Multiple Symmetric Lipomatosis |
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Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
Type 2 Diabetes Mellitus |
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Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Hyperinsulinism Due To Insr Deficiency |
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Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Lipodystrophy, Familial Partial, Type 4 |
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Lipoatrophy, Lipodystrophy, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Reduced subcutaneous adipose tissue, Hypocalcemia, Generalized lipodystrophy, Lipodystrophy, Hype... |
OMIM:612526 |
Mandibuloacral Dysplasia |
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Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
Insulin Autoimmune Syndrome |
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Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Lipodystrophy, Familial Partial, Type 3 |
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Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Loss of gluteal... |
OMIM:604367 |
Morbid Obesity And Spermatogenic Failure |
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Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
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Insulin resistance |
OMIM:200170 |
Familial Partial Lipodystrophy, Köbberling Type |
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Hyperinsulinemia, Pancreatitis, Lipoatrophy, Diabetes mellitus, Insulin resistance |
ORPHA:79084 |
Diabetes Mellitus, Ketosis-Prone |
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Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Glucose intolerance, Hyperlipidemia, Gout, Impaired glucose tolerance, Hypertriglyceridemia, Diab... |
OMIM:610947 |
Akt2-Related Familial Partial Lipodystrophy |
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Hyperlipidemia, Lipodystrophy, Hypertriglyceridemia, Increased intraabdominal fat, Insulin-resist... |
ORPHA:79085 |
Lipodystrophy, Familial Partial, Type 6 |
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Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
Growth Hormone Insensitivity Syndrome |
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Type II diabetes mellitus, Hypoglycemia, Hypercholesterolemia, Insulin resistance, Diabetes mellitus |
ORPHA:181393 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
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Insulin resistance |
ORPHA:140941 |
Lipodystrophy, Familial Partial, Type 1 |
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Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... |
OMIM:608600 |
Lipe-Related Familial Partial Lipodystrophy |
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Increased adipose tissue around the neck, Hyperlipidemia, Loss of gluteal subcutaneous adipose ti... |
ORPHA:435660 |
Lipase Deficiency, Combined |
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Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Body Mass Index Quantitative Trait Locus 19 |
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Insulin resistance, Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia |
OMIM:617885 |
Acquired Partial Lipodystrophy |
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Insulin resistance, Lipoatrophy |
ORPHA:79087 |
Cortisone Reductase Deficiency 2 |
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Insulin resistance |
OMIM:614662 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... |
ORPHA:71212 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Gen... |
ORPHA:363400 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
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Flexion contracture, Lipodystrophy, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance |
OMIM:615381 |
Pparg-Related Familial Partial Lipodystrophy |
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Pancreatitis, Lipoatrophy, Insulin resistance, Maternal diabetes, Hypertriglyceridemia, Insulin-r... |
ORPHA:79083 |
Primary Lipodystrophy |
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Type II diabetes mellitus, Lipoatrophy, Pancreatitis, Hyperlipidemia, Lipodystrophy, Insulin resi... |
ORPHA:90970 |
Plin1-Related Familial Partial Lipodystrophy |
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Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Lipoatrophy, Pancreatitis, Cellulitis, Lipodystrophy, Hypertriglyceridemia, Diabetes mellitus, In... |
ORPHA:2348 |
D-Glyceric Aciduria |
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Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Hyperlipoproteinemia, Type Iv |
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Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:144600 |
Hypertriglyceridemia 1 |
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Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:145750 |
Congenital Generalized Lipodystrophy |
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Hyperinsulinemia, Increased C-peptide level, Lipodystrophy, Hypertriglyceridemia, Adipose tissue ... |
ORPHA:528 |
Congenital Disorder Of Glycosylation, Type Im |
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Hypoketotic hypoglycemia, Inflammatory abnormality of the skin, Increased circulating free fatty ... |
OMIM:610768 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Inflammatory abnormality of the skin, Hypocalcemia, Hypoproteinemia, Hyperammonemia, Hypoketotic ... |
ORPHA:26793 |
Familial Multiple Lipomatosis |
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Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue |
ORPHA:199276 |
Acquired Generalized Lipodystrophy |
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Hyperinsulinemia, Abnormal circulating lipid concentration, Generalized lipodystrophy, Acute panc... |
ORPHA:79086 |
Insulin-Resistance Syndrome Type B |
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Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Pneumonia, Hyperglyc... |
ORPHA:2298 |
Growth Factors, Combined Defect Of |
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Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ... |
OMIM:233805 |
Cidec-Related Familial Partial Lipodystrophy |
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Hyperlipidemia, Pancreatitis, Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Hypertr... |
ORPHA:435651 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
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Hypertriglyceridemia, Insulin-resistant diabetes mellitus |
ORPHA:436182 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Pancr... |
ORPHA:280365 |
Lipodystrophy, Familial Partial, Type 2 |
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Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:151660 |
Cerebrooculofacioskeletal Syndrome 1 |
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Joint contracture of the hand, Flexion contracture, Insulin resistance, Camptodactyly, Elbow flex... |
OMIM:214150 |
Seckel Syndrome 10 |
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Glucose intolerance, Elevated hemoglobin A1c, Glycosuria, Impaired glucose tolerance, Acute pancr... |
OMIM:617253 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Insulin resistance, Insulin-resistant diabetes mellitus |
ORPHA:90301 |
Estrogen Resistance |
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Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance, Acne |
OMIM:615363 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Calcinosis |
ORPHA:90154 |
Short Syndrome |
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Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Abnormal dental enamel mor... |
ORPHA:3163 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Hyperinsulinemia, Flexion contracture, Elevated circulating creatine kinase concentration, Lipody... |
OMIM:613327 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Hypoglycemia, Neonatal hyperbilirubinemia, Insulin resistance |
ORPHA:73272 |
Whipple Disease |
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Myositis, Myocarditis, Arthritis, Uveitis, Infectious encephalitis, Hyponatremia, Insulin resista... |
ORPHA:3452 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Rabson-Mendenhall Syndrome |
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Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Hypokalemia, Diabetic ketoacidos... |
ORPHA:769 |
Placental Insufficiency |
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Insulin resistance |
ORPHA:439167 |
Dopamine Beta-Hydroxylase Deficiency |
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Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... |
ORPHA:230 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... |
OMIM:608612 |
Lipodystrophy, Familial Partial, Type 7 |
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Reduced subcutaneous adipose tissue, Glucose intolerance, Decreased adipose tissue around neck, I... |
OMIM:606721 |
Werner Syndrome |
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Type II diabetes mellitus, Lipoatrophy, Chondrocalcinosis, Lipodystrophy, Insulin resistance |
ORPHA:902 |
Marbach-Rustad Progeroid Syndrome |
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Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Mody |
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Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... |
ORPHA:552 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Insulin resistance, Hyperlipidemia, Flexion contracture |
ORPHA:90153 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Insulin resistance, Abnormal circulating lipid concentration, Inguinal hernia, Diabetes mellitus |
OMIM:616541 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:248370 |
Thalidomide Embryopathy |
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Chronic rhinitis, Insulin resistance |
ORPHA:3312 |
Gitelman Syndrome |
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Glucose intolerance, Hypomagnesemia, Type II diabetes mellitus, Hypokalemia, Hypocalcemia, Diabet... |
ORPHA:358 |
Bloom Syndrome |
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Cheilitis, Skin rash, Otitis media, Uveitis, Pneumonia, Adipose tissue loss, Insulin resistance, ... |
ORPHA:125 |
Aromatase Deficiency |
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Insulin resistance, Hyperlipidemia, Type II diabetes mellitus |
ORPHA:91 |
Leprechaunism |
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Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Hyperinsulinemia, Hypokalemia, I... |
ORPHA:508 |
Monosomy 13Q34 |
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Insulin resistance, Infantile hypercalcemia |
ORPHA:96168 |
Silver-Russell Syndrome |
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Insulin resistance, Recurrent hypoglycemia |
ORPHA:813 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Fasting hypoglycemia, Esophagitis, Insulin resistance |
ORPHA:96182 |
Bardet-Biedl Syndrome 1 |
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Insulin resistance, Diabetes mellitus |
OMIM:209900 |
Steinert Myotonic Dystrophy |
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Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Diabetes mellitus |
ORPHA:273 |
Hutchinson-Gilford Progeria Syndrome |
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Insulin resistance, Absence of subcutaneous fat, Osteoarthritis |
ORPHA:740 |
Pmm2-Cdg |
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Multiple joint contractures, Hyperinsulinemia, Aspiration pneumonia, Reduced thyroxin-binding glo... |
ORPHA:79318 |
Alström Syndrome |
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Type II diabetes mellitus, Pancreatitis, Hyperinsulinemia, Hyperlipidemia, Otitis media, Insulin ... |
ORPHA:64 |
Idiopathic Pulmonary Fibrosis |
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Bronchiectasis |
ORPHA:2032 |