Hyperinsulinemic Hypoglycemia, Familial, 5 |
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Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
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Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Hyperinsulinism Due To Insr Deficiency |
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Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Insulinomatosis And Diabetes Mellitus |
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Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... |
OMIM:147630 |
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 |
Insulin Autoimmune Syndrome |
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Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... |
ORPHA:411593 |
Hyperinsulinism-Hyperammonemia Syndrome |
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Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia |
ORPHA:35878 |
Hypoglycemia, Leucine-Induced |
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Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Body Mass Index Quantitative Trait Locus 20 |
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Hyperinsulinemia |
OMIM:618406 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Hyperinsulinemia |
ORPHA:329249 |
Homozygous 11P15-P14 Deletion Syndrome |
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Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... |
ORPHA:324575 |
Obesity And Hypopigmentation |
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Hyperinsulinemia |
OMIM:620195 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... |
ORPHA:276580 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Familial Partial Lipodystrophy, Köbberling Type |
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Insulin resistance, Hyperinsulinemia, Diabetes mellitus |
ORPHA:79084 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... |
ORPHA:276575 |
Body Mass Index Quantitative Trait Locus 19 |
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Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Obesity Due To Prohormone Convertase I Deficiency |
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Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... |
ORPHA:71526 |
Bdv Syndrome |
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Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... |
OMIM:619326 |
Obesity Due To Sim1 Deficiency |
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Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... |
OMIM:262190 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
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Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Diabetes mellitus |
OMIM:616033 |
Plin1-Related Familial Partial Lipodystrophy |
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Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
Insulinoma |
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Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
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 Congenital Leptin Deficiency |
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Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
Estrogen Resistance |
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Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... |
OMIM:615363 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Hyperinsulinemia |
ORPHA:66518 |
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 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... |
ORPHA:276556 |
Lipodystrophy, Familial Partial, Type 3 |
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Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
Mody |
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Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... |
ORPHA:552 |
Bangstad Syndrome |
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Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
Short Stature, Dauber-Argente Type |
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Fasting hyperinsulinemia |
OMIM:619489 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
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Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperi... |
ORPHA:263455 |
Perlman Syndrome |
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Hyperinsulinemia |
ORPHA:2849 |
Estrogen Resistance Syndrome |
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Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... |
ORPHA:785 |
Insulin-Resistance Syndrome Type B |
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Postprandial hyperglycemia, Insulin resistance, Abnormal circulating leptin concentration, Insuli... |
ORPHA:2298 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
X-Linked Acrogigantism |
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Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
Multiple Endocrine Neoplasia Type 4 |
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Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
Donohue Syndrome |
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Precocious puberty, Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... |
OMIM:246200 |
Galactokinase Deficiency |
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Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia |
ORPHA:79237 |
Congenital Generalized Lipodystrophy |
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Insulin resistance, Hyperinsulinemia, Precocious puberty in females, Diabetes mellitus |
ORPHA:528 |
Mpi-Cdg |
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Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Mandibuloacral Dysplasia |
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Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hypoglycemic s... |
ORPHA:71212 |
Rabson-Mendenhall Syndrome |
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Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me... |
ORPHA:769 |
Dopamine Beta-Hydroxylase Deficiency |
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Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Retinitis Pigmentosa |
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Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Congenital Disorder Of Glycosylation, Type Ib |
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Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Acquired Generalized Lipodystrophy |
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Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:79086 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Insulin resistance, Hyperinsulinemia |
OMIM:613327 |
Prader-Willi Syndrome |
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Precocious puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Adre... |
OMIM:176270 |
Lipodystrophy, Familial Partial, Type 2 |
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Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus |
OMIM:151660 |
Woodhouse-Sakati Syndrome |
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Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... |
ORPHA:3464 |
Alstrom Syndrome |
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Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... |
OMIM:203800 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus |
OMIM:248370 |
Atelis Syndrome 2 |
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Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration |
OMIM:620185 |
Leprechaunism |
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Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... |
ORPHA:508 |
Atypical Werner Syndrome |
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Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l... |
ORPHA:79474 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Diabetes mellitus, Decreased se... |
OMIM:608594 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Type II diabetes mellitus, Decr... |
OMIM:269700 |
Steinert Myotonic Dystrophy |
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Insulin resistance, Male hypogonadism, Decreased response to growth hormone stimulation test, Dec... |
ORPHA:273 |
Turner Syndrome |
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Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... |
ORPHA:881 |
Mosaic Monosomy X |
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Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... |
ORPHA:99228 |
Monosomy X |
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Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... |
ORPHA:99226 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... |
ORPHA:99413 |
Fanconi Anemia, Complementation Group E |
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Prolonged G2 phase of cell cycle |
OMIM:600901 |
Fanconi Anemia, Complementation Group D2 |
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Prolonged G2 phase of cell cycle, Patent ductus arteriosus |
OMIM:227646 |
Fanconi Anemia, Complementation Group A |
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Prolonged G2 phase of cell cycle |
OMIM:227650 |
Liver Disease, Severe Congenital |
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Hyperinsulinemic hypoglycemia, Abnormal circulating thyroid hormone concentration |
OMIM:619991 |
Fanconi Anemia, Complementation Group C |
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Prolonged G2 phase of cell cycle |
OMIM:227645 |
Alström Syndrome |
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Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo... |
ORPHA:64 |
Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Pmm2-Cdg |
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Insulin resistance, Elevated circulating thyroid-stimulating hormone concentration, Increased cir... |
ORPHA:79318 |