| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
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Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Hyperinsulinism Due To Insr Deficiency |
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Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
| Iron Overload, Susceptibility To |
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Increased circulating ferritin concentration, Type II diabetes mellitus, Elevated hepatic iron co... |
OMIM:620121 |
| Glycogen Storage Disease 0, Liver |
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Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Hyperferritinemia With Or Without Cataract |
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Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... |
OMIM:600886 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Congenital Glucokinase-Related Hyperinsulinism |
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Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
| Cataract 47 |
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Cataract, Microcornea, Glycosuria |
OMIM:612018 |
| Corneal Dystrophy, Groenouw Type I |
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Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
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Hypoglycemia |
OMIM:223500 |
| Fructose And Galactose Intolerance |
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Hypoglycemia |
OMIM:229500 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
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Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:618858 |
| Neonatal Hemochromatosis |
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Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentration |
ORPHA:446 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Diabetes Mellitus, Transient Neonatal, 3 |
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Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
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Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:616329 |
| Diabetes Mellitus, Transient Neonatal, 1 |
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Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Glycogen Storage Disease Vi |
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Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia |
OMIM:232700 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
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Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
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Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
| Cataract-Microcornea Syndrome |
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Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Hemochromatosis, Type 5 |
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Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... |
OMIM:615517 |
| Insulin Autoimmune Syndrome |
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Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... |
ORPHA:411593 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
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Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Hemochromatosis, Type 4 |
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Cataract, Increased circulating ferritin concentration, Glucose intolerance, Elevated transferrin... |
OMIM:606069 |
| Hemochromatosis, Neonatal |
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Abnormality of iron homeostasis, Increased circulating iron concentration, Hypoglycemia, Increase... |
OMIM:231100 |
| X-Linked Sideroblastic Anemia |
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Abnormality of iron homeostasis, Glucose intolerance |
ORPHA:75563 |
| Anterior Segment Dysgenesis 8 |
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Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Hyperinsulinism-Hyperammonemia Syndrome |
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Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... |
ORPHA:35878 |
| Exfoliation Syndrome |
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Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... |
OMIM:620211 |
| Hjv Or Hamp-Related Hemochromatosis |
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Abnormality of iron homeostasis, Elevated transferrin saturation, Diabetes mellitus, Increased ci... |
ORPHA:79230 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
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Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
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Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level |
OMIM:618856 |
| Type 1 Diabetes Mellitus |
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Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration |
ORPHA:6 |
| Megalocornea |
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Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Increased circulating ferritin concentration |
OMIM:205950 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Hypoglycemia |
ORPHA:67048 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Matern... |
ORPHA:99886 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Hyperglycemia |
OMIM:618970 |
| Gracile Syndrome |
|
Increased circulating iron concentration, Increased serum pyruvate, Increased circulating ferriti... |
OMIM:603358 |
| Propionic Acidemia |
|
Hyperammonemia, Hypoglycemia |
ORPHA:35 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hypoglycemia |
ORPHA:664 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
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Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... |
OMIM:615160 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
| Hypoadrenocorticism, Familial |
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Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
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Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
| Galactokinase Deficiency |
|
Cataract, Nuclear cataract, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level... |
ORPHA:79237 |
| Lipodystrophy, Familial Partial, Type 3 |
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Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia |
OMIM:306000 |
| Mody |
|
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
| Aceruloplasminemia |
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Decreased circulating iron concentration, Diabetes mellitus, Aceruloplasminemia, Increased circul... |
OMIM:604290 |
| Ectopia Lentis Et Pupillae |
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Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased circulating iron concentration, Elevated hepatic iron concentration |
OMIM:206100 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
| Cataract 5, Multiple Types |
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Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus |
OMIM:616026 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... |
OMIM:615812 |
| Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Glycosuria,... |
ORPHA:2298 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Elevated hepatic iron concentration, Increased circulating ferr... |
ORPHA:53693 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Hyperglycemia, Abnormality of iron homeostasis, Ele... |
ORPHA:465508 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:613986 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:848 |
| Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Diabetes mellitus, Elevated hepatic iron concentration |
ORPHA:231222 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Diabetes mellitus |
ORPHA:231226 |
| Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Diabetes mellitus |
ORPHA:231214 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Abnormality of iro... |
OMIM:222470 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Increased total iron binding capacity, Hyperglycin... |
ORPHA:309854 |
| Syndromic Diarrhea |
|
Abnormality of iron homeostasis |
ORPHA:84064 |
