Maturity-Onset Diabetes Of The Young, Type 13 |
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Maternal diabetes, Maturity-onset diabetes of the young |
OMIM:616329 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Maturity-Onset Diabetes Of The Young, Type 7 |
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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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Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
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 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
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, 5 |
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Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Diabetes Mellitus, Transient Neonatal, 2 |
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Type II diabetes mellitus, Transient neonatal 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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Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Acid-Labile Subunit Deficiency |
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Delayed puberty, Insulin insensitivity, Decreased serum insulin-like growth factor 1 |
OMIM:615961 |
Insulinomatosis And Diabetes Mellitus |
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Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
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Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Schizophrenia 19 |
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Cognitive impairment |
OMIM:617629 |
Monoamine Oxidase A Deficiency |
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Cognitive impairment |
ORPHA:3057 |
Hyperinsulinism Due To Insr Deficiency |
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Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Hyperinsulinism Due To Glucokinase Deficiency |
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Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
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Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Optic Atrophy--Spastic Paraplegia Syndrome |
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Abnormal oral glucose tolerance |
OMIM:311100 |
Type 2 Diabetes Mellitus |
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Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
RCAD (renal cysts and diabetes) |
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Diabetes mellitus, Abnormality of the liver |
DECIPHER:47 |
Insulin Autoimmune Syndrome |
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Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... |
ORPHA:411593 |
Hypoglycemia, Leucine-Induced |
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Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Familial Partial Lipodystrophy, Köbberling Type |
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Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... |
ORPHA:79084 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
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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Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
Preaxial Hallucal Polydactyly |
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Diabetes mellitus |
OMIM:601759 |
Hyperinsulinism-Hyperammonemia Syndrome |
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Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Homozygous 11P15-P14 Deletion Syndrome |
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Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... |
ORPHA:276580 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
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Insulin resistance |
OMIM:200170 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactiv... |
ORPHA:276608 |
Cranial Nerves, Recurrent Paresis Of |
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Diabetes mellitus |
OMIM:218200 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Maternal diabetes, Neonatal hyp... |
ORPHA:324575 |
Body Mass Index Quantitative Trait Locus 20 |
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Hyperinsulinemia |
OMIM:618406 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism |
OMIM:307500 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... |
ORPHA:276575 |
Obesity Due To Prohormone Convertase I Deficiency |
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Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... |
ORPHA:71526 |
Body Mass Index Quantitative Trait Locus 19 |
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Hyperinsulinemia, Increased serum leptin, Insulin resistance |
OMIM:617885 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
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Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Plin1-Related Familial Partial Lipodystrophy |
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Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... |
ORPHA:280356 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... |
ORPHA:79644 |
Mahvash Disease |
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Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
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Delayed thelarche, Diabetes mellitus, Delayed puberty, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
Hepatic Adenomas, Familial |
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Hepatocellular adenoma, Maturity-onset diabetes of the young |
OMIM:142330 |
Estrogen Resistance |
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Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Glucose... |
OMIM:615363 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc... |
OMIM:262190 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Obesity Due To Sim1 Deficiency |
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Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
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Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hy... |
ORPHA:276556 |
Bdv Syndrome |
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Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Mody |
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Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, A... |
ORPHA:552 |
Insulinoma |
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Hyperhidrosis, Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cel... |
ORPHA:97279 |
Lipodystrophy, Familial Partial, Type 3 |
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Hyperinsulinemia, Cirrhosis, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, He... |
OMIM:604367 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Type II diabetes mellitus, Glucose intolerance, Impaired glucose tolerance |
OMIM:610947 |
Transient Neonatal Diabetes Mellitus |
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Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M... |
ORPHA:99886 |
Hyperlipoproteinemia, Type Iv |
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Hypopituitarism, Glucose intolerance |
OMIM:144600 |
Hypertriglyceridemia 1 |
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Hypopituitarism, Glucose intolerance |
OMIM:145750 |
Obesity Due To Congenital Leptin Deficiency |
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Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
Bangstad Syndrome |
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Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... |
ORPHA:1227 |
Maturity-Onset Diabetes Of The Young, Type 14 |
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Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Retinitis Pigmentosa |
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Type II diabetes mellitus, Hyperinsulinemia, Hypogonadism |
ORPHA:791 |
Short Stature, Dauber-Argente Type |
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Fasting hyperinsulinemia |
OMIM:619489 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Neonatal hypoglycemia, Increased hepatic glyco... |
ORPHA:293964 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Hyperinsulinism Due To Hnf4A Deficiency |
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Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Glycosuria, Neonatal hypoglycemia, Hyp... |
ORPHA:263455 |
Estrogen Resistance Syndrome |
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Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal circulating hormone concentr... |
ORPHA:785 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Hepatomegaly |
ORPHA:363400 |
Perlman Syndrome |
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Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly |
ORPHA:2849 |
Polyendocrine-Polyneuropathy Syndrome |
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Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Galactokinase Deficiency |
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Hyperinsulinemia, Hepatosplenomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Hepatomegaly |
ORPHA:79237 |
Insulin-Resistance Syndrome Type B |
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Hyperinsulinemia, Biliary cirrhosis, Increased serum testosterone level, Fasting hypoglycemia, Di... |
ORPHA:2298 |
Donohue Syndrome |
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Hyperinsulinemia, Precocious puberty, Hepatic fibrosis, Postprandial hyperglycemia, Cholestasis, ... |
OMIM:246200 |
Hemochromatosis, Type 4 |
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Cirrhosis, Impaired glucose tolerance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Glucos... |
OMIM:606069 |
Familial Renal Glucosuria |
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Glycosuria, Insulin resistance, Hyperglycemia, Abnormal oral glucose tolerance, Abnormal circulat... |
ORPHA:69076 |
Mpi-Cdg |
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Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hepatomegaly, Portal hypertension |
ORPHA:79319 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
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Hyperglycemia, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young |
OMIM:609812 |
X-Linked Acrogigantism |
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Enlarged pituitary gland, Diabetes insipidus, Hyperhidrosis, Increased circulating prolactin conc... |
ORPHA:300373 |
Congenital Generalized Lipodystrophy |
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Precocious puberty in females, Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis... |
ORPHA:528 |
X-Linked Sideroblastic Anemia |
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Splenomegaly, Glucose intolerance |
ORPHA:75563 |
Multiple Endocrine Neoplasia Type 4 |
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Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
Acquired Generalized Lipodystrophy |
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Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Acute pancreatitis, Insulin-r... |
ORPHA:79086 |
Mandibuloacral Dysplasia |
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Hyperinsulinemia, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Glucose intolerance |
OMIM:309620 |
Pancreatic Agenesis 2 |
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Pancreatic hypoplasia, Diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:615935 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Alstrom Syndrome |
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Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... |
OMIM:203800 |
Congenital Disorder Of Glycosylation, Type Ib |
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Cirrhosis, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hepatomegaly |
OMIM:602579 |
Lipodystrophy, Familial Partial, Type 2 |
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Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Acute pancreatitis, Insulin-resis... |
OMIM:151660 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Hypoketotic hypoglycemia, Hepatic necrosis, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia,... |
ORPHA:71212 |
Dopamine Beta-Hydroxylase Deficiency |
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Hypoglycemia, Insulin resistance, Hyperinsulinemia |
ORPHA:230 |
Rabson-Mendenhall Syndrome |
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Hypothyroidism, Precocious puberty, Increased serum testosterone level, Impaired glucose toleranc... |
ORPHA:769 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:613327 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Hyperinsulinemia, Cirrhosis, Insulin-resistant diabetes mellitus at puberty, Hepatic steatosis, D... |
OMIM:608594 |
Pancreatitis, Hereditary |
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Pancreatic pseudocyst, Pancreatic calcification, Diabetes mellitus, Exocrine pancreatic insuffici... |
OMIM:167800 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Hyperinsulinemia, Impaired glucose tolerance, Hepatomegaly, Insulin-resistant diabetes mellitus, ... |
OMIM:248370 |
Woodhouse-Sakati Syndrome |
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Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:3464 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hyperinsulinemia, Cirrhosis, Insulin-resistant diabetes mellitus at puberty, Type II diabetes mel... |
OMIM:269700 |
Seckel Syndrome 10 |
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Impaired glucose tolerance, Glycosuria, Insulin resistance, Hepatic steatosis, Diabetes mellitus,... |
OMIM:617253 |
Prader-Willi Syndrome |
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Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre... |
OMIM:176270 |
Leprechaunism |
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Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Insulin resistance, Increased circu... |
ORPHA:508 |
Solitary Fibrous Tumor/Hemangiopericytoma |
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Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Recurrent hypoglycemia, Hypoi... |
ORPHA:2126 |
Atypical Werner Syndrome |
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Hyperinsulinemia, Hypogonadism, Glycosuria, Type II diabetes mellitus, Hepatic steatosis, Diabete... |
ORPHA:79474 |
Steinert Myotonic Dystrophy |
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Hyperinsulinemia, Decreased response to growth hormone stimulation test, Abnormality of thyroid p... |
ORPHA:273 |
Tenorio Syndrome |
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Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis... |
ORPHA:99413 |
Turner Syndrome |
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High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis... |
ORPHA:881 |
Mosaic Monosomy X |
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High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis... |
ORPHA:99228 |
Monosomy X |
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High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis... |
ORPHA:99226 |
Liver Disease, Severe Congenital |
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Pancreatic hypoplasia, Biliary hyperplasia, Jaundice, Abnormal hepatic echogenicity, Ballooning h... |
OMIM:619991 |
Alström Syndrome |
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Hepatosplenomegaly, Hepatic steatosis, Decreased circulating T4 concentration, Hepatomegaly, Sple... |
ORPHA:64 |
Leukocyte Adhesion Deficiency |
|
Peritonitis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Pmm2-Cdg |
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Hyperinsulinemia, Hepatic fibrosis, Elevated circulating thyroid-stimulating hormone concentratio... |
ORPHA:79318 |