Mahvash Disease |
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Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... |
OMIM:619290 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:613370 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
Gcgr-Related Hyperglucagonemia |
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Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis, Increas... |
ORPHA:438274 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Glycogen Storage Disease 0, Liver |
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Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
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Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
Hyperproinsulinemia |
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Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Diabetes Mellitus, Transient Neonatal, 1 |
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Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Diabetes Mellitus, Ketosis-Prone |
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Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
Mody |
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Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c... |
ORPHA:552 |
Lipodystrophy, Familial Partial, Type 1 |
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Hyperglycemia, Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus |
OMIM:608600 |
Transient Neonatal Diabetes Mellitus |
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Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... |
ORPHA:99886 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycoge... |
ORPHA:293964 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Hyperglycemia |
OMIM:618970 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
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Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells |
OMIM:606762 |
Isolated Growth Hormone Deficiency, Type Ia |
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Reduced circulating growth hormone concentration, Prolonged neonatal jaundice, Hypoglycemia, Decr... |
OMIM:262400 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Lipodystrophy, Familial Partial, Type 3 |
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Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin... |
OMIM:604367 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperglycemia, Increa... |
OMIM:615954 |
Diabetes And Deafness, Maternally Inherited |
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Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Maturity-Onset Diabetes Of The Young, Type 13 |
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Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Type 1 Diabetes Mellitus |
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Diabetes mellitus, Hyperglycemia |
OMIM:222100 |
Mitchell-Riley Syndrome |
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Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gall... |
OMIM:615710 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,... |
OMIM:262190 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
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Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis |
OMIM:261650 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia |
OMIM:606176 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Multiple Endocrine Neoplasia Type 4 |
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Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... |
ORPHA:276152 |
Donohue Syndrome |
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Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Precocious puberty, Hyperglycemia, Ovarian c... |
OMIM:246200 |
Diabetes Mellitus, Permanent Neonatal, 3 |
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Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Hyperinsulinism Due To Insr Deficiency |
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Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... |
ORPHA:263458 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
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Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus |
ORPHA:65288 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hyperglycemia |
OMIM:604484 |
Pancreatic And Cerebellar Agenesis |
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Pancreatic hypoplasia, Pancreatic aplasia, Hyperglycemia, Hypoglycemia, Diabetes mellitus |
OMIM:609069 |
Insulin-Resistance Syndrome Type B |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... |
ORPHA:2298 |
Zollinger-Ellison Syndrome |
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Glucagonoma, Jaundice, Neuroendocrine neoplasm, Elevated circulating parathyroid hormone level, A... |
ORPHA:913 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia |
ORPHA:2089 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... |
ORPHA:79644 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Hyperglycemia, Hypergonadotropic hypogonadism |
OMIM:619737 |
Pituitary Hormone Deficiency, Combined, 2 |
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Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... |
OMIM:262600 |
Hypokalemic Periodic Paralysis |
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Adrenocortical adenoma, Postprandial hyperglycemia |
ORPHA:681 |
Greig Cephalopolysyndactyly Syndrome |
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Cryptorchidism, Hyperglycemia |
OMIM:175700 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Testicular atrophy, Portal hypertension, Hypot... |
ORPHA:465508 |
Pancreatitis, Hereditary |
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Pancreatic pseudocyst, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic calcification,... |
OMIM:167800 |
Tropical Pancreatitis |
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Jaundice, Maternal diabetes, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancr... |
ORPHA:103918 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Pancreatic hypoplasia, Glycosuria, Reduced pancreatic beta cells, Hyperglycemia, Neonatal insulin... |
ORPHA:99885 |
Dietary Iron Overload Disease |
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Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... |
ORPHA:139507 |
Fanconi-Bickel Syndrome |
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Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hepatocellular carcinoma,... |
ORPHA:2088 |
Lipodystrophy, Familial Partial, Type 2 |
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Hepatomegaly, Hyperinsulinemia, Acute pancreatitis, Hyperglycemia, Type II diabetes mellitus, Pol... |
OMIM:151660 |
Pancreatic Agenesis 2 |
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Diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia |
OMIM:615935 |
Hjv Or Hamp-Related Hemochromatosis |
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Diabetes mellitus, Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Hyp... |
ORPHA:79230 |
Bardet-Biedl Syndrome 9 |
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Hyperglycemia |
OMIM:615986 |
Cole Disease |
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Hyperglycemia |
OMIM:615522 |
Tropical Calcific Pancreatitis |
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Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... |
OMIM:608189 |
Hereditary Chronic Pancreatitis |
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Diabetes mellitus, Jaundice, Pancreatic calcification, Recurrent pancreatitis |
ORPHA:676 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hypopituitarism, Hypothyroidism, Hyperglycemia |
ORPHA:90065 |
Pituitary Hormone Deficiency, Combined, 6 |
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Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... |
OMIM:613986 |
Short Syndrome |
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Hyperglycemia, Ovarian cyst, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes ... |
OMIM:269880 |
Pancreatic Agenesis 1 |
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Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Neonatal insulin-de... |
OMIM:260370 |
Acth Deficiency, Isolated |
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Jaundice, Fasting hypoglycemia, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... |
OMIM:201400 |
Necrotizing Enterocolitis |
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Peritonitis, Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
Perlman Syndrome |
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Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly |
ORPHA:2849 |
Isolated Sedoheptulokinase Deficiency |
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Cholestatic liver disease, Cholestasis, Portal hypertension, Hepatitis, Postprandial hyperglycemia |
ORPHA:440713 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
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Hypoglycemia, Hyperglycemia |
OMIM:615453 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
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Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... |
OMIM:201910 |
Rabson-Mendenhall Syndrome |
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Increased serum testosterone level, Fasting hypoglycemia, Enlarged ovaries, Impaired glucose tole... |
ORPHA:769 |
Beta-Ketothiolase Deficiency |
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Hypoglycemia, Hepatomegaly, Hyperglycemia |
ORPHA:134 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
Dend Syndrome |
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Hyperglycemia |
ORPHA:79134 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Decreased circulating ... |
OMIM:614736 |
Alstrom Syndrome |
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Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hepatomegaly, Diabetes i... |
OMIM:203800 |
Ornithine Transcarbamylase Deficiency |
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Hypoglycemia, Splenomegaly |
ORPHA:664 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Hepatomegaly, Hyperinsulinemia, Impaired glucose tolerance, Hyperglycemia, Insulin-resistant diab... |
OMIM:248370 |
Polyendocrine-Polyneuropathy Syndrome |
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Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism, Decreased testicular size, T... |
OMIM:616113 |
Fanconi-Bickel Syndrome |
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Intrahepatic cholestasis, Hepatomegaly, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia |
OMIM:227810 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Biliary atresia, Pancreatic hypoplasia, Glycosuria, Hyperglycemia, Absent gallbladder, Diabetes m... |
OMIM:600001 |
Duodenal Atresia |
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Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
Annular Pancreas |
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Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
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Annular pancreas |
OMIM:167750 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Cholangitis, Periportal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Hyperglycemia, R... |
OMIM:124000 |
Leprechaunism |
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Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Increased circulating renin level, Central ... |
ORPHA:508 |
Multiple Endocrine Neoplasia, Type I |
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Glucagonoma, Adenoma sebaceum, Adrenocortical adenoma, Pancreatic islet cell adenoma, Hypoglycemi... |
OMIM:131100 |
Pyruvate Carboxylase Deficiency |
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Hypoglycemia, Hepatomegaly, Hyperglycemia |
ORPHA:3008 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
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Hypoglycemia, Hyperglycemia |
OMIM:620423 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... |
ORPHA:293987 |
Scorpion Envenomation |
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Acute pancreatitis, Glycosuria, Hyperhidrosis, Hyperglycemia |
ORPHA:466677 |
Thyrotoxic Periodic Paralysis |
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Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos... |
ORPHA:79102 |
Atypical Werner Syndrome |
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Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Ovarian neoplasm, Abnormal test... |
ORPHA:79474 |
Igg4-Related Thyroid Disease |
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Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse ... |
ORPHA:64744 |
Martinez-Frias Syndrome |
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Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... |
OMIM:601346 |
Glycogen Storage Disease Ib |
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Delayed puberty, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Splenomegaly, Hypoglycemia... |
OMIM:232220 |
Aceruloplasminemia |
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Elevated hepatic iron concentration, Diabetes mellitus, Abnormal pancreas morphology |
ORPHA:48818 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hypothyroidism, Decreased response to growth hormone stimulation test, Hyperglycemia |
ORPHA:444077 |
Renal Cysts And Diabetes Syndrome |
|
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Impaired glucose tolerance, Biliary ... |
OMIM:137920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Increased hepatocellular lipid dro... |
OMIM:220111 |
Bardet-Biedl Syndrome |
|
Impaired fasting glucose, Abnormality of the endocrine system, Hypoplasia of the ovary, Hypothyro... |
ORPHA:110 |
Igg4-Related Submandibular Gland Disease |
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Enlarged lacrimal glands, Prostatitis, Abnormal salivary gland morphology, Cholangitis, Abnormal ... |
ORPHA:449432 |
Beckwith-Wiedemann Syndrome |
|
Neonatal hypoglycemia, Hepatomegaly, Abnormal pancreas morphology, Adrenocortical carcinoma, Pseu... |
ORPHA:116 |