Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Maturity-Onset Diabetes Of The Young, Type 4 |
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Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Type 1 Diabetes Mellitus 15 |
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Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Maturity-Onset Diabetes Of The Young, Type 2 |
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Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
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Type I diabetes mellitus |
OMIM:125852 |
Maturity-Onset Diabetes Of The Young, Type 9 |
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Maturity-onset diabetes of the young |
OMIM:612225 |
Maturity-Onset Diabetes Of The Young, Type 6 |
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Maturity-onset diabetes of the young |
OMIM:606394 |
Type 1 Diabetes Mellitus 20 |
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Type I diabetes mellitus |
OMIM:612520 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
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Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
Diabetes Mellitus, Transient Neonatal, 2 |
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Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Maturity-Onset Diabetes Of The Young, Type 1 |
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Maturity-onset diabetes of the young |
OMIM:125850 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Hypoglycemia |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Insulinomatosis And Diabetes Mellitus |
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Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... |
OMIM:147630 |
Acid-Labile Subunit Deficiency |
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Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin insensitivity |
OMIM:615961 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
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Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hyperinsulinism Due To Insr Deficiency |
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Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Congenital Glucokinase-Related Hyperinsulinism |
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Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
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Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Optic Atrophy--Spastic Paraplegia Syndrome |
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Abnormal oral glucose tolerance |
OMIM:311100 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
RCAD (renal cysts and diabetes) |
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Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Insulin Autoimmune Syndrome |
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Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... |
ORPHA:411593 |
Familial Partial Lipodystrophy, Köbberling Type |
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Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... |
ORPHA:79084 |
Hypoglycemia, Leucine-Induced |
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Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
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 |
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 |
Diabetes Mellitus, Ketosis-Prone |
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Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
Preaxial Hallucal Polydactyly |
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Diabetes mellitus |
OMIM:601759 |
Hyperinsulinism-Hyperammonemia Syndrome |
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Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia |
ORPHA:35878 |
Homozygous 11P15-P14 Deletion Syndrome |
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Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Increased hepatic glycogen ... |
ORPHA:293964 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... |
ORPHA:276580 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
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Insulin resistance |
OMIM:200170 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin ... |
ORPHA:324575 |
Obesity And Hypopigmentation |
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Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
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Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... |
ORPHA:276575 |
Cranial Nerves, Recurrent Paresis Of |
|
Diabetes mellitus |
OMIM:218200 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
Obesity Due To Sim1 Deficiency |
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Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
Obesity Due To Prohormone Convertase I Deficiency |
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Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsulinemia, Central adr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsulinemia, Central adr... |
ORPHA:71526 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Plin1-Related Familial Partial Lipodystrophy |
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Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Abnormal circulating hormone concentration... |
ORPHA:280356 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
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Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Diabetes mellitus |
OMIM:616033 |
Mahvash Disease |
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Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... |
OMIM:619290 |
Bdv Syndrome |
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Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... |
OMIM:619326 |
Mody |
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Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... |
ORPHA:552 |
Estrogen Resistance |
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Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... |
OMIM:615363 |
Hepatic Adenomas, Familial |
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Hepatocellular adenoma, Maturity-onset diabetes of the young |
OMIM:142330 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... |
OMIM:262190 |
Insulinoma |
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Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Excessive in... |
ORPHA:276556 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance |
OMIM:610947 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
Hypertriglyceridemia 1 |
|
Hypopituitarism, Glucose intolerance |
OMIM:145750 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Pancreatic islet-cell hyperplasia, Increa... |
ORPHA:263455 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... |
ORPHA:785 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hepatomegaly |
ORPHA:363400 |
Perlman Syndrome |
|
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology |
ORPHA:2849 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616329 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Abnormal circulating leptin co... |
ORPHA:2298 |
Galactokinase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hepatomegaly, Hypergonadotropic hypogonadism |
ORPHA:79237 |
Donohue Syndrome |
|
Precocious puberty, Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyp... |
OMIM:246200 |
X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
Mpi-Cdg |
|
Hepatic fibrosis, Portal hypertension, Hypothyroidism, Hyperinsulinemic hypoglycemia, Hepatomegaly |
ORPHA:79319 |
Hemochromatosis, Type 4 |
|
Glucose intolerance, Hepatic steatosis, Cirrhosis, Hepatomegaly, Diabetes mellitus, Impaired gluc... |
OMIM:606069 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Congenital Generalized Lipodystrophy |
|
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Hepatic steatosis, Cirrhosis... |
ORPHA:528 |
X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Splenomegaly |
ORPHA:75563 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Cir... |
ORPHA:79086 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi... |
OMIM:600955 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
OMIM:151660 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hyperins... |
ORPHA:71212 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Rabson-Mendenhall Syndrome |
|
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me... |
ORPHA:769 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Hyperinsulinemia, Splenomegaly, Hepatic steatosis, Hepatomegaly |
OMIM:613327 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Acute pancreatitis, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Cirrhosis, Hepatomegaly, I... |
OMIM:608594 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... |
OMIM:167800 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatomegaly, Impaired gluc... |
OMIM:248370 |
Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... |
ORPHA:3464 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Splenomegaly, Cirrhosis, Hepatome... |
OMIM:269700 |
Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... |
OMIM:203800 |
Seckel Syndrome 10 |
|
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... |
OMIM:617253 |
Prader-Willi Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Adre... |
OMIM:176270 |
Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... |
ORPHA:508 |
Atelis Syndrome 2 |
|
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration |
OMIM:620185 |
Atypical Werner Syndrome |
|
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l... |
ORPHA:79474 |
Steinert Myotonic Dystrophy |
|
Insulin resistance, Male hypogonadism, Cholelithiasis, Decreased response to growth hormone stimu... |
ORPHA:273 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Hyperinsulinemia, Glucose intoler... |
ORPHA:99413 |
Turner Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Hyperinsulinemia, Glucose intoler... |
ORPHA:881 |
Mosaic Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Hyperinsulinemia, Glucose intoler... |
ORPHA:99228 |
Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Hyperinsulinemia, Glucose intoler... |
ORPHA:99226 |
Liver Disease, Severe Congenital |
|
Intrahepatic cholestasis, Portal inflammation, Pancreatic hypoplasia, Exocrine pancreatic insuffi... |
OMIM:619991 |
Alström Syndrome |
|
Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes me... |
ORPHA:64 |
Pmm2-Cdg |
|
Insulin resistance, Hepatic fibrosis, Elevated circulating thyroid-stimulating hormone concentrat... |
ORPHA:79318 |
Leukocyte Adhesion Deficiency |
|
Peritonitis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |