Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
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Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Diabetes Mellitus, Ketosis-Prone |
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Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Mahvash Disease |
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Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel... |
OMIM:619290 |
Insulinomatosis And Diabetes Mellitus |
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Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
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Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Transient Neonatal Diabetes Mellitus |
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Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
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Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... |
ORPHA:171706 |
Mody |
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Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... |
ORPHA:552 |
Hemochromatosis Type 2 |
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Abnormality of endocrine pancreas physiology, Hypogonadism, Diabetes mellitus, Congenital hepatic... |
ORPHA:79230 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Familial Partial Lipodystrophy, Köbberling Type |
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Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Polycystic o... |
ORPHA:79084 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
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Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Hyperinsulinism Due To Glucokinase Deficiency |
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Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Hyperinsulinism Due To Insr Deficiency |
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Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Polyendocrine-Polyneuropathy Syndrome |
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Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... |
ORPHA:453533 |
Insulinoma |
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Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Excessive insu... |
ORPHA:276556 |
Hyperproinsulinemia |
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Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Plin1-Related Familial Partial Lipodystrophy |
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Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Abnormal ... |
ORPHA:280356 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
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Pancreatic islet-cell hyperplasia |
OMIM:601165 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... |
ORPHA:324575 |
Obesity Due To Prohormone Convertase I Deficiency |
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Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71526 |
Insulin Autoimmune Syndrome |
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Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Hypoglycemia, Leucine-Induced |
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Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Hyperinsulinism Due To Hnf4A Deficiency |
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Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... |
ORPHA:263455 |
Body Mass Index Quantitative Trait Locus 19 |
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Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistance |
OMIM:617885 |
Bangstad Syndrome |
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Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
Obesity Due To Congenital Leptin Deficiency |
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Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
Homozygous 11P15-P14 Deletion Syndrome |
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Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Bdv Syndrome |
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Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Lipodystrophy, Familial Partial, Type 3 |
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Hyperinsulinemia, Type II diabetes mellitus, Insulin resistance, Cirrhosis, Maternal diabetes, Hy... |
OMIM:604367 |
Hyperinsulinism-Hyperammonemia Syndrome |
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Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Donohue Syndrome |
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Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Ovarian cyst, Cholestasis, Panc... |
OMIM:246200 |
Pancreatitis, Hereditary |
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Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Diabetes mel... |
OMIM:167800 |
Solitary Fibrous Tumor/Hemangiopericytoma |
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Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, Hypoglycemia, Recurrent hy... |
ORPHA:2126 |
Perlman Syndrome |
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Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly |
ORPHA:2849 |
Multiple Endocrine Neoplasia Type 4 |
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Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Body Mass Index Quantitative Trait Locus 20 |
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Hyperinsulinemia |
OMIM:618406 |
Estrogen Resistance |
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Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Hyperinsulinemia |
ORPHA:329249 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hypot... |
ORPHA:93111 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglyc... |
OMIM:262190 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
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Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus |
OMIM:616033 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Decreased testicular... |
ORPHA:3085 |
Retinitis Pigmentosa |
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Type II diabetes mellitus, Hyperinsulinemia, Abnormal testis morphology, Hypogonadism |
ORPHA:791 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Insulin resistance, Hepatic stea... |
ORPHA:363400 |
Obesity Due To Sim1 Deficiency |
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Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Tropical Pancreatitis |
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Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... |
ORPHA:103918 |
Acquired Generalized Lipodystrophy |
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Hyperinsulinemia, Hepatomegaly, Insulin resistance, Cirrhosis, Acute pancreatitis, Hypertriglycer... |
ORPHA:79086 |
Congenital Generalized Lipodystrophy |
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Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Cirrhosis, Hyp... |
ORPHA:528 |
Galactokinase Deficiency |
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Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Hypoglycemia,... |
ORPHA:79237 |
Estrogen Resistance Syndrome |
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Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... |
ORPHA:785 |
Mpi-Cdg |
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Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis, Portal hypertension |
ORPHA:79319 |
Tenorio Syndrome |
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Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
X-Linked Acrogigantism |
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Abnormality of the pituitary gland, Decreased thyroid-stimulating hormone level, Adrenocorticotro... |
ORPHA:300373 |
Insulin-Resistance Syndrome Type B |
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Postprandial hyperglycemia, Increased serum testosterone level, Glucose intolerance, Hyperinsulin... |
ORPHA:2298 |
Lipodystrophy, Familial Partial, Type 2 |
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Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Acute pancreatitis, Hypertriglyceridem... |
OMIM:151660 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
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Reduced pancreatic beta cells, Hepatomegaly, Insulin-resistant diabetes mellitus, Type I diabetes... |
OMIM:226980 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Glycosuria, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreat... |
ORPHA:99885 |
Alstrom Syndrome |
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Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulation test, Hy... |
OMIM:203800 |
Congenital Disorder Of Glycosylation, Type Ib |
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Hyperinsulinemic hypoglycemia, Hepatomegaly, Steatorrhea, Cirrhosis, Hepatic fibrosis |
OMIM:602579 |
Mandibuloacral Dysplasia |
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Glucose intolerance, Hyperinsulinemia, Increased circulating free fatty acid level, Hypertriglyce... |
ORPHA:2457 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsulinemia, Hypoglycemic s... |
ORPHA:71212 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased serum leptin, Acute pancreatit... |
OMIM:608594 |
Woodhouse-Sakati Syndrome |
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Hyperinsulinemia, Hyperlipidemia, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:3464 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyper... |
OMIM:608612 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Splenomegaly, Cirrhosis, Decreased ser... |
OMIM:269700 |
Perlman Syndrome |
|
Cryptorchidism, Pancreatic islet-cell hyperplasia |
OMIM:267000 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis... |
ORPHA:769 |
Tyrosinemia, Type I |
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Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Hypoglycemia, Pancreatic islet-c... |
OMIM:276700 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Insulin resistance, Hepatic s... |
OMIM:613327 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Hyperinsulinemia, Hyperlipidemia, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant dia... |
OMIM:248370 |
Simpson-Golabi-Behmel Syndrome |
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Hepatomegaly, Hepatoblastoma, Supernumerary nipple, Splenomegaly, Hypoglycemia, Pancreatic islet-... |
ORPHA:373 |
Greenberg Dysplasia |
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Hepatic calcification, Pancreatic islet-cell hyperplasia, Hepatomegaly, Hepatosplenomegaly |
OMIM:215140 |
Prader-Willi Syndrome |
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Adrenal insufficiency, Type II diabetes mellitus, Hyperinsulinemia, Decreased response to growth ... |
OMIM:176270 |
Leprechaunism |
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Postprandial hyperglycemia, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Increased circula... |
ORPHA:508 |
Dopamine Beta-Hydroxylase Deficiency |
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Hypoglycemia, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
Atypical Werner Syndrome |
|
Type II diabetes mellitus, Ovarian neoplasm, Hyperinsulinemia, Glycosuria, Hypertriglyceridemia, ... |
ORPHA:79474 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased se... |
ORPHA:273 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... |
ORPHA:99413 |
Turner Syndrome |
|
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... |
ORPHA:881 |
Mosaic Monosomy X |
|
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... |
ORPHA:99228 |
Monosomy X |
|
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... |
ORPHA:99226 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hepatoblastoma, Supernumerary nipple, Splenomegaly, Pancreatic islet-cell hyperplas... |
OMIM:312870 |
Alström Syndrome |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hypergonadotropic hypogo... |
ORPHA:64 |
Pmm2-Cdg |
|
Elevated circulating growth hormone concentration, Hyperinsulinemia, Hypogonadotropic hypogonadis... |
ORPHA:79318 |