Multiple Symmetric Lipomatosis |
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Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Reduced subcutan... |
OMIM:612526 |
Morbid Obesity And Spermatogenic Failure |
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Insulin resistance, Increased LDL cholesterol concentration, Obesity, Type II diabetes mellitus, ... |
OMIM:615703 |
Type 2 Diabetes Mellitus |
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Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
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Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity |
ORPHA:140941 |
Hyperinsulinism Due To Insr Deficiency |
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Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
Lipodystrophy, Familial Partial, Type 3 |
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Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
Akt2-Related Familial Partial Lipodystrophy |
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Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
Cortisone Reductase Deficiency 2 |
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Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... |
OMIM:614662 |
Insulin Autoimmune Syndrome |
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Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
Lipodystrophy, Familial Partial, Type 4 |
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Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... |
OMIM:613877 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... |
OMIM:240900 |
Transient Neonatal Diabetes Mellitus |
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Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie... |
ORPHA:99886 |
Lipe-Related Familial Partial Lipodystrophy |
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Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... |
ORPHA:435660 |
Familial Partial Lipodystrophy, Köbberling Type |
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Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... |
ORPHA:79084 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
Glycogen Storage Disease Vi |
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Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... |
OMIM:232700 |
Lipodystrophy, Familial Partial, Type 6 |
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Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... |
OMIM:615980 |
Body Mass Index Quantitative Trait Locus 19 |
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Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertrigl... |
OMIM:617885 |
Mody |
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Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... |
ORPHA:552 |
Diabetes Mellitus, Ketosis-Prone |
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Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
Chylomicron Retention Disease |
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Hypoalbuminemia, Diarrhea, Vomiting, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia,... |
OMIM:246700 |
Lipodystrophy, Familial Partial, Type 1 |
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Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Insulin-... |
OMIM:608600 |
Proprotein Convertase 1/3 Deficiency |
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Diarrhea, Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Decrease... |
OMIM:600955 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
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Insulin resistance |
OMIM:200170 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Intrahepatic cholestasis, Hepatic failure, Diarrhea, Elevated circulating hepatic transaminase co... |
OMIM:607765 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... |
ORPHA:363400 |
Plin1-Related Familial Partial Lipodystrophy |
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Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Loss ... |
ORPHA:280356 |
Congenital Generalized Lipodystrophy |
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Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s... |
ORPHA:528 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
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Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... |
OMIM:615381 |
Mandibuloacral Dysplasia |
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Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... |
ORPHA:2457 |
Acquired Partial Lipodystrophy |
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Insulin resistance, Lipoatrophy, Hepatic steatosis |
ORPHA:79087 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... |
ORPHA:71529 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty,... |
OMIM:616834 |
Pparg-Related Familial Partial Lipodystrophy |
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Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... |
ORPHA:79083 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly |
OMIM:610539 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Lipodystrophy, Pancreatitis, Los... |
ORPHA:2348 |
Acquired Generalized Lipodystrophy |
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Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus... |
ORPHA:79086 |
Cidec-Related Familial Partial Lipodystrophy |
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Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... |
ORPHA:435651 |
Pancreatic Lipase Deficiency |
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Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
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Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... |
ORPHA:436182 |
Chylomicron Retention Disease |
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Diarrhea, Vomiting, Failure to thrive, Elevated circulating hepatic transaminase concentration, H... |
ORPHA:71 |
Insulin-Resistance Syndrome Type B |
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Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Increa... |
ORPHA:280365 |
Solitary Fibrous Tumor |
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Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the liver, Constipati... |
ORPHA:2126 |
Hypobetalipoproteinemia, Familial, 1 |
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Hypocholesterolemia, Elevated circulating aspartate aminotransferase concentration, Hypertriglyce... |
OMIM:615558 |
Peroxisome Biogenesis Disorder 3B |
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Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Hepatom... |
OMIM:266510 |
Lipodystrophy, Familial Partial, Type 2 |
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Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Increased adipose t... |
OMIM:151660 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H... |
OMIM:613327 |
Polyendocrine-Polyneuropathy Syndrome |
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Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... |
ORPHA:453533 |
Potocki-Lupski Syndrome |
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Gastroesophageal reflux, Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Hypot... |
OMIM:610883 |
Osteogenesis Imperfecta, Type Xxiii |
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Insulin resistance, Truncal obesity |
OMIM:620639 |
Seckel Syndrome 10 |
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Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... |
OMIM:617253 |
Congenital Disorder Of Glycosylation, Type Il |
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Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystrophy, Hepatomegaly |
OMIM:608776 |
Squalene Synthase Deficiency |
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Failure to thrive in infancy, Hypocholesterolemia, Elbow flexion contracture, Knee flexion contra... |
OMIM:618156 |
Familial Multiple Lipomatosis |
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Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue |
ORPHA:199276 |
Cerebrooculofacioskeletal Syndrome 1 |
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Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... |
OMIM:214150 |
Short Syndrome |
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Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... |
OMIM:269880 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, T... |
ORPHA:73272 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hypoalbuminemia, Hepatic fibrosis, Vomiting, Diarrhea, Failure to thrive, Elevated circulating he... |
OMIM:212065 |
Placental Insufficiency |
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Insulin resistance, Small for gestational age |
ORPHA:439167 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Type I diabetes mellitus, Diarrhea, Hypocholesterolemia, Abetalipoproteinemia, Elevated circulati... |
ORPHA:96180 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... |
ORPHA:90301 |
Low Phospholipid-Associated Cholelithiasis |
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Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
Dopamine Beta-Hydroxylase Deficiency |
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Insulin resistance, Vomiting, Diarrhea, Hypoglycemia, Elevated circulating creatinine concentrati... |
ORPHA:230 |
Lipodystrophy, Familial Partial, Type 7 |
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Insulin resistance, Type I diabetes mellitus, Diarrhea, Vomiting, Failure to thrive, Glucose into... |
OMIM:606721 |
Abetalipoproteinemia |
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Hypoalbuminemia, Hepatic fibrosis, Vomiting, Hypotriglyceridemia, Failure to thrive, Elevated cir... |
ORPHA:14 |
Short Syndrome |
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Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Weight loss, Lipodystroph... |
ORPHA:3163 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... |
OMIM:605814 |
Whipple Disease |
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Insulin resistance, Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Hyponatremia, Cachexia, ... |
ORPHA:3452 |
Aromatase Deficiency |
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Insulin resistance, Obesity, Eunuchoid habitus, Hyperlipidemia, Type II diabetes mellitus, Hepati... |
ORPHA:91 |
Rabson-Mendenhall Syndrome |
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Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... |
ORPHA:769 |
Silver-Russell Syndrome |
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Insulin resistance, Premature adrenarche, Precocious puberty, Gastroesophageal reflux, Recurrent ... |
ORPHA:813 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hepatomegaly, Hypocholesterolemia |
OMIM:618810 |
Monosomy 13Q34 |
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Insulin resistance, Hematochezia, Obesity, Hepatic steatosis, Hypercalcemia |
ORPHA:96168 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Delayed puberty, Calcinosis |
ORPHA:90154 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... |
OMIM:262190 |
Alg12-Cdg |
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Hypoalbuminemia, Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration... |
ORPHA:79324 |
Werner Syndrome |
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Insulin resistance, Chondrocalcinosis, Hypogonadism, Slender build, Thyroid carcinoma, Type II di... |
ORPHA:902 |
Tenorio Syndrome |
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Hypoinsulinemia, Recurrent aphthous stomatitis, Gastroesophageal reflux, Hypoglycemia |
OMIM:616260 |
Leprechaunism |
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Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera... |
ORPHA:508 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Insulin resistance, Premature adrenarche, Precocious puberty, Vomiting, Gastroesophageal reflux, ... |
ORPHA:96182 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Insulin resistance, Abnormal circulating lipid concentration, Inguinal hernia, Hypothyroidism, Tr... |
OMIM:616541 |
Pancreatic Agenesis 1 |
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Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreatic hypoplasia, Exocrine ... |
OMIM:260370 |
Secondary Intestinal Lymphangiectasia |
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Hypoalbuminemia, Intestinal bleeding, Vomiting, Secondary hyperaldosteronism, Reduced circulating... |
ORPHA:90363 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... |
OMIM:248370 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... |
OMIM:608612 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes... |
OMIM:615812 |
Gitelman Syndrome |
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Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Diarrhea, Chondrocalcinosis, Failu... |
ORPHA:358 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Insulin resistance, Flexion contracture, Hyperlipidemia |
ORPHA:90153 |
Bardet-Biedl Syndrome 1 |
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Insulin resistance, Hepatic fibrosis, Hypogonadism, Obesity, Biliary tract abnormality, Nephrogen... |
OMIM:209900 |
Marbach-Rustad Progeroid Syndrome |
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Insulin resistance, Reduced subcutaneous adipose tissue |
OMIM:619322 |
Bloom Syndrome |
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Insulin resistance, Gastroesophageal reflux, Adipose tissue loss, Abdominal obesity, Diabetes mel... |
ORPHA:125 |
Kaufman Oculocerebrofacial Syndrome |
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Hypocholesterolemia, Constipation, Failure to thrive |
OMIM:244450 |
Dubowitz Syndrome |
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Gastroesophageal reflux, Hypocholesterolemia, Inguinal hernia, Episodic vomiting, Chronic diarrhea |
OMIM:223370 |
Steinert Myotonic Dystrophy |
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Insulin resistance, Cholelithiasis, Diarrhea, Elevated circulating hepatic transaminase concentra... |
ORPHA:273 |
Tangier Disease |
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Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia |
ORPHA:31150 |
Smith-Lemli-Opitz Syndrome |
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Hypoalbuminemia, Cholestatic liver disease, Precocious puberty, Vomiting, Gastroesophageal reflux... |
OMIM:270400 |
Bardet-Biedl Syndrome |
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Insulin resistance, Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating h... |
ORPHA:110 |
Thalidomide Embryopathy |
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Insulin resistance |
ORPHA:3312 |
Alström Syndrome |
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Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly, Type II diabetes me... |
ORPHA:64 |
Pmm2-Cdg |
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Insulin resistance, Hypoalbuminemia, Hepatic fibrosis, Vomiting, Elevated circulating hepatic tra... |
ORPHA:79318 |
Hutchinson-Gilford Progeria Syndrome |
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Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Severe failure to thrive, Weig... |
ORPHA:740 |