Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Hypoglycemia |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Transient Neonatal Diabetes Mellitus |
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Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoth... |
ORPHA:99886 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
Mody |
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Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... |
ORPHA:552 |
Insulinomatosis And Diabetes Mellitus |
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Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... |
OMIM:147630 |
Diabetes Mellitus, Ketosis-Prone |
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Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
Polyendocrine-Polyneuropathy Syndrome |
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Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decreased testi... |
ORPHA:453533 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
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Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Nphp3-Related Meckel-Like Syndrome |
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Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology |
ORPHA:3032 |
Familial Partial Lipodystrophy, Köbberling Type |
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Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... |
ORPHA:79084 |
Proprotein Convertase 1/3 Deficiency |
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Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi... |
OMIM:600955 |
Dietary Iron Overload Disease |
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Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... |
ORPHA:139507 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
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Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
Hemochromatosis, Type 4 |
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Glucose intolerance, Hepatic steatosis, Cirrhosis, Hepatomegaly, Diabetes mellitus, Impaired gluc... |
OMIM:606069 |
Solitary Fibrous Tumor |
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Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Abnormal peritoneum morphology, Hypo... |
ORPHA:2126 |
Medullary Thyroid Carcinoma |
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Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn... |
ORPHA:1332 |
Hypertriglyceridemia 1 |
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Hypopituitarism, Glucose intolerance |
OMIM:145750 |
Tropical Pancreatitis |
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Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... |
ORPHA:103918 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
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Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hypothyroidism, Abnormal liver parenc... |
ORPHA:456312 |
Hepatoportal Sclerosis |
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Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... |
ORPHA:64743 |
Perlman Syndrome |
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Hepatomegaly, Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology |
ORPHA:2849 |
Citrullinemia, Type Ii, Adult-Onset |
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Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... |
OMIM:603471 |
Pancreatitis, Hereditary |
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Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... |
OMIM:167800 |
Estrogen Resistance |
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Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... |
OMIM:615363 |
Pancreatic Agenesis 2 |
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Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Porphyria Cutanea Tarda |
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Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
Mitchell-Riley Syndrome |
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Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder, Biliary ... |
OMIM:615710 |
Tenorio Syndrome |
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Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
Tropical Calcific Pancreatitis |
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Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... |
OMIM:608189 |
Seckel Syndrome 10 |
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Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... |
OMIM:617253 |
Igg4-Related Thyroid Disease |
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Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid... |
ORPHA:64744 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
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Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:208085 |
Renal Cysts And Diabetes Syndrome |
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Elevated circulating hepatic transaminase concentration, Maturity-onset diabetes of the young, Gl... |
OMIM:137920 |
Aceruloplasminemia |
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Elevated hepatic iron concentration, Abnormal pancreas morphology, Diabetes mellitus |
ORPHA:48818 |
Diaphanospondylodysostosis |
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Abnormal liver lobulation |
OMIM:608022 |
Mosaic Trisomy 9 |
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Asplenia, Cryptorchidism, Abnormal liver lobulation |
ORPHA:99776 |
Igg4-Related Submandibular Gland Disease |
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Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... |
ORPHA:449432 |
Fanconi Anemia, Complementation Group D2 |
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Prolonged G2 phase of cell cycle, Annular pancreas, Cryptorchidism, Hypergonadotropic hypogonadism |
OMIM:227646 |
Liver Disease, Severe Congenital |
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Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:619991 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
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Hepatic sinusoidal dilatation, Pancreatitis, Splenic cyst, Cryptorchidism |
OMIM:620371 |
Fanconi Anemia, Complementation Group E |
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Prolonged G2 phase of cell cycle, Cryptorchidism, Hypergonadotropic hypogonadism |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
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Prolonged G2 phase of cell cycle, Cryptorchidism, Hypergonadotropic hypogonadism |
OMIM:227650 |
Sarcoidosis |
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Enlarged lacrimal glands, Hepatic failure, Decreased liver function, Parotitis, Portal hypertensi... |
ORPHA:797 |
Fanconi Anemia, Complementation Group C |
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Prolonged G2 phase of cell cycle, Cryptorchidism, Hypergonadotropic hypogonadism |
OMIM:227645 |
Pmm2-Cdg |
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Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, El... |
ORPHA:79318 |