevated circulating C-reactive protein concentration, Hepatomegaly, Eczema, Pancytopenia, Bone m... |
OMIM:615688 |
Acute Liver Failure |
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Hepatocellular necrosis, Skin rash, Hyperammonemia, Elevated hepatic transaminase, Hepatitis, Hep... |
ORPHA:90062 |
Glycogen Storage Disease Ib |
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Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... |
OMIM:232220 |
Simple Cryoglobulinemia |
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Viral hepatitis, Nephritis, Membranoproliferative glomerulonephritis, Arthritis, Chronic lymphati... |
ORPHA:91139 |
Fructose-1,6-Bisphosphatase Deficiency |
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Hepatomegaly, Abnormal enzyme/coenzyme activity, Neonatal hypoglycemia, Hypoglycemia, Elevated he... |
ORPHA:348 |
Common Variable Immunodeficiency |
|