| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Short stature, Failure to thrive, ... |
OMIM:614480 |
| Hemochromatosis, Neonatal |
|
Cholestasis, Hepatic fibrosis, Prolonged neonatal jaundice, Cirrhosis, Increased serum iron, Incr... |
OMIM:231100 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Jaundice, Elevated circulating alpha-fetoprotein concentration, Decreased activity of mitochondri... |
OMIM:251880 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic bri... |
OMIM:619658 |
| Dietary Iron Overload Disease |
|
Peritonitis, Hepatocellular carcinoma, Elevated transferrin saturation, Diabetes mellitus, Hepati... |
ORPHA:139507 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatocellular carcinoma, Delayed puberty, Proteinuria, Hepatic fibrosis, Hepatomegaly, Elevated ... |
ORPHA:369 |
| Gracile Syndrome |
|
Cholestasis, Renal Fanconi syndrome, Decreased transferrin saturation, Intrauterine growth retard... |
ORPHA:53693 |
| Hemochromatosis, Type 2B |
|
Elevated transferrin saturation, Anemia, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transam... |
OMIM:613313 |
| Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Prolonged neonatal jaundice, Increased serum iron, Increased circula... |
ORPHA:446 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Colitis, He... |
OMIM:300635 |
| Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kina... |
OMIM:232400 |
| Cholesteryl Ester Storage Disease |
|
Reduced lysosomal acid lipase activity, Low alkaline phosphatase, Hepatomegaly, Elevated gamma-gl... |
OMIM:278000 |
| Iron Overload, Susceptibility To |
|
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Type II diabetes me... |
OMIM:620121 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Portal fibrosis, Hyperbi... |
OMIM:616278 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatocellular carcinoma, Hyperammonemia, Pancreatitis, Elevated circulating alanine aminotransfe... |
OMIM:603471 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Elevated transferrin saturation, Hypogonadism, Hepatomegaly, Azoospermia, Increased circulating f... |
OMIM:615234 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Neonatal hypoglycemia, Hyperammonemia, Abnormal circulating acetylcarnitin... |
ORPHA:71212 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Hepatosplenomegaly, Cholestatic liver disease, Hemophagocytosis, Granuloma, Hepatic fibrosis, Int... |
OMIM:619858 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Jaundice, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Conjugated ... |
OMIM:616860 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615158 |
| Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Hepatic fibrosis, Elevated hepatic transaminase, Portal fibrosis, El... |
OMIM:619111 |
| Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Hepatomegaly, Elevated hepatic transaminase |
OMIM:606664 |
| Splenoportal Vascular Anomalies |
|
Hyperammonemia, Diabetes mellitus, Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous sys... |
OMIM:271500 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Hepatic bridging fibrosis, Elevated circulating alanine aminotransferase concentration, Portal in... |
OMIM:613759 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hyperammonemia, Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase conce... |
OMIM:201475 |
| Hemochromatosis, Type 5 |
|
Elevated transferrin saturation, Abnormal circulating copper concentration, Increased serum iron,... |
OMIM:615517 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal transferrin saturation, Elevated hepatic i... |
ORPHA:254704 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
| Pediatric Hepatocellular Carcinoma |
|
Elevated circulating alpha-fetoprotein concentration, Hepatic fibrosis, Hepatomegaly, Portal vein... |
ORPHA:33402 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Anemia, Elevated circulating aspartate aminotransferase concentration, Elevated... |
ORPHA:158061 |
| Laurence-Moon Syndrome |
|
Cryptorchidism, Ataxia, Renal insufficiency, Congenital hepatic fibrosis, Short stature, Hypoplas... |
ORPHA:2377 |
| Porphyria Cutanea Tarda |
|
Hepatocellular carcinoma, Stage 5 chronic kidney disease, Chronic hepatitis, Decreased circulatin... |
ORPHA:101330 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Limb ataxia, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Gait ataxia, Hepatic fail... |
OMIM:616719 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Jaundice, Hypercholesterolemia, Elevated circulating aspartate aminotransferase concentration, Ch... |
OMIM:619662 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Fulminant hepatic failure, Hepatic steatosis, Hypoketotic hypoglycemia, De... |
OMIM:231530 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated transferrin saturation, Hypogonadism, Diabetes mellitus, Congenital hepatic fibrosis, El... |
ORPHA:79230 |
| Aceruloplasminemia |
|
Limb ataxia, Ataxia, Diabetes mellitus, Decreased circulating copper concentration, Hepatic fibro... |
ORPHA:48818 |
| Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Hypogonadism, Abnormality of the liver, D... |
ORPHA:231222 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:269600 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hepatic fibrosis, Hyperinsulinemia, Hypertriglyceridemia, Hepatic steatosis, ... |
ORPHA:280356 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Hemophagocytosis, Anemia, Skin rash, Hepatomegaly, Hypertriglyceridemia, Thrombocytopen... |
OMIM:603552 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Intrauterine growth retardation, Failure to thr... |
ORPHA:26792 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Pancreatitis, Elevated circulating... |
OMIM:619386 |
| Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, ... |
OMIM:232700 |
| Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Porphyrinuria |
OMIM:176090 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Increased urine succinate level, Decreased plasma free carnitine, Elevated circulating aspartate ... |
OMIM:619048 |
| Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Subacute progressive viral hepatitis, Micronodular cirrhosis |
OMIM:114550 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Mildly elevated creatine kinase, Gait disturbance, Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
| Barth Syndrome |
|
Abnormality of neutrophils, Abnormal mitochondrial morphology |
ORPHA:111 |
| Neutral Lipid Storage Disease With Myopathy |
|
Difficulty walking, Diabetes mellitus, Hepatomegaly, Elevated hepatic transaminase, Elevated circ... |
OMIM:610717 |
| Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Anemia, Bone-marrow foam cells, Hepatomegaly, Sea-blue h... |
OMIM:607616 |
| Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
| Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... |
ORPHA:64743 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Elevated hepatic iron concentration, Increased serum iron |
OMIM:206100 |
| Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Ductal bile plugs, Jaundice, Elevated circulating aspartate aminotransferase concentration, Intra... |
OMIM:613812 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Hypogonadism, Decreased transferrin saturation, Elevated hepatic transaminase... |
ORPHA:300298 |
| Senior-Loken Syndrome |
|
Stage 5 chronic kidney disease, Ataxia, Chronic kidney disease, Congenital hepatic fibrosis, Neph... |
ORPHA:3156 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Hepatosplenomegaly, Acute hepatic failure, Progressive cerebellar ataxia, Hepatic fibrosis, Gait ... |
ORPHA:466794 |
| Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Aminoaciduria, Growth delay, Splenomegaly, Weight loss |
ORPHA:79238 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Jaundice, Glycosuria, Hepatomegaly, Elevated circulating glutaric acid concentration, Electron tr... |
OMIM:231680 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hydronephrosis, Small for gestational age, Jaundice, Hyperammonemia, Elevated circulating asparta... |
OMIM:617093 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Mildly elevated creatine kinase, Increased mitochondrial number |
ORPHA:457050 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial complex IV, Hyperalaninemia, Decreased activity of mitochondr... |
OMIM:618378 |
| Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Histiocytosis |
OMIM:235900 |
| Mpi-Cdg |
|
Hepatic fibrosis, Hepatomegaly, Portal hypertension, Abnormal circulating enzyme concentration or... |
ORPHA:79319 |
| Caroli Disease |
|
Cholangitis, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cholestasis, Cholestasis, Elevat... |
ORPHA:53035 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly, Hypoglycemia |
OMIM:609016 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatocellular carcinoma, Fasting hypoglycemia, Hepatocellular adenoma, Hypercholesterolemia, Cho... |
ORPHA:370 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Cholestasis, Osteomyelitis leading to amputation due to slow healing fractures, Hepatomegaly, Pro... |
OMIM:256810 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Hypogonadism, Tubulointerstitial nephritis, Cholestasis, Hepatic ... |
OMIM:616629 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Impaired glucose tolerance, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Hepatomegaly, ... |
OMIM:615630 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatocellular carcinoma, Fasting hypoglycemia, Ketotic hypoglycemia, Hepatocellular adenoma, Hyp... |
ORPHA:79240 |
| Adult-Onset Still Disease |
|
Myocarditis, Abnormal circulating lipid concentration, Leukocytosis, Skin rash, Hepatomegaly, Ele... |
ORPHA:829 |
| Nephronophthisis 19 |
|
Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomeg... |
OMIM:616217 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Elevated circulating acylcarnitine concentration, Hepatomegaly, Elevated hepatic ... |
ORPHA:26791 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Hepatocellular adenoma, Hypercholesterolemia, Anemia, Cholestasis, Hepatic ... |
ORPHA:264580 |
| Retinitis Pigmentosa 89 |
|
Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatic fibrosis |
OMIM:618955 |
| Mulibrey Nanism |
|
Short stature, Hepatomegaly, Cachexia, Intrauterine growth retardation |
ORPHA:2576 |
| Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, External genital hypoplasia, Hypogonadism, Renal insufficiency, Hepatic steatosis... |
OMIM:615996 |
| Interstitial Lung And Liver Disease |
|
Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Anemia, Cholestasi... |
OMIM:615486 |
| Donohue Syndrome |
|
Fasting hypoglycemia, Cholestasis, Pancreatic islet-cell hyperplasia, Clitoral hypertrophy, Hepat... |
OMIM:246200 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Aminoaciduria, Growth delay, Elevated hepatic iron concentration, I... |
OMIM:614946 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Increased blood urea nitrogen, Failure to thrive, Hypergonadotropic hypogonadism, E... |
OMIM:617872 |
| X-Linked Lymphoproliferative Disease |
|
Myocarditis, Hemophagocytosis, Fulminant hepatitis, Colitis, Histiocytosis, B lymphocytopenia, De... |
ORPHA:2442 |
| Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Histiocytosis, Skin rash |
ORPHA:157997 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly, Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Granulocytopenia |
OMIM:608898 |
| Citrullinemia Type Ii |
|
Hepatocellular carcinoma, Hypoproteinemia, Enuresis, Decreased body mass index, Acute hyperammone... |
ORPHA:247585 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Jaundice, Extramedullary hematopoiesis, Cholestasis, Hepatomegaly, Prolonged neonatal jaundice, E... |
ORPHA:79303 |
| Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Hemobilia, Jaundice, Liver abscess, Polycythemia, Anemia,... |
ORPHA:88673 |
| Gallbladder Disease 1 |
|
Cholangitis, Jaundice, Cholestasis, Pancreatitis, Bile duct proliferation, Hepatic fibrosis, Elev... |
OMIM:600803 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Renal cyst, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Failure to thrive, Proximal tubulopathy, H... |
OMIM:602579 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Elevated circulating creatine kinase concentratio... |
OMIM:611182 |
| Congenital Enterovirus Infection |
|
Myocarditis, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Hyperammonemia, Anemia, Ch... |
ORPHA:292 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Conju... |
OMIM:607765 |
| Obsolete: Hemochromatosis Type 4 |
|
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hepatic steatosis, Cir... |
ORPHA:139491 |
| 3-Methylglutaconic Aciduria, Type V |
|
Decreased testicular size, Cryptorchidism, Nonprogressive cerebellar ataxia, Elevated circulating... |
OMIM:610198 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Enlarged kidney, Renal cyst, Hepatic brid... |
OMIM:619902 |
| Parenteral Nutrition-Associated Cholestasis |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Conjugated hy... |
ORPHA:567983 |
| Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Cryptorchidism, Hypogonadism, Hepatic fibrosis, Short stature, Nephrotic... |
ORPHA:110 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Cholestatic liver disease, Hyperchol... |
OMIM:616828 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Hemophagocytosis, Anemia, Acute lymphoblastic leuke... |
ORPHA:158057 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
| Undifferentiated Pleomorphic Sarcoma |
|
Abnormality of the peritoneum, Weight loss |
ORPHA:2023 |
| Wilson Disease |
|
Acute hepatic failure, Acute hepatitis, Jaundice, Anemia, Hepatomegaly, Elevated hepatic transami... |
ORPHA:905 |
| Carcinoid Syndrome |
|
Abnormal B-type natriuretic peptide concentration, Elevated hepatic transaminase, Hepatic necrosis |
ORPHA:100093 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Elevated hepatic transaminase, Periportal fibrosis, Conjugated hyperbil... |
OMIM:619484 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Gait disturbance, Slender build, Difficulty walking, Elevated creatine kinase after exercise, Dec... |
ORPHA:352470 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Small for gestational age, Clitoral hypertrophy, Hepatic fibrosis, Hepatomega... |
OMIM:606003 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Abnorm... |
ORPHA:848 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Proteinuria, Abnormal circulating lipid concentration, Diabetes mellitus, Polycystic ovaries, Nep... |
OMIM:608709 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic failure, Hepatic steatosis, Impaired gluconeogenesis |
OMIM:261650 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Jaundice, Hepatic failure, Hepatomegaly |
ORPHA:60 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Leukocytosis, Inflammation of the large intestine, Anemia, Cholestasis, Hepatic ... |
OMIM:615895 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Hepatomegaly, Elevated hepatic transaminase, Micronodular cirrhosis, Hepatic steatosis,... |
OMIM:301045 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Ataxia, Hepatomegaly, Cachexia, Elevated circulating creatine kinase concentratio... |
ORPHA:42 |
| Bacterial Toxic-Shock Syndrome |
|
Peritonitis, Myocarditis, Elevated circulating creatine kinase concentration, Increased circulati... |
ORPHA:36234 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Cholestasis, Hepatic fibrosis, Prolonged neonatal jaundice, Hypokalemia, Failure to ... |
OMIM:619377 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Fulminant hepatitis, Infectious... |
OMIM:308240 |
| Dpm1-Cdg |
|
Hepatosplenomegaly, External genital hypoplasia, Ataxia, Hepatic fibrosis, Elevated hepatic trans... |
ORPHA:79322 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Decreased activity of mitochondrial complex I, Hepatomegaly, Macrovesicular hepatic steatosis, Fa... |
OMIM:618234 |
| Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Ataxia, Weight loss |
ORPHA:98293 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Polycystic ovaries, Pancreatitis, Hepatomegaly, Hyperinsulinemia, Hepatic stea... |
ORPHA:79084 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Abnormally low T cell receptor excision circle level, Portal hypertension, Hepatic fibrosis, Panc... |
OMIM:617341 |
| Carnitine Deficiency, Systemic Primary |
|
Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulati... |
OMIM:212140 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Elevated hepatic transaminase, Hepatic steatosis, Decrea... |
OMIM:616829 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Jaundice, Cholestatic liver disease, Elevated hepatic transaminase, Conjugated hyperbilirubinemia... |
OMIM:208085 |
| Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Abnormal mitochondrial morphology, Elevated circulating tiglylglycine concentration |
OMIM:300438 |
| Sclerosing Cholangitis, Neonatal |
|
Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep... |
OMIM:617394 |
| Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
| Leishmaniasis |
|
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Elevated hepatic transaminase, ... |
ORPHA:507 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Hypercholesterolemia, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619868 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Chronic otitis media, Anemia, Skin rash, Arthritis, Hepati... |
ORPHA:47 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Inability to walk, Ataxia, Decreased activity of mitochondrial complex IV, Failure to thrive, Hep... |
ORPHA:70472 |
| Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Obesity |
OMIM:620195 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Jaundice, Hyperammonemia, Cholestasis, Hepatic bridging fibrosis, Hepatome... |
OMIM:618641 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Elevated hepatic transaminase, Elevated circulating creatine kinase co... |
ORPHA:79095 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Hepatomegaly, Histiocytosis, Abnormal biliary tract morphology, Cholelithiasis, Hepa... |
ORPHA:171 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Jaundice, Cholestatic liver disease, Glycosuria, Hepatomegaly, Elevated hepatic transaminase, Con... |
OMIM:613404 |
| Bile Acid Malabsorption, Primary, 2 |
|
Decreased circulating chenodeoxycholic acid concentration, Elevated circulating aspartate aminotr... |
OMIM:619481 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615595 |
| Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Weight loss |
ORPHA:86893 |
| Hemochromatosis, Type 4 |
|
Elevated transferrin saturation, Impaired glucose tolerance, Diabetes mellitus, Hepatomegaly, Cir... |
OMIM:606069 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lymphopenia, Chronic oral candi... |
ORPHA:169160 |
| Avian Influenza |
|
Leukopenia, Elevated hepatic transaminase, Lymphopenia, Elevated circulating creatine kinase conc... |
ORPHA:454836 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Hyperammonemia, Hepatomegaly, Hyperornithinemia, Decreased liver function, Homoc... |
OMIM:238970 |
| Caroli Syndrome |
|
Leukocytosis, Hepatomegaly, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosphat... |
ORPHA:480520 |
| Idiopathic Copper-Associated Cirrhosis |
|
Copper accumulation in liver, Increased circulating copper concentration, Cirrhosis, Hepatic stea... |
ORPHA:209919 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Hepatocellular carcinoma, Jaundice, Cholestatic liver disease, Pancreatitis, Elevated hepatic tra... |
ORPHA:65682 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Griscelli Syndrome |
|
Jaundice, Abnormal circulating lipid concentration, Leukopenia, Abnormality of neutrophils, Hepat... |
ORPHA:381 |
| Autosomal Agammaglobulinemia |
|
Chronic otitis media, Skin rash, Arthritis, Hepatitis, Sinusitis, Recurrent skin infections, Bron... |
ORPHA:33110 |
| Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Diffuse hepatic steatosis, Glomerulonephriti... |
ORPHA:2137 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Anemia, Autoimmune thrombocytopenia, Neutropenia, Arthritis, Eosinophilia, He... |
OMIM:304790 |
| Coach Syndrome 1 |
|
Stage 5 chronic kidney disease, Ataxia, Renal cyst, Hepatic fibrosis, Hepatomegaly, Elevated hepa... |
OMIM:216360 |
| Immunodeficiency 47 |
|
Leukopenia, Normocytic anemia, Elevated circulating aspartate aminotransferase concentration, Cho... |
OMIM:300972 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Diabetes mellitus, Hepatomegaly, Short stature, Splenomegaly, Hypertriglyceri... |
OMIM:612526 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Acute hepatic failure, Maculopapular exanthema, Hemophagocytosis, Hepatomegal... |
OMIM:619644 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Recurrent otitis media, Re... |
OMIM:617585 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatosplenomegaly, Cholestasis, Diabetes mellitus, Hepatic fibrosis, Elevated hepatic transamina... |
ORPHA:541423 |
| Nephronophthisis 16 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Cholestasis, Renal ... |
OMIM:615382 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Severe short-limb dwarfism, Hepatic steatosis, Insulin-resistant diabetes m... |
ORPHA:436182 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Proteinuria, Micropenis, Stage 5 chronic kidney disease, Renal insufficiency,... |
OMIM:619487 |
| Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent pneumonia, Chronic active hepatitis, Recurrent sinusitis |
OMIM:614379 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating aspartate aminotransferase concentration, Chronic hepatitis, Intrahepatic ch... |
OMIM:614921 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Hepatome... |
OMIM:214950 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
| Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Abnormality of the pancreas |
ORPHA:3032 |
| Isolated Biliary Atresia |
|
Hypopituitarism, Small for gestational age, Jaundice, Cholestasis, Bile duct proliferation, Atret... |
ORPHA:30391 |
| Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Multicystic kidney dysplasia, Malformati... |
OMIM:607361 |
| Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Anisocytosis, Hepatocellular carcinoma, Jaundice, Extramedullary hematopoiesi... |
ORPHA:231226 |
| Argininosuccinic Aciduria |
|
Oroticaciduria, Hypoargininemia, Hyperammonemia, Hyperglutaminemia, Elevated circulating aspartat... |
OMIM:207900 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Delayed puberty, Shawl scrotum, Ataxia, Diabetes mellitus, Hepatic fibrosis, Hepatomegaly, Short ... |
OMIM:616263 |
| Graft Versus Host Disease |
|
Hepatosplenomegaly, Acute hepatitis, Jaundice, Gastrointestinal inflammation, Inflammatory abnorm... |
ORPHA:39812 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Colitis, Hypertriglyceridemia, Thrombocytopenia, In... |
OMIM:613101 |
| Primary Biliary Cholangitis |
|
Hepatocellular carcinoma, Gastrointestinal inflammation, Jaundice, Abnormal circulating lipid con... |
ORPHA:186 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczematoid dermatitis, Inflammatory abnormality of the skin, Colitis, Gastritis, Crusting erythem... |
ORPHA:37042 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia in presence of anti-neutropil antibodies, Acute otitis media, Skin rash, Autoimmune t... |
ORPHA:572 |
| Mu-Heavy Chain Disease |
|
Bence Jones Proteinuria, Hepatomegaly, Nephropathy, Splenomegaly, Weight loss |
ORPHA:100024 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Jaundice, Hashimoto thyroiditis, Fulminant hepatitis, Hepatomegaly, Elevated hepatic transaminase... |
OMIM:618549 |
| Hemochromatosis, Type 3 |
|
Elevated transferrin saturation, Anemia, Elevated hepatic transaminase, Lymphopenia, Cirrhosis, A... |
OMIM:604250 |
| Liver Disease, Severe Congenital |
|
Peritonitis, Elevated circulating alpha-fetoprotein concentration, Hyperalaninemia, Hepatomegaly,... |
OMIM:619991 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Aplastic anemia, Anemia, Lymphopenia, Cirrhosis, Increased mean corpuscular volume, T... |
OMIM:127550 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss |
ORPHA:2198 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Granuloma, Colitis, Hepatosplenomegaly, Lymphopenia, Thrombocytopenia, Elevated... |
OMIM:619802 |
| Joubert Syndrome 9 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease |
OMIM:612285 |
| Cholestasis-Lymphedema Syndrome |
|
Jaundice, Neonatal cholestatic liver disease, Erysipelas, Hepatomegaly, Elevated hepatic transami... |
OMIM:214900 |
| Patent Ductus Venosus |
|
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Jaundice, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Portal hypertensi... |
OMIM:607626 |
| Adams-Oliver Syndrome 6 |
|
Portal hypertension, Hepatic fibrosis, Splenomegaly |
OMIM:616589 |
| Preeclampsia |
|
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Thrombocytopenia, Type I d... |
ORPHA:275555 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Myocarditis, Tubulointerstitial nephritis, Skin rash, Elevated hepatic tra... |
ORPHA:139402 |
| Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
| Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... |
ORPHA:411593 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated circulating aspartate aminotransferase concentration, Tubulointerstitial nephritis, Elev... |
OMIM:614582 |
| Congenital Isolated Acth Deficiency |
|
Neonatal hypoglycemia, Prolonged neonatal jaundice, Hypoglycemic seizures, Hyperkalemia, Hepatiti... |
ORPHA:199296 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Neonatal hypoglycemia, Hypernatriuria, Elevated circulating follicle stimulating... |
ORPHA:168558 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Interface hepatitis, Cholestatic liver disease, Inflammation of the large intestine, Granulomatou... |
ORPHA:562639 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Neonatal hypoglycemia, Hypernatriuria, Elevated circulating follicle stimulating... |
ORPHA:289548 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Micropenis, Hepatomegaly, Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic iron conc... |
OMIM:300868 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Salmonella osteomyelitis, Histiocytosis, Pneumonia, Thr... |
OMIM:209950 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Medium chain dicarboxylic aciduria, Hepatomegaly, Elevated hepatic transaminase, Hepatic steatosi... |
OMIM:201450 |
| Beta-Thalassemia Major |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Anisopoikilocytosis, Extramedullary hemat... |
ORPHA:231214 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Stomatitis, Chronic hepatitis, Hemolytic anemia, Hepatomegaly, Enteroviral encephalitis, Cirrhosi... |
OMIM:308230 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperthreoninemia, Conjugated hyperbilirubinemia, Hypertyrosinemia, Elevated circulating alanine ... |
OMIM:605814 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Rotor Syndrome |
|
Jaundice, Intermittent jaundice, Porphyrinuria, Conjugated hyperbilirubinemia, Hyperbilirubinemia... |
ORPHA:3111 |
| Senior-Boichis Syndrome |
|
Hepatosplenomegaly, Anemia, Cholestasis, Congenital hepatic fibrosis, Elevated hepatic transamina... |
ORPHA:84081 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Enlarged kidney, ... |
OMIM:263200 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex IV, Bradykinesia, Hyperglycinemia, Lacticaciduria, In... |
OMIM:619063 |
| Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Polycystic kidney dysplasia, Biliary cirrhosis, Stage 5 chronic kidney disease, Asplenia, Enlarge... |
OMIM:208540 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Diabetes mellitus, Elevated circulating creatine kinase... |
OMIM:615980 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Jaundice, Cholestatic liver disease, Maculopapular exanthema, Hemophagocytosis, Anemia, Skin rash... |
ORPHA:540 |
| Acquired Partial Lipodystrophy |
|
Microscopic hematuria, Proteinuria, Hepatic steatosis, Insulin resistance |
ORPHA:79087 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Decreased activity of mitochondrial complex IV, Elevated circulating creatine kinase conc... |
OMIM:618835 |
| Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Polycystic ovaries, Clitoral hypertrophy, Precocious puberty in females, Hepat... |
ORPHA:528 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Decreased activity of mitochondrial complex IV, Elevated circulating creatine kinase conc... |
OMIM:618839 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatosplenomegaly, Acute hepatic failure, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:228426 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... |
OMIM:264470 |
| Trichohepatoenteric Syndrome 1 |
|
Renal cortical microcysts, Small for gestational age, Jaundice, Cholestasis, Galactosuria, Hepati... |
OMIM:222470 |
| Congenital Myopathy 11 |
|
Patent ductus arteriosus, Abnormal activity of mitochondrial respiratory chain, Elevated hepatic ... |
OMIM:619967 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulati... |
OMIM:255120 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Decreased activity of mitochondrial complex IV, Cachexia, Decreased activi... |
OMIM:613662 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Elevated hepatic transaminase, Cirrhosis, Bronchiectasis, Reduced serum... |
OMIM:613490 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Decreased activity of mitochondrial complex IV, Cachexia, Failure to thrive, Gait ataxia, Proxima... |
OMIM:612075 |
| Ddost-Cdg |
|
Elevated hepatic transaminase, Short stature, Failure to thrive, Hepatic steatosis, Nephrotic ran... |
ORPHA:300536 |
| Inflammatory Pseudotumor Of The Liver |
|
Biliary tract abnormality, Abnormal liver sonography, Neoplasm of the liver, Elevated circulating... |
ORPHA:90003 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Cystic renal dysplasia, H... |
OMIM:615415 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic hypoplasia, Cholestasis, Diabetes mellitus, Hepatic fibrosis, Hepatomegaly, Hepatitis,... |
OMIM:610199 |
| Relapsing Fever |
|
Jaundice, Leukocytosis, Leukopenia, Anemia, Elevated hepatic transaminase, Increased circulating ... |
ORPHA:91547 |
| Griscelli Syndrome Type 2 |
|
Jaundice, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Pancytopenia, Splenomegaly, Neutropenia |
ORPHA:79477 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cholangitis, Tubulointerstitial nephritis, Cholestasis, Hypertyrosinemia, Recurrent hypoglycemia,... |
OMIM:124000 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Sinusitis, Thrombocytopenia, Monocy... |
OMIM:226990 |
| Carcinoma Of Esophagus |
|
Weight loss, Obesity |
ORPHA:70482 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Decreased plasma free carnitine, Reduced carnitine O-palmitoyltransferase level, Elevated circula... |
ORPHA:228305 |
| Wilson Disease |
|
Hemolytic anemia, Hypouricemia, Hepatomegaly, Osteoarthritis, Acute hepatic failure, Elevated cir... |
OMIM:277900 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Proteinuria, Ataxia, Renal cyst, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, N... |
OMIM:212065 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Micropenis, Ambiguous genitalia, Abnormal vas deferens morphology, Abnormal inter... |
ORPHA:755 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Hyperuricemia, Polycystic ovaries, Cirrhosis, Hyperinsulinemia, Hypertriglycer... |
OMIM:604367 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Delayed puberty, Abnormality of the Leydig cells, Micropenis, Elevated circulating follicle stimu... |
OMIM:228300 |
| Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Ataxia, Bile duct proliferation, Hepatic fibrosis, Nephronophthisis |
OMIM:610688 |
| Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Anemia, Cholestasis, Postprandial hyperglycemia, Hepatitis, Portal hyp... |
ORPHA:440713 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:618278 |
| Trichohepatoenteric Syndrome 2 |
|
Chronic hepatitis, Hepatomegaly, Colitis, Cirrhosis, Decreased serum iron |
OMIM:614602 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Cholestasis, Elevated circulating alanine aminotransferase concentration, Hypermethioninemia, Ele... |
OMIM:614300 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Homocystinuria... |
OMIM:614857 |
| Huntington Disease-Like 2 |
|
Gait disturbance, Weight loss |
ORPHA:98934 |
| Adrenomyodystrophy |
|
Short stature, Hepatic steatosis, Megacystis, Failure to thrive |
ORPHA:977 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... |
ORPHA:2585 |
| Bardet-Biedl Syndrome 1 |
|
Biliary tract abnormality, Decreased testicular size, Micropenis, Hypogonadism, Ataxia, Abnormali... |
OMIM:209900 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Weight loss |
ORPHA:66661 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Aminoaciduria, Hepatic failure, Splenomegaly, Hypoglycemia |
ORPHA:664 |
| Aspergillosis |
|
Eosinophilia, Hepatitis, Sinusitis, Infectious encephalitis, Bronchiectasis, Pneumonia, Osteomyel... |
ORPHA:1163 |
| Lysosomal Acid Lipase Deficiency |
|
Vacuolated lymphocytes, Hepatosplenomegaly, Jaundice, Anemia, Bone-marrow foam cells, Fatal liver... |
ORPHA:275761 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hyperalaninemia, Elevated hepatic transaminase, Cachexia, Cirrhosis, Hypergonadotropic hypogonadi... |
ORPHA:298 |
| Ataxia-Telangiectasia |
|
Delayed puberty, Gait disturbance, Ataxia, Diabetes mellitus, Polycystic ovaries, Elevated hepati... |
ORPHA:100 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Biliary tract abnormality, Cholangitis, Chronic mucocutaneous candidiasis, Colitis, Infectious en... |
OMIM:209920 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating aspartate aminotransferase concentration, Cholestasis, Decreased activity of... |
OMIM:614924 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Cholestasis, Cholesterol gallstones, Hepatitis, Hypertri... |
ORPHA:209902 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hyperammonemia, Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated... |
OMIM:600649 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatocellular carcinoma, Elevated transferrin saturation, Testicular atrophy, Diabetes mellitus,... |
ORPHA:465508 |
| Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Weight loss |
ORPHA:42642 |
| Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Maculopapular exanthema, Leukemia, Histiocytosis, Elevated total serum tryptase |
ORPHA:157991 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Hypertriglyceridemia, Gait ataxia, Hepatic ste... |
ORPHA:363400 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hypertriglyceridemia, H... |
OMIM:306000 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Jaundice, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis,... |
OMIM:267700 |
| Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Bile duct proliferation, Hepatomegaly, Elevated hepatic transaminase, Cirrh... |
OMIM:613027 |
| Dystonia 31 |
|
Abnormal posturing, Difficulty walking |
OMIM:619565 |
| Legionnaires Disease |
|
Myocarditis, Jaundice, Endocarditis, Pancreatitis, Lymphopenia, Hyponatremia, Hepatitis, Infectio... |
ORPHA:549 |
| Acute Liver Failure |
|
Jaundice, Hyperammonemia, Skin rash, Elevated hepatic transaminase, Hepatitis, Thrombocytopenia, ... |
ORPHA:90062 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Aplastic anemia, Hepatic fibrosis, Thrombocytopenia, Pancytopenia, Neutropenia |
OMIM:613989 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Elevated h... |
ORPHA:79301 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Lethargy, Hypercalciuria, Failure to thrive, Medullary nephrocalcinosis, Nephro... |
OMIM:143880 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... |
OMIM:618528 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Failure to thrive, Ketonuria, Elevated urinary 3-methylcrotonylglycine leve... |
OMIM:210200 |
| Meckel Syndrome, Type 6 |
|
Renal cyst, Horseshoe kidney, Bile duct proliferation, Hepatic fibrosis, Abnormal internal genita... |
OMIM:612284 |
| Abetalipoproteinemia |
|
Ataxia, Broad-based gait, Decreased LDL cholesterol concentration, Steppage gait, Hepatic fibrosi... |
ORPHA:14 |
| Pleural Mesothelioma |
|
Hepatomegaly, Weight loss |
ORPHA:50251 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Skin rash, H... |
OMIM:603553 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Hypersegmentation of neutrophil nuclei, Decreased activity of mitochondrial complex I, Macrocytic... |
OMIM:615578 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Recurrent aphthous stomatitis, Autoimmune hemolytic anemia, Hepatomegaly, Chron... |
OMIM:301078 |
| Huntington Disease-Like 1 |
|
Gait disturbance, Bradykinesia, Gait ataxia, Abnormal posturing, Weight loss, Dysmetria |
ORPHA:157941 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hyperammonemia, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating branched chain ... |
ORPHA:2394 |
| Immunodeficiency 56 |
|
Cholangitis, Hepatic failure, Cirrhosis, Recurrent otitis media, Recurrent pneumonia, Bronchiecta... |
OMIM:615207 |
| Niemann-Pick Disease, Type A |
|
Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cells, Elevated c... |
OMIM:257200 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hyperprolinemia, Hepatic steatosis |
OMIM:615918 |
| Cystic Echinococcosis |
|
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, Re... |
ORPHA:400 |
| Solitary Fibrous Tumor |
|
Abnormality of the peritoneum, Uterine neoplasm, Neoplasm of the liver, Urinary retention, Abnorm... |
ORPHA:2126 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Hyperammonemia, Elevated circulating acylcarnitine concentration, Elevated... |
ORPHA:99901 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Elevated hepatic transaminase, Glucose intolerance, Abnormality of iron homeostasis, Sple... |
ORPHA:75563 |
| Farber Disease |
|
Hepatosplenomegaly, Anemia, Intrahepatic cholestasis with episodic jaundice, Hepatic fibrosis, El... |
ORPHA:333 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Anemia, Hyperproteinemia, Hepatomegaly, Elevated hepatic transaminase, Hypertri... |
ORPHA:158048 |
| Nephronophthisis 3 |
|
Enuresis, Stage 5 chronic kidney disease, Renal insufficiency, Renal corticomedullary cysts, Hepa... |
OMIM:604387 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormality of the peritoneum, Neoplasm of the pancreas, Hepatomegaly, Cachexia, Ovarian neoplasm... |
ORPHA:83469 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, ... |
OMIM:261680 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Neonatal hypoglycemia, Truncal obesity, Nonketotic hypoglycemia, Hypoglycemic seizures, Increased... |
ORPHA:293964 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Anemia, Elevated hepatic transaminase, Elevated circulating C-reactive protein con... |
ORPHA:54251 |
| Fumarase Deficiency |
|
Polycythemia, Intrahepatic cholestasis, Mitochondrial swelling, Hyperbilirubinemia, Aminoaciduria... |
OMIM:606812 |
| Glycogen Storage Disease Ixb |
|
Hyperuricemia, Hepatomegaly, Splenomegaly, Hypoglycemia, Increased hepatic glycogen content |
OMIM:261750 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia, Cholelithiasis, Increased erythrocyte protoporphyrin concentration, Eleva... |
OMIM:300752 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Elevated circulating fumarate concentration, Hyperalaninemia, Elevated hepatic tr... |
OMIM:615160 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Jaundice, 3-hydroxydicarboxylic aciduria, Mitochondrial respiratory chain ... |
OMIM:613070 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Keratoconjunctivitis, Asplenia, Chronic hepatitis, Chronic mucocutaneous candidiasis, Cirrhosis, ... |
OMIM:269200 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyperuricemia, Hashimoto thyroiditis, Macrocytic anemia, Eosinophilia, Hepatit... |
ORPHA:199299 |
| Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Elevated carcinoembryonic antigen level, Weight loss |
ORPHA:100083 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Ataxia, Weight loss |
ORPHA:391 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, E... |
OMIM:602347 |
| Fanconi-Bickel Syndrome |
|
Nephrocalcinosis, Diabetes mellitus, Hepatomegaly, Increased hepatic glycogen content, Impaired g... |
ORPHA:2088 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Renal cyst, Hepatic fibrosis, Short stature, Renal hypoplasia, Hypos... |
OMIM:614091 |
| Juvenile Huntington Disease |
|
Progressive cerebellar ataxia, Ataxia, Bradykinesia, Gait ataxia, Broad-based gait, Weight loss |
ORPHA:248111 |
| Lymphoproliferative Syndrome 2 |
|
Hepatosplenomegaly, Aplastic anemia, Hemophagocytosis, Uveitis, Hepatomegaly, Recurrent pneumonia... |
OMIM:615122 |
| Hardikar Syndrome |
|
Cholestasis, Hydroureter, Hepatomegaly, Prolonged neonatal jaundice, Decreased liver function, In... |
OMIM:301068 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Cryptorchidism, Diabetes mellitus, Elevated circulating alanine aminotransferase concentration, H... |
OMIM:615381 |
| Melioidosis |
|
Lung abscess, Liver abscess, Osteoarthritis, Parotitis, Hepatitis, Septic arthritis, Foot osteomy... |
ORPHA:31202 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hepatic steatosis, Insulin resistance |
OMIM:613877 |
| Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
| Q Fever |
|
Hepatosplenomegaly, Myocarditis, Maculopapular exanthema, Endocarditis, Anemia, Abnormality of th... |
ORPHA:781 |
| Follicular Lymphoma |
|
Abnormality of the peritoneum, Splenomegaly, Weight loss |
ORPHA:545 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hashimoto thyroiditis, Hepatomegaly, Hepatitis, Portal hypertension, Hypersplenism, Pancytopenia,... |
OMIM:613385 |
| Cryoglobulinemic Vasculitis |
|
Abnormality of the liver, Keratoconjunctivitis sicca, Hepatomegaly, Arthritis, Splenomegaly, Vira... |
ORPHA:91138 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Eczematoid dermatitis, Decreased activity of NADPH oxidase, Liver abscess, Granulomatosis, Impair... |
OMIM:233690 |
| Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia, Hepatomegaly, Propionyl-CoA carboxylase deficiency |
ORPHA:35 |
| Syndromic Diarrhea |
|
Hypoplasia of the thymus, Polycystic kidney dysplasia, Small for gestational age, Abnormality of ... |
ORPHA:84064 |
| Barth Syndrome |
|
Cyclic neutropenia, Hypochromic microcytic anemia, Abnormal mitochondrial morphology, Granulocyto... |
OMIM:302060 |
| Rhabdoid Tumor |
|
Hypercalcemia, Hematuria, Neoplasm of the liver, Weight loss |
ORPHA:69077 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Jaundice, Cholestasis, Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic a... |
OMIM:617156 |
| Nephronophthisis 11 |
|
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Hepatic fibrosis, Nephronophthisis,... |
OMIM:613550 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Unsteady gait, Methylmalonic acidemia, Hypoglycemia, Decreased activity of mitochondrial complex ... |
ORPHA:17 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Hepatosplenomegaly, Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Portal... |
ORPHA:210136 |
| Sea-Blue Histiocytosis |
|
Blepharitis, Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypopituitarism, Elevated hepatic transaminase, Short stature, Hypertriglycer... |
OMIM:619013 |
| Alstrom Syndrome |
|
Hyperuricemia, Chronic active hepatitis, Tubulointerstitial nephritis, Hepatomegaly, Elevated hep... |
OMIM:203800 |
| Propionic Acidemia |
|
Hyperammonemia, Propionyl-CoA carboxylase deficiency, Anemia, Pancreatitis, Hepatomegaly, Thrombo... |
OMIM:606054 |
| Biliary Atresia, Extrahepatic |
|
Jaundice, Extrahepatic biliary duct atresia, Bile duct proliferation, Atretic gallbladder, Hepato... |
OMIM:210500 |
| Joubert Syndrome With Hepatic Defect |
|
Gait disturbance, Neoplasm of the liver, Ataxia, Renal insufficiency, Congenital hepatic fibrosis... |
ORPHA:1454 |
| Central Diabetes Insipidus |
|
Failure to thrive, Nocturia, Lethargy, Hyponatremia, Weight loss |
ORPHA:178029 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Leukopenia, Aplasia/Hypoplasia of the spleen, Hashimoto thyroiditis, Tubulointerstitial nephritis... |
ORPHA:227990 |
| Budd-Chiari Syndrome |
|
Peritonitis, Acute hepatic failure, Jaundice, Hepatomegaly, Elevated hepatic transaminase, Cirrho... |
ORPHA:131 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Growth delay, Hepatosplenomegaly, Redu... |
ORPHA:731 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Gait disturbance, Inability to walk, Tip-toe gait, Abnormal posturing, Weight loss |
ORPHA:216866 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Periportal fibrosis, Bicornuate uterus |
OMIM:263210 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Jaundice, Hepatic failure, Elevated hepatic transaminase |
OMIM:143500 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Hyperammonemia, Decreased activity of mitochondrial complex IV, Decreased activity of mitochondri... |
OMIM:616672 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
| Ebola Hemorrhagic Fever |
|
Maculopapular exanthema, Leukopenia, Lymphopenia, Hepatitis, Acute pancreatitis, Thrombocytopenia |
ORPHA:319218 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Colitis, Gastritis, Decreased proportion of CD4-positive helper T cells, Reticulocy... |
ORPHA:3261 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Leukopenia, Aplasia/Hypoplasia of the spleen, Hashimoto thyroiditis, Tubulointerstitial nephritis... |
ORPHA:227982 |
| Myasthenia Gravis |
|
Hemolytic anemia, Hashimoto thyroiditis, Pure red cell aplasia, Glycosuria, Hepatitis, Rheumatoid... |
ORPHA:589 |
| Klatskin Tumor |
|
Jaundice, Hepatomegaly, Cholangiocarcinoma, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hepatocellular carcinoma, Cholangitis, Liver abscess, Neoplasm of the liver, Intrahepatic cholest... |
ORPHA:69663 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Difficulty walking, Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated he... |
ORPHA:369840 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatic steatosis, Insuli... |
ORPHA:79085 |
| Arima Syndrome |
|
Polycystic kidney dysplasia, Proteinuria, Stage 5 chronic kidney disease, Ataxia, Hepatic fibrosi... |
OMIM:243910 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Failure to thrive, Hypert... |
ORPHA:71 |
| Hemochromatosis, Type 1 |
|
Hepatocellular carcinoma, Diabetes mellitus, Hepatomegaly, Elevated hepatic transaminase, Cirrhos... |
OMIM:235200 |
| Aromatase Deficiency |
|
Cryptorchidism, Eunuchoid habitus, Hypergonadotropic hypogonadism, Ambiguous genitalia, female, H... |
ORPHA:91 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Jaundice, Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Elevated... |
OMIM:617049 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Cholestasis, Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine... |
ORPHA:247598 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Diffuse hepatic steatosis, Proteinuria, Gait disturbance, Glycosuria, Ataxia, Renal Fanconi syndr... |
ORPHA:436271 |
| Peroxisome Biogenesis Disorder 1B |
|
Renal cyst, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Hyperoxaluria |
OMIM:601539 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Jaundice, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis, Bile duct proliferation, He... |
OMIM:208500 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Ataxia, Difficulty walking, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulating cre... |
ORPHA:98907 |
| Gracile Syndrome |
|
Cholestasis, Intrauterine growth retardation, Increased serum iron, Aminoaciduria, Increased circ... |
OMIM:603358 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Interface hepatitis, Impaired lymphocyte transformation with phytohemag... |
OMIM:243150 |
| Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Abnormal testis morphology, Short stature, Weight loss |
ORPHA:317 |
| Lysinuric Protein Intolerance |
|
