Type 1 Diabetes Mellitus 15 |
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Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Type 1 Diabetes Mellitus 6 |
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Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
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Diabetes mellitus |
OMIM:601942 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
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Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
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Hypoglycemia |
ORPHA:35701 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Short Stature Due To Partial Ghr Deficiency |
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Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia |
ORPHA:314802 |
Type 2 Diabetes Mellitus |
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Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... |
ORPHA:293964 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Glycogen Storage Disease Vi |
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Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlipidemia, Increased ... |
OMIM:232700 |
Hyperinsulinism Due To Insr Deficiency |
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Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Transient Neonatal Diabetes Mellitus |
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Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoth... |
ORPHA:99886 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
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Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
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Hypoglycemia |
OMIM:223500 |
Glycine N-Methyltransferase Deficiency |
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Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:606664 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Proprotein Convertase 1/3 Deficiency |
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Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi... |
OMIM:600955 |
Glycogen Storage Disease 0, Liver |
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Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Fructose And Galactose Intolerance |
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Hypoglycemia |
OMIM:229500 |
Isolated Growth Hormone Deficiency, Type Ia |
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Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... |
OMIM:262400 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
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Insulin resistance |
OMIM:200170 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
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Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Congenital Glucokinase-Related Hyperinsulinism |
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Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... |
ORPHA:79299 |
Insulinomatosis And Diabetes Mellitus |
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Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... |
OMIM:147630 |
Polyendocrine-Polyneuropathy Syndrome |
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Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... |
ORPHA:453533 |
Insulin Autoimmune Syndrome |
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Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... |
ORPHA:411593 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615158 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypoglycemia |
ORPHA:366 |
Mody |
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Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... |
ORPHA:552 |
Cortisone Reductase Deficiency 2 |
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Insulin resistance, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio... |
OMIM:614662 |
Crigler-Najjar Syndrome, Type Ii |
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Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa... |
OMIM:606785 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
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Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Hepatitis, Fulminant Viral, Susceptibility To |
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Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Hepatic failur... |
OMIM:618549 |
Glucocorticoid Deficiency 3 |
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Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... |
OMIM:609197 |
Diarrhea 13 |
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Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recurrent hypoglycemia |
OMIM:620357 |
Congenital Disorder Of Glycosylation, Type Iip |
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Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato... |
OMIM:616829 |
Hypertriglyceridemia, Transient Infantile |
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Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... |
OMIM:614480 |
Gilbert Syndrome |
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Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration |
OMIM:143500 |
Pituitary Hormone Deficiency, Combined, 2 |
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Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
Glycogen Storage Disease Ixa1 |
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Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hypercholesterolemia, Hype... |
OMIM:306000 |
Acth Deficiency, Isolated |
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Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena... |
OMIM:201400 |
Crigler-Najjar Syndrome, Type I |
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Jaundice, Elevated circulating hepatic transaminase concentration |
OMIM:218800 |
Blue Diaper Syndrome |
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Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Elev... |
ORPHA:94086 |
Glycogen Storage Disease Ixc |
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Elevated circulating hepatic transaminase concentration, Hypoglycemia, Increased hepatic glycogen... |
OMIM:613027 |
Cholestasis-Lymphedema Syndrome |
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Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Neonatal cholestatic liv... |
OMIM:214900 |
Pituitary Hormone Deficiency, Combined, 6 |
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Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... |
OMIM:613986 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... |
ORPHA:2089 |
Orthostatic Hypotension 2 |
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Hypoglycemia |
OMIM:618182 |
Body Mass Index Quantitative Trait Locus 20 |
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Hyperinsulinemia |
OMIM:618406 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
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Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Elevated circ... |
OMIM:147480 |
Corticosterone Methyloxidase Type Ii Deficiency |
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Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... |
OMIM:610600 |
Solitary Fibrous Tumor |
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Hypoinsulinemia, Hypoglycemia, Recurrent hypoglycemia |
ORPHA:2126 |
X-Linked Sideroblastic Anemia |
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Glucose intolerance, Elevated circulating hepatic transaminase concentration |
ORPHA:75563 |
Bile Acid Conjugation Defect 1 |
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Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... |
OMIM:619232 |
Low Phospholipid-Associated Cholelithiasis |
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Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
Body Mass Index Quantitative Trait Locus 19 |
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Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Hjv Or Hamp-Related Hemochromatosis |
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Elevated circulating hepatic transaminase concentration, Hypogonadism, Congenital hepatic fibrosi... |
ORPHA:79230 |
Late-Onset Familial Hypoaldosteronism |
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Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... |
ORPHA:556037 |
Glucocorticoid Resistance, Generalized |
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Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... |
OMIM:615962 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
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Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
OMIM:605911 |
Tenorio Syndrome |
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Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
Infantile Liver Failure Syndrome 2 |
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Acute hepatic failure, Jaundice, Elevated circulating hepatic transaminase concentration, Hypogly... |
OMIM:616483 |
Early-Onset Familial Hypoaldosteronism |
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Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... |
ORPHA:556030 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
Portal Hypertension, Noncirrhotic, 1 |
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Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension |
OMIM:617068 |
Carnitine Palmitoyl Transferase 1A Deficiency |
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Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient... |
ORPHA:156 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Type II diabetes mel... |
OMIM:616860 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
OMIM:600649 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Cholestasi... |
OMIM:619662 |
Gallbladder Disease 1 |
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Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
ORPHA:79302 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
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Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... |
OMIM:615381 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... |
OMIM:613812 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Increased urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, M... |
ORPHA:90793 |
Adrenocortical Carcinoma |
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Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... |
ORPHA:1501 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
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Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... |
OMIM:619484 |
46,Xy Sex Reversal 5 |
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Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... |
OMIM:613080 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
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Elevated circulating hepatic transaminase concentration, Portal hypertension |
OMIM:615506 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... |
OMIM:602347 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
ORPHA:79303 |
Biliary Atresia, Extrahepatic |
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Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... |
OMIM:210500 |
Carnitine Palmitoyltransferase I Deficiency |
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Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... |
OMIM:255120 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Elevated circu... |
OMIM:616026 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:214950 |
Parenteral Nutrition-Associated Cholestasis |
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Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev... |
ORPHA:567983 |
Isolated Biliary Atresia |
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Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... |
ORPHA:30391 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... |
ORPHA:189427 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
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Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... |
OMIM:610489 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo... |
ORPHA:95699 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff... |
ORPHA:90796 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... |
OMIM:610475 |
Apparent Mineralocorticoid Excess |
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Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... |
ORPHA:320 |
African Trypanosomiasis |
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Hepatosplenomegaly, Abnormality of circulating cortisol level, Abnormality of renin-angiotensin s... |
ORPHA:3385 |