Hypobetalipoproteinemia, Familial, 2 |
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Decreased LDL cholesterol concentration, Hypotriglyceridemia |
OMIM:605019 |
Glycine N-Methyltransferase Deficiency |
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Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:606664 |
Apolipoprotein C-Iii Deficiency |
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Decreased LDL cholesterol concentration, Increased HDL cholesterol concentration, Hypotriglycerid... |
OMIM:614028 |
Crigler-Najjar Syndrome, Type Ii |
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Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-... |
OMIM:606785 |
Glycogen Storage Disease Vi |
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Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... |
OMIM:232700 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... |
ORPHA:79506 |
Hyperinsulinism Due To Insr Deficiency |
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Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... |
ORPHA:263458 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
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Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:619874 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Combined Oxidative Phosphorylation Deficiency 16 |
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Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
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Hypoglycemia |
ORPHA:35701 |
Gilbert Syndrome |
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Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic failure |
OMIM:143500 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Hypertriglyceridemia, Transient Infantile |
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Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elev... |
OMIM:614480 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
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Cholestatic liver disease, Elevated circulating hepatic transaminase concentration |
OMIM:602114 |
Congenital Glucokinase-Related Hyperinsulinism |
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Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... |
ORPHA:79299 |
Glycogen Storage Disease 0, Liver |
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Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
Congenital Disorder Of Glycosylation, Type Iip |
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Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated circu... |
OMIM:616829 |
Crigler-Najjar Syndrome, Type I |
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Jaundice, Elevated circulating hepatic transaminase concentration |
OMIM:218800 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
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Hypoglycemia |
OMIM:223500 |
Cholestasis-Lymphedema Syndrome |
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Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper... |
OMIM:214900 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
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Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Abno... |
OMIM:147480 |
Fructose And Galactose Intolerance |
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Hypoglycemia |
OMIM:229500 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Bile Acid Conjugation Defect 1 |
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Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir... |
OMIM:619232 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:240900 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Hypoglycemia,... |
OMIM:620211 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
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Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Hyperinsulinism-Hyperammonemia Syndrome |
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Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... |
ORPHA:35878 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
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Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper... |
OMIM:615160 |
Portal Hypertension, Noncirrhotic, 1 |
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Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension |
OMIM:617068 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
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Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... |
OMIM:619658 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Steatorrhea, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concen... |
OMIM:235555 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
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Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia |
ORPHA:6 |
Glycogen Storage Disease Ixa1 |
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Hypertriglyceridemia, Hepatomegaly, Reduced hepatic phosphorylase kinase activity, Elevated circu... |
OMIM:306000 |
Congenital Disorder Of Glycosylation, Type Iio |
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Cholestatic liver disease, Elevated alkaline phosphatase of bone origin, Cirrhosis, Elevated circ... |
OMIM:616828 |
Hyperlipoproteinemia, Type V |
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Decreased HDL cholesterol concentration, Increased circulating chylomicron concentration, Increas... |
OMIM:144650 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
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Elevated circulating hepatic transaminase concentration, Portal hypertension |
OMIM:615506 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... |
OMIM:607765 |
Bile Acid Malabsorption, Primary, 2 |
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Steatorrhea, Periportal fibrosis, Elevated circulating alanine aminotransferase concentration, Pr... |
OMIM:619481 |
Hepatitis, Fulminant Viral, Susceptibility To |
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Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... |
OMIM:618549 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... |
ORPHA:79302 |
Gallbladder Disease 1 |
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Jaundice, Elevated circulating hepatic transaminase concentration, Cholangitis, Cholelithiasis, P... |
OMIM:600803 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Scler... |
OMIM:619662 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
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Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Protoporphyria, Erythropoietic, X-Linked |
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Elevated circulating hepatic transaminase concentration, Cholelithiasis |
OMIM:300752 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... |
OMIM:616278 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... |
OMIM:613812 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
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Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Periportal fib... |
OMIM:619484 |
Kennedy Disease |
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Abnormal circulating lipid concentration, Type II diabetes mellitus |
ORPHA:481 |
Ornithine Transcarbamylase Deficiency |
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Hyperammonemia, Hypoglycemia |
ORPHA:664 |
Propionic Acidemia |
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Hyperammonemia, Hypoglycemia |
ORPHA:35 |
Riboflavin Deficiency |
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Elevated circulating acylcarnitine concentration, Hypoglycemia |
OMIM:615026 |
Biliary Atresia, Extrahepatic |
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Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:210500 |
Glycogen Storage Disease Ixc |
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Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... |
OMIM:613027 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... |
OMIM:602347 |
Lipodystrophy, Familial Partial, Type 6 |
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Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... |
OMIM:615980 |
Low Phospholipid-Associated Cholelithiasis |
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Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Cholangitis, S... |
ORPHA:69663 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... |
ORPHA:79303 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Diabetes mellitus |
OMIM:608709 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
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Steatorrhea, Elevated circulating hepatic transaminase concentration |
OMIM:618752 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... |
OMIM:214950 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
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Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circ... |
OMIM:605911 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... |
OMIM:262190 |
Parenteral Nutrition-Associated Cholestasis |
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Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... |
ORPHA:567983 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
Orthostatic Hypotension 2 |
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Hypoglycemia |
OMIM:618182 |
Insulin-Resistance Syndrome Type B |
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Abnormal circulating lipid concentration, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fastin... |
ORPHA:2298 |
Isolated Biliary Atresia |
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Decreased liver function, Xanthelasma, Cirrhosis, Jaundice, Elevated circulating hepatic transami... |
ORPHA:30391 |
Alopecia Universalis |
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Abnormal circulating lipid concentration, Type I diabetes mellitus |
ORPHA:701 |
Stiff Skin Syndrome |
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Abnormal circulating lipid concentration, Type II diabetes mellitus |
ORPHA:2833 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
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Abnormal circulating lipid concentration, Type I diabetes mellitus, Hyperlipoproteinemia |
ORPHA:1979 |
Apolipoprotein A-I Deficiency |
|
Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration |
ORPHA:425 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Acquired Generalized Lipodystrophy |
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Hypertriglyceridemia, Abnormal circulating lipid concentration, Hyperinsulinemia, Insulin resista... |
ORPHA:79086 |