Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Glycogen Storage Disease Vi |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Chylomicron Retention Disease |
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Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
Low Phospholipid-Associated Cholelithiasis |
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Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... |
ORPHA:69663 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia |
OMIM:610539 |
Hypobetalipoproteinemia, Familial, 1 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Pancreatic Lipase Deficiency |
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Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
Hypertriglyceridemia 2 |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Gallbladder Disease 1 |
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Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Peroxisome Biogenesis Disorder 3B |
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Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... |
OMIM:266510 |
Congenital Disorder Of Glycosylation, Type Iip |
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Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Chylomicron Retention Disease |
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Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste... |
ORPHA:71 |
Congenital Disorder Of Glycosylation, Type Iio |
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Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Morbid Obesity And Spermatogenic Failure |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
Biliary Atresia, Extrahepatic |
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Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Cholesteryl Ester Storage Disease |
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Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Potocki-Lupski Syndrome |
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Failure to thrive, Small for gestational age, Hypocholesterolemia |
OMIM:610883 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Squalene Synthase Deficiency |
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Failure to thrive in infancy, Increased circulating farnesol concentration, Decreased LDL cholest... |
OMIM:618156 |
Glycogen Storage Disease Ixa1 |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... |
OMIM:306000 |
Hypercholesterolemia, Familial, 4 |
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Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Budd-Chiari Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis |
OMIM:235700 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Pyruvate Kinase Deficiency Of Red Cells |
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Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hyperbilirubinemia, Cholelithia... |
OMIM:266200 |
Hyperbiliverdinemia |
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Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis |
OMIM:614156 |
Hyperlipidemia, Familial Combined, 3 |
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Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Apolipoprotein C-Ii Deficiency |
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Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Cholesteryl Ester Storage Disease |
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Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos... |
OMIM:278000 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hepatomegaly, Hypocholesterolemia |
OMIM:618810 |
Somatostatinoma |
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Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... |
ORPHA:97283 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
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Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
Parenteral Nutrition-Associated Cholestasis |
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Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... |
ORPHA:567983 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Abetalipoproteinemia |
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Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Failure to ... |
ORPHA:14 |
Metachromatic Leukodystrophy |
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Gallbladder dysfunction, Cholecystitis |
OMIM:250100 |
Congenital Disorder Of Glycosylation, Type Ia |
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Elevated hepatic transaminase, Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Steatorrhea, Hypo... |
OMIM:212065 |
Intrahepatic Cholestasis Of Pregnancy |
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Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ... |
ORPHA:69665 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
Gallbladder Neuroendocrine Tumor |
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Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... |
ORPHA:100086 |
Hyperlipoproteinemia, Type I |
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Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Glycogen Storage Disease Xii |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate... |
OMIM:611881 |
Alg12-Cdg |
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Hyponatremia, Elevated hepatic transaminase, Hypoalbuminemia, Hypocholesterolemia, Failure to thrive |
ORPHA:79324 |
Tangier Disease |
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Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Secondary Intestinal Lymphangiectasia |
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Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypocholesterolemia, D... |
ORPHA:90363 |
Rett Syndrome |
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Increased serum pyruvate, Failure to thrive, Cholecystitis, Hyperammonemia |
ORPHA:778 |
Fucosidosis |
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Hepatomegaly, Failure to thrive, Abnormality of the gallbladder |
ORPHA:349 |
Kaufman Oculocerebrofacial Syndrome |
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Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
Gaisböck Syndrome |
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Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Increased circulating ... |
ORPHA:90041 |
Triosephosphate Isomerase Deficiency |
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Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis, Failure to th... |
OMIM:615512 |
Neutral Lipid Storage Myopathy |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Obesity,... |
ORPHA:98908 |
Triploidy |
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Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas |
ORPHA:3376 |
Smith-Lemli-Opitz Syndrome |
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Hepatomegaly, Splenomegaly, Cholestatic liver disease, Hypoalbuminemia, Elevated circulating 7-de... |
OMIM:270400 |
Peutz-Jeghers Syndrome |
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Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder |
ORPHA:2869 |
Q Fever |
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Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Weight ... |
ORPHA:781 |
Dubowitz Syndrome |
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Hypocholesterolemia |
OMIM:223370 |
Genitopalatocardiac Syndrome |
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Abnormal mesentery morphology, Abnormality of the gallbladder |
ORPHA:2075 |
Hereditary Hemorrhagic Telangiectasia |
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Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure |
ORPHA:774 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Hepatomegaly, Obesity, Hepatosplenomegaly, Cholecystitis, Cholelithiasis |
OMIM:301066 |
Vacterl/Vater Association |
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Abnormality of the pancreas, Abnormality of the gallbladder |
ORPHA:887 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Cholecystitis |
ORPHA:309256 |
Metachromatic Leukodystrophy, Adult Form |
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Cholecystitis, Neoplasm of the gallbladder |
ORPHA:309271 |
Metachromatic Leukodystrophy, Juvenile Form |
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Cholecystitis |
ORPHA:309263 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Viral hepatitis, Liver abscess, Cholangitis, Cholecystitis |
ORPHA:183675 |
Igg4-Related Kidney Disease |
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Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Abnormal mesente... |
ORPHA:449395 |
Listeriosis |
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Liver abscess, Jaundice, Peritonitis, Hepatic granulomatosis, Cholecystitis, Splenic abscess |
ORPHA:533 |
Wolf-Hirschhorn Syndrome |
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Failure to thrive, Abnormality of the gallbladder, Abdominal situs inversus |
ORPHA:280 |
Smith-Lemli-Opitz Syndrome |
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Abnormality of the gallbladder, Elevated circulating 7-dehydrocholesterol concentration |
ORPHA:818 |
Crimean-Congo Hemorrhagic Fever |
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Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Splenomegal... |
ORPHA:99827 |
Kawasaki Disease |
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Jaundice, Hepatitis, Cholecystitis |
ORPHA:2331 |