Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... |
OMIM:232700 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Reduced subcutan... |
OMIM:612526 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... |
OMIM:615703 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... |
ORPHA:71529 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... |
OMIM:619868 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Hypoketotic hypoglycemia, Increased hepatic glycogen content, Nonketot... |
ORPHA:293964 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Obesity |
|
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio |
OMIM:601665 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... |
OMIM:608600 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... |
OMIM:306000 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Decreased HDL choleste... |
OMIM:151660 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia |
OMIM:615863 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... |
ORPHA:75234 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... |
OMIM:615980 |
Congenital Generalized Lipodystrophy |
|
Insulin resistance, Failure to thrive, Hyperinsulinemia, Hepatic steatosis, Adipose tissue loss, ... |
ORPHA:528 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Obesity, Abnormal circulating selenium concentration, Fasting hypoglycemia |
ORPHA:171706 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... |
OMIM:620211 |
Galactokinase Deficiency |
|
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Hyperch... |
ORPHA:79237 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer... |
OMIM:615812 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Temple Syndrome |
|
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal obesity, Hypertrigly... |
OMIM:616222 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... |
OMIM:614662 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Cholestasis, Obesity, Hyperinsulinemia, Childhood-onset truncal obesity, Hypog... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Cholestasis, Obesity, Hyperinsulinemia, Childhood-onset truncal obesity, Hypog... |
ORPHA:71526 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... |
OMIM:605814 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Failure to thrive in infancy, Hepatomegaly, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Acute hepatic failure, Increased LDL cholesterol concentration, Hepato... |
OMIM:278000 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... |
ORPHA:2457 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... |
ORPHA:86816 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity... |
ORPHA:209902 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Maturity-onset diabetes of the young, Large for gestational age, Hyperinsu... |
ORPHA:324575 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Obesity, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
Laron Syndrome |
|
Hypoglycemia, Hypercholesterolemia, Truncal obesity |
ORPHA:633 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Hepatic stea... |
ORPHA:412 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Hepatic Veno-Occlusive Disease |
|
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Incr... |
ORPHA:890 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Adiposis Dolorosa |
|
Painful subcutaneous lipomas, Obesity |
OMIM:103200 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Morgagni-Stewart-Morel Syndrome |
|
Obesity, Hypercholesterolemia, Hyperuricemia, Diabetes mellitus |
ORPHA:77296 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... |
OMIM:614480 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... |
OMIM:620454 |
Mody |
|
Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc... |
ORPHA:552 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Obesity And Hypopigmentation |
|
Overgrowth, Obesity, Hepatic steatosis, Hyperinsulinemia |
OMIM:620195 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity |
ORPHA:140941 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... |
ORPHA:79240 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal obesity, Small for g... |
ORPHA:96184 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... |
OMIM:207750 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity, Inguinal hernia |
OMIM:300209 |
Cog4-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple... |
ORPHA:263501 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:264580 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transie... |
ORPHA:99886 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Type I... |
OMIM:618620 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract... |
OMIM:248370 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Elevated circulating hepatic transa... |
ORPHA:247585 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ... |
ORPHA:276575 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa... |
ORPHA:247598 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Overweight, Hypercholesterolemia |
ORPHA:401923 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Large for ge... |
ORPHA:276556 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Cardiomegaly |
ORPHA:88643 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ... |
ORPHA:276580 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity |
ORPHA:85274 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... |
ORPHA:2089 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Subaortic Stenosis-Short Stature Syndrome |
|
Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Inguinal hernia, Bi... |
ORPHA:3191 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Obesity |
OMIM:620270 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Obesity, Reactive hypoglycemia, Hypoinsulinemia |
OMIM:600955 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Flexion contracture, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, Hepatic st... |
ORPHA:79085 |
Body Mass Index Quantitative Trait Locus 20 |
|
Tall stature, Obesity, Hyperinsulinemia |
OMIM:618406 |
Smith-Magenis Syndrome |
|
Increased body weight, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus... |
ORPHA:435660 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, H... |
ORPHA:263455 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia |
OMIM:601410 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, ... |
OMIM:615238 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Nephronophthisis 15 |
|
Obesity, Elevated circulating hepatic transaminase concentration |
OMIM:614845 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Obesity |
OMIM:613670 |
Mehmo Syndrome |
|
Obesity, Small for gestational age, Hypoglycemia |
OMIM:300148 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Cholestasis, Obesity, Hyperbilirubinemia, Decreased circulating cortisol level, Hypoglycemic seiz... |
OMIM:609734 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Reduced C-pe... |
OMIM:616329 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... |
OMIM:618858 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia... |
ORPHA:98855 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Hepat... |
OMIM:615630 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased body weight, Hyperglycemia, Increased circulating cortisol level, Abdominal obesity |
OMIM:615954 |
Laurence-Moon Syndrome |
|
Obesity, Type II diabetes mellitus, Congenital hepatic fibrosis |
ORPHA:2377 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Increased ... |
OMIM:615830 |
Cidec-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of gluteal subcutaneous adipose tiss... |
ORPHA:435651 |
Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Truncal obesity |
ORPHA:261483 |
Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... |
OMIM:300972 |
Microtriplication 11Q24.1 |
|
Obesity, Hyperlipidemia |
ORPHA:289522 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hepatic failure, Failure to thrive, Glycosuria, Elevated circulating ... |
ORPHA:2088 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Obesity, Keloids, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:3085 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
Blue Diaper Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Increased proinsulin:... |
ORPHA:94086 |
Bardet-Biedl Syndrome 16 |
|
Obesity |
OMIM:615993 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia... |
ORPHA:98863 |
Mehmo Syndrome |
|
Obesity, Diabetes mellitus |
ORPHA:85282 |
Obesity Due To Congenital Leptin Deficiency |
|
Obesity, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:66628 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia... |
ORPHA:98853 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... |
ORPHA:567548 |
Non-Acquired Isolated Growth Hormone Deficiency |
|
Prolonged neonatal jaundice, Neonatal hypoglycemia, Abdominal obesity |
ORPHA:631 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:26793 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decreased adipose ... |
OMIM:608612 |
Gaisböck Syndrome |
|
Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinem... |
ORPHA:90041 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... |
ORPHA:186 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Obesity, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:179494 |
Morm Syndrome |
|
Truncal obesity |
ORPHA:75858 |
Bardet-Biedl Syndrome 2 |
|
Obesity, Diabetes mellitus |
OMIM:615981 |
Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Obesity, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Large for gestational age |
OMIM:617119 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Lipoma, Obesity |
ORPHA:480907 |
Summitt Syndrome |
|
Tall stature, Obesity, Camptodactyly of finger |
ORPHA:3210 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Bardet-Biedl Syndrome 21 |
|
Obesity, Overweight, Elevated circulating hepatic transaminase concentration |
OMIM:617406 |
Trisomy 5P |
|
Obesity |
ORPHA:1742 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:275761 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Decreased adipose tissue around ... |
OMIM:606721 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:444002 |
Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
Bardet-Biedl Syndrome 7 |
|
Obesity |
OMIM:615984 |
Temple Syndrome |
|
Obesity, Type II diabetes mellitus, Small for gestational age, Recurrent hypoglycemia |
ORPHA:254516 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyperinsulinemia, Pancr... |
OMIM:246200 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Obesity, Elevated circulating creatine kinase concentration, Left ventricular hypertrophy, Hypera... |
OMIM:615418 |
Borjeson-Forssman-Lehmann Syndrome |
|
Obesity |
OMIM:301900 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased circulating cortisol level, Hyperaldosteronism, Dorsocervical fat pad, Hyperlipidemia, ... |
ORPHA:189427 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Left ventricular hypertrophy, Hypercholesterolemia |
ORPHA:90065 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Obesity, Inguinal hernia, Hip contracture, Amelogenesis imperfecta, Enamel hypoplasia, Truncal ob... |
OMIM:618363 |
Bardet-Biedl Syndrome 4 |
|
Obesity |
OMIM:615982 |
Bardet-Biedl Syndrome 20 |
|
Pancreatitis, Obesity, Elevated circulating hepatic transaminase concentration, Hypercholesterolemia |
OMIM:619471 |
Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Bardet-Biedl Syndrome 19 |
|
Obesity, Hepatic steatosis |
OMIM:615996 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity, Hypomagnesemia |
OMIM:616418 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu... |
ORPHA:90674 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
Rafiq Syndrome |
|
Flexion contracture, Obesity, Truncal obesity |
OMIM:614202 |
Obesity-Hypoventilation Syndrome |
|
Obesity, Cyanosis |
OMIM:257500 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Aromatase Deficiency |
|
Insulin resistance, Tall stature, Obesity, Eunuchoid habitus, Hyperlipidemia, Hepatic steatosis, ... |
ORPHA:91 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity, Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Intrahepatic cholestasis, Postprandial hyperglycemia, Failure to thrive, Glycosuria... |
OMIM:227810 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity |
OMIM:184700 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Obesity, Truncal obesity |
OMIM:615986 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... |
OMIM:616026 |
Lysinuric Protein Intolerance |
|
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis, Hepatome... |
ORPHA:470 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hepatic stea... |
ORPHA:79259 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Prader-Willi Syndrome |
|
Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive in infancy, Obesity... |
OMIM:176270 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Obesity, Umbilical hernia |
ORPHA:1035 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Obesity |
OMIM:619737 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced haptoglobin level, Elevated circu... |
OMIM:210250 |
Biemond Syndrome Type 2 |
|
Obesity |
ORPHA:141333 |
Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
Osteogenesis Imperfecta, Type Xxiii |
|
Insulin resistance, Truncal obesity |
OMIM:620639 |
48,Xxyy Syndrome |
|
Abnormal dental enamel morphology, Tall stature, Obesity, Type II diabetes mellitus, Inguinal hernia |
ORPHA:10 |
19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia, Arthrogryposis multiplex congenita, Hepatic steatosis, Obesity |
ORPHA:254346 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Leptin Deficiency Or Dysfunction |
|
Obesity |
OMIM:614962 |
Chung-Jansen Syndrome |
|
Obesity |
OMIM:617991 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa... |
ORPHA:905 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Obesity, Overweight |
OMIM:614651 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Abnormal intrahepatic bile duct morphology, Lipoatrophy, Hypertriglyceridemia |
ORPHA:363618 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Hyperglycemia, Portal hypertension, Splenomegaly, C... |
ORPHA:465508 |
Wilson-Turner Syndrome |
|
Truncal obesity |
ORPHA:3459 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Camptodactyly of finger |
ORPHA:2928 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity |
ORPHA:352530 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
Alstrom Syndrome |
|
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Chr... |
OMIM:203800 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body weight, Omphalocele, Increased body mass index |
OMIM:614450 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Primary hypercortisolism, Pancreatitis, Truncal obesity, Pa... |
OMIM:610475 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Truncal obesity... |
ORPHA:73272 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Type II diabetes mellitus, Obesity, Eunuchoid habitus |
ORPHA:2234 |
Baralle-Macken Syndrome |
|
Obesity |
OMIM:619255 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h... |
OMIM:615453 |
Pseudopseudohypoparathyroidism |
|
Obesity, Enamel hypoplasia |
OMIM:612463 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:2233 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Obesity, Umbilical hernia |
ORPHA:171839 |
Bardet-Biedl Syndrome 8 |
|
Obesity |
OMIM:615985 |
Senior-Loken Syndrome 9 |
|
Cholestasis, Hepatic fibrosis, Obesity |
OMIM:616629 |
Clark-Baraitser Syndrome |
|
Obesity |
OMIM:617752 |
Macrocephaly/Autism Syndrome |
|
Obesity, Large for gestational age, Splenomegaly, Overgrowth, Hepatomegaly |
OMIM:605309 |
Carpenter Syndrome |
|
Obesity, Polysplenia, Umbilical hernia |
ORPHA:65759 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hype... |
ORPHA:97279 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Increased circulating chylomicron concentration, Decreased HDL cholesterol con... |
OMIM:615947 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type |
|
Obesity |
OMIM:300238 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Obesity |
ORPHA:177910 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Obesity, Camptodactyly, Flexion contracture, Arthrogryposis multipl... |
OMIM:615547 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity |
OMIM:618124 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity |
ORPHA:2183 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... |
OMIM:269880 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Obesity, Diabetes mellitus |
OMIM:610628 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio... |
ORPHA:440713 |
Distal 16P11.2 Microdeletion Syndrome |
|
Obesity, Hyperuricemia |
ORPHA:261222 |
Leptin Receptor Deficiency |
|
Obesity, Diabetes mellitus |
OMIM:614963 |
Joubert Syndrome 37 |
|
Hepatomegaly, Obesity |
OMIM:619185 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity |
ORPHA:397973 |
15Q24 Microdeletion Syndrome |
|
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Hernia, Small for gestational age |
ORPHA:94065 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Large for gestational age, Inguinal hernia, Overgrowth, Enlarged kidney |
OMIM:618272 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Obesity |
ORPHA:254525 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Maturity-onset diabetes of the young,... |
OMIM:609812 |
14Q11.2 Microduplication Syndrome |
|
Obesity |
ORPHA:261229 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Obesity |
OMIM:604360 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity |
OMIM:618821 |
Pseudohypoparathyroidism, Type Ic |
|
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia |
OMIM:612462 |
Pseudopseudohypoparathyroidism |
|
Obesity |
ORPHA:79445 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Obesity, Abnormal circulating acylcarnitine concentration |
OMIM:620191 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Wagr Syndrome |
|
Obesity |
ORPHA:893 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperglycemia, Hyperbilirubinemia,... |
OMIM:615710 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Tall stature, Obesity |
OMIM:620439 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Tall stature, Obesity |
OMIM:618089 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity |
ORPHA:411515 |
Atkin-Flaitz Syndrome |
|
Obesity |
ORPHA:1193 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity |
OMIM:615633 |
6Q16 Microdeletion Syndrome |
|
Obesity |
ORPHA:171829 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
13Q12.3 Microdeletion Syndrome |
|
Camptodactyly, Obesity, Congenital diaphragmatic hernia, Failure to thrive |
ORPHA:412035 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age |
OMIM:618857 |
Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
Clark-Baraitser syndrome |
|
Tall stature, Obesity |
OMIM:300602 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Obesity, Diabetes mellitus |
OMIM:614613 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Obesity, Failure to thrive, Polysplenia |
OMIM:610543 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Obesity |
ORPHA:464282 |
Joubert Syndrome 10 |
|
Obesity, Decreased body weight |
OMIM:300804 |
Urban-Rogers-Meyer Syndrome |
|
Obesity, Camptodactyly of finger, Flexion contracture of toe |
ORPHA:3409 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Joubert Syndrome 8 |
|
Prolonged neonatal jaundice, Hepatomegaly, Obesity |
OMIM:612291 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity |
OMIM:619854 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Increased blood urea nitrogen, Hypercalcemia, Enlarge... |
ORPHA:251004 |
Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Obesity, Hypocalcemia, ... |
ORPHA:247353 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Laurence-Moon Syndrome |
|
Obesity |
OMIM:245800 |
Monosomy 13Q34 |
|
Insulin resistance, Obesity, Hypercalcemia, Hepatic steatosis |
ORPHA:96168 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased body weight, Type II diabetes mellitus, Small for gestational age, Diabetes mellitus |
OMIM:274300 |
Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Hyperaldosteronism, Hypokalemia, Increased body weight, Ele... |
ORPHA:1501 |
Bardet-Biedl Syndrome 6 |
|
Obesity, Diabetes mellitus |
OMIM:605231 |
Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Obesity, Hypocalcemic tetany, Enamel hypoplasia |
OMIM:103580 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Decreased body weight, Lipodystrophy, Truncal obesity, Diabe... |
OMIM:270450 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Wrist flexion contracture, Flexion contracture, Obesity |
OMIM:300055 |
Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Obesity |
ORPHA:2180 |
Pituitary Adenoma 4, Acth-Secreting |
|
Obesity, Glucose intolerance, Hypokalemia, Abdominal obesity, Impaired glucose tolerance |
OMIM:219090 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Flexion contracture of digit, Reduced subcutaneous adipose tissue, Truncal obesity |
ORPHA:3041 |
X-Linked Intellectual Disability, Hedera Type |
|
Obesity, Left ventricular hypertrophy |
ORPHA:93952 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Primary hypercortisolism, Increased circulating cortisol level, Truncal obesity |
OMIM:219080 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity |
OMIM:613192 |
Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Weight loss, Hepatomegaly |
ORPHA:134 |
Necrotizing Enterocolitis |
|
Ascites, Hyperglycemia, Abnormal glucose homeostasis, Cyanosis, Hyponatremia, Peritonitis, Small ... |
ORPHA:391673 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity |
OMIM:618160 |
Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Camptodactyly of... |
OMIM:175700 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Hypotriglyceridemia, Elevated circulating hepatic tran... |
ORPHA:404454 |
X-Linked Intellectual Disability, Stevenson Type |
|
Tall stature, Obesity |
ORPHA:85325 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Truncal obesity, Umbilical hernia |
ORPHA:284180 |
Alagille Syndrome 1 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol... |
OMIM:118450 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Obesity |
ORPHA:3077 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Obesity |
OMIM:301013 |
Bdv Syndrome |
|
Obesity, Type II diabetes mellitus, Hyperinsulinemia |
OMIM:619326 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Primary hypercortisol... |
OMIM:610489 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Abdominal obesity |
OMIM:300869 |
Cornelia De Lange Syndrome 5 |
|
Truncal obesity |
OMIM:300882 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Obesity |
ORPHA:464288 |
Megalencephaly |
|
Truncal obesity |
ORPHA:2477 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight |
ORPHA:589905 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Small for gestational age, Truncal obesity, Increased body mass index |
OMIM:300957 |
48,Xxxy Syndrome |
|
Abnormal dental enamel morphology, Tall stature, Obesity, Type II diabetes mellitus, Inguinal hernia |
ORPHA:96263 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Failure to thrive, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipo... |
OMIM:609069 |
Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hype... |
ORPHA:3008 |
Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
Congenital Myopathy 9A |
|
Obesity |
OMIM:618822 |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Obesity |
OMIM:601794 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Obesity |
OMIM:619056 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Tall stature, Obesity |
OMIM:618430 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:363741 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Narcolepsy 7 |
|
Obesity, Type II diabetes mellitus |
OMIM:614250 |
Chromosome 2Q37 Deletion Syndrome |
|
Obesity |
OMIM:600430 |
Tatton-Brown-Rahman Syndrome |
|
Proportionate tall stature, Obesity, Umbilical hernia |
ORPHA:404443 |
Bardet-Biedl Syndrome 1 |
|
Insulin resistance, Hepatic fibrosis, Obesity, Biliary tract abnormality, Left ventricular hypert... |
OMIM:209900 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Obesity |
OMIM:618443 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Abnormal circulating lipid concentration, Inguinal hernia, Truncal obesity, D... |
OMIM:616541 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Camptodactyly, Disproportionate tall stature, Abdominal obesity |
OMIM:301039 |
Silver-Russell Syndrome |
|
Insulin resistance, Recurrent hypoglycemia, Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
Carpenter Syndrome 1 |
|
Joint contracture of the hand, Polysplenia, Umbilical hernia, Obesity, Omphalocele, Camptodactyly |
OMIM:201000 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Hypoglycemia, Umbilical hernia, Obesity, Hepatosplenomegaly, Cholecystitis, Hepat... |
OMIM:301066 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Overgrowth, Obesity |
OMIM:620250 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Failure to thr... |
OMIM:309000 |
Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Failure to thrive, Hyperaldosteronism, Hyperinsul... |
ORPHA:508 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Overgrowth, Failure to thrive in infancy, Obesity |
OMIM:620155 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Umbilical hernia, Large for gestational age, Overgrowth, Omphalocele, Small for gestational age |
ORPHA:254534 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity |
OMIM:300354 |
Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Obesity |
ORPHA:439822 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Obesity |
ORPHA:163681 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase, Postprandial hyperglycemia |
ORPHA:681 |
2Q37 Microdeletion Syndrome |
|
Obesity, Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:1001 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Obesity, Congenital diaphragmatic hernia, Failure to thrive |
ORPHA:261197 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Obesity, Decreased body weight |
ORPHA:589821 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Femoral hernia, Obesity, Inguinal hernia, Failure to thrive |
ORPHA:96147 |
White-Sutton Syndrome |
|
Hypoglycemic seizures, Obesity, Congenital diaphragmatic hernia, Failure to thrive |
OMIM:616364 |
Momo Syndrome |
|
Tall stature, Obesity, Large for gestational age, Overgrowth |
ORPHA:2563 |
Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Abnormal pancreas morphology, Umbilical hernia, Exocrine pancreatic insufficiency,... |
ORPHA:116 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Elevated circulating ala... |
OMIM:619534 |
Radio-Tartaglia Syndrome |
|
Obesity |
OMIM:619312 |
Luscan-Lumish Syndrome |
|
Overgrowth, Obesity |
OMIM:616831 |
X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Obesity, Inguinal hernia, Camptodactyly of finger |
ORPHA:85293 |
Oculocerebrorenal Syndrome Of Lowe |
|
Atypical scarring of skin, Failure to thrive, Umbilical hernia, Abnormal dental enamel morphology... |
ORPHA:534 |
Perrault Syndrome 4 |
|
Obesity, Disproportionate tall stature |
OMIM:615300 |
Man1B1-Cdg |
|
Truncal obesity |
ORPHA:397941 |
Achondroplasia |
|
Obesity, Hypoxemia |
ORPHA:15 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Postprandial hyperglycemia, Hypomagnesemia, Obesity, Weight loss, Transient... |
ORPHA:79102 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Obesity, Hypoglycemia |
ORPHA:91355 |
Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Truncal obesity |
ORPHA:127 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss, Congenital diaphragmatic hernia |
ORPHA:251071 |
Desbuquois Dysplasia 1 |
|
Obesity |
OMIM:251450 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Obesity |
ORPHA:174 |
Den Hoed-De Boer-Voisin Syndrome |
|
Obesity, Decreased body weight, Amelogenesis imperfecta, Enamel hypoplasia, Overweight |
OMIM:619229 |
Cushing Disease |
|
Increased circulating cortisol level, Dorsocervical fat pad, Increased body weight, Truncal obesi... |
ORPHA:96253 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Elbow flexion contracture, Obesity, Hip contracture |
OMIM:618493 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreatic hypoplasia, Glycosuri... |
ORPHA:99885 |
Peripartum Cardiomyopathy |
|
Obesity, Diabetes mellitus, Left ventricular hypertrophy |
ORPHA:563 |
Lysinuric Protein Intolerance |
|
Failure to thrive, Increased circulating ferritin concentration, Hyperammonemia, Splenomegaly, Pa... |
OMIM:222700 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatic failure, Micronodular cirrhosis, Ascites, Splenomegaly, Truncal obesity, Hepatomegaly, Li... |
OMIM:301072 |
Xylt1-Cdg |
|
Hepatomegaly, Truncal obesity |
ORPHA:370930 |
Momo Syndrome |
|
Overgrowth, Obesity |
OMIM:157980 |
Septo-Optic Dysplasia Spectrum |
|
Obesity, Maternal diabetes |
ORPHA:3157 |
Ring Chromosome Y Syndrome |
|
Obesity |
ORPHA:261529 |
Cole Disease |
|
Abnormal blood phosphate concentration, Hyperglycemia |
OMIM:615522 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Obesity, Type II diabetes mellitus, Failure to thrive, Abdominal obesity |
ORPHA:398079 |
Fliedner-Zweier Syndrome |
|
Obesity |
OMIM:620511 |
Bardet-Biedl Syndrome 17 |
|
Obesity |
OMIM:615994 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... |
OMIM:124000 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Obesity |
OMIM:194072 |
Angelman Syndrome Due To A Point Mutation |
|
Obesity |
ORPHA:411511 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hyperglycemia, Obesity, Hyperlipidemia, ... |
ORPHA:293987 |
Adiposis Dolorosa |
|
Obesity |
ORPHA:36397 |
Sotos Syndrome |
|
Tall stature, Glucose intolerance, Increased body weight, Overgrowth, Prolonged neonatal jaundice... |
OMIM:117550 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Obesity |
OMIM:619680 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... |
ORPHA:769 |
Retinitis Pigmentosa |
|
Obesity, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:791 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Decreased liver function, Hyperglycemia, Hyperglycinemia, Cyanosis, Hypernatremia |
OMIM:620423 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Obesity, Hypercalcemia, Hypertriglyceridemia |
ORPHA:369837 |
Webb-Dattani Syndrome |
|
Obesity, Hypernatremia |
OMIM:615926 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
Müllerian Aplasia And Hyperandrogenism |
|
Obesity |
ORPHA:247768 |
Kleefstra Syndrome |
|
Hernia, Obesity |
ORPHA:261494 |
White-Sutton Syndrome |
|
Ventral hernia, Obesity, Inguinal hernia, Congenital diaphragmatic hernia |
ORPHA:468678 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Overweight |
ORPHA:99832 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity |
ORPHA:3224 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Obesity |
ORPHA:251038 |
Distal Deletion 12Q |
|
Congenital hypertrophy of left ventricle, Annular pancreas, Maturity-onset diabetes of the young,... |
ORPHA:96149 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Atypical Werner Syndrome |
|
Chondrocalcinosis, Failure to thrive, Insulin-resistant diabetes mellitus, Fasting hyperinsulinem... |
ORPHA:79474 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Obesity |
OMIM:617296 |
Angelman Syndrome |
|
Obesity |
OMIM:105830 |
Steinert Myotonic Dystrophy |
|
Insulin resistance, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hype... |
ORPHA:273 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Obesity |
ORPHA:98794 |
Pseudohypoparathyroidism Type 1C |
|
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia, Calcinosis, Hyp... |
ORPHA:79444 |
Kleefstra Syndrome 1 |
|
Obesity |
OMIM:610253 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Dentinogenesis imperfecta, Obesity, Type I diabetes mellitus |
OMIM:619269 |
Bardet-Biedl Syndrome |
|
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, De... |
ORPHA:110 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Obesity, Inguinal hernia, Umbilical hernia |
OMIM:620654 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Increased body weight, Abdominal obesity, Flexion c... |
ORPHA:398069 |
Cohen Syndrome |
|
Childhood-onset truncal obesity, Small for gestational age |
OMIM:216550 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Obesity, Diabetes mellitus, Small for gestational age, Failure to thrive |
ORPHA:98754 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
Down Syndrome |
|
Obesity, Type II diabetes mellitus, Umbilical hernia |
ORPHA:870 |
Chops Syndrome |
|
Obesity, Splenomegaly |
OMIM:616368 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Obesity, Diabetes mellitus, Small for gestational age, Failure to thrive |
ORPHA:98793 |
Ulnar-Mammary Syndrome |
|
Hernia of the abdominal wall, Obesity, Camptodactyly of finger |
ORPHA:3138 |
Bardet-Biedl Syndrome 12 |
|
Abdominal mass, Obesity |
OMIM:615989 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Obesity, Diabetes mellitus, Small for gestational age, Failure to thrive |
ORPHA:177904 |
Bloom Syndrome |
|
Insulin resistance, Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestatio... |
ORPHA:125 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Obesity, Diabetes mellitus, Small for gestational age, Failure to thrive |
ORPHA:177901 |
Perlman Syndrome |
|
Visceromegaly, Hypoglycemia, Ascites, Large for gestational age, Congenital diaphragmatic hernia,... |
OMIM:267000 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Obesity |
ORPHA:2235 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity, Inguinal hernia |
OMIM:614947 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Elevated circulating C-reactive protein concentration, Obesity, Increased HDL cholesterol concent... |
ORPHA:70591 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Failure to thrive, Pancreatic hypoplasia, Umbilical hernia, Glycosuria, Hyperglycemia, Absent gal... |
OMIM:600001 |
Angelman Syndrome |
|
Obesity |
ORPHA:72 |
Cohen Syndrome |
|
Failure to thrive in infancy, Obesity |
ORPHA:193 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Jaundice, Obesity, Elevated circulating hepatic transaminase concentration, Diabetes mellitus |
OMIM:614231 |
Wagro Syndrome |
|
Obesity |
OMIM:612469 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Azotemia, Hepatic steatosis, Abdominal obesity |
OMIM:619321 |
Pseudohypoparathyroidism Type 1A |
|
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia, Calcinosis, Hyp... |
ORPHA:79443 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Type II diabetes mellitus, Enamel hypoplasia, Truncal obesity |
OMIM:210720 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Obesity, Overweight |
ORPHA:2822 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Dend Syndrome |
|
Elevated hemoglobin A1c, Hyperglycemia |
ORPHA:79134 |
7Q11.23 Microduplication Syndrome |
|
Obesity, Inguinal hernia, Congenital diaphragmatic hernia |
ORPHA:96121 |
Diamond-Blackfan Anemia 21 |
|
Obesity |
OMIM:620072 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity |
ORPHA:319675 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased circulating cortisol level, Pancreatic adenocarcinoma, Dorsocervical fat pad, Increased... |
ORPHA:99889 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... |
ORPHA:99413 |
Turner Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... |
ORPHA:881 |
Mosaic Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... |
ORPHA:99228 |
Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... |
ORPHA:99226 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated circulating hepatic transaminase concentration, Abnormal abdomen morphology, Failure to ... |
OMIM:619475 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Obesity, Inguinal hernia |
OMIM:618653 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis |
ORPHA:391665 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Failure to thrive, Umbilical hernia, Abnormal dental enamel morphology, Obesity, ... |
ORPHA:567 |
Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
Kallmann Syndrome |
|
Obesity |
ORPHA:478 |
Craniopharyngioma |
|
Obesity, Type II diabetes mellitus |
ORPHA:54595 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Inguinal hernia, Microvesicular h... |
OMIM:220111 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity |
OMIM:250420 |
Desbuquois Dysplasia 2 |
|
Truncal obesity |
OMIM:615777 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Obesity, Truncal obesity |
ORPHA:466950 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Obesity, Mildly elevated creatine ... |
ORPHA:66529 |
Prader-Willi Syndrome Due To Translocation |
|
Obesity |
ORPHA:177907 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Obesity |
OMIM:616078 |
Kabuki Syndrome |
|
Obesity, Congenital diaphragmatic hernia, Failure to thrive |
ORPHA:2322 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Failure to thrive, Abdominal obesity |
ORPHA:739 |
Helsmoortel-Van Der Aa Syndrome |
|
Obesity, Failure to thrive, Truncal obesity, Enlarged kidney |
OMIM:615873 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Truncal obesity |
ORPHA:2637 |
Meningioma |
|
Decreased circulating cortisol level, Obesity |
ORPHA:2495 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Obesity, Failure to thrive |
ORPHA:369950 |
Digeorge Syndrome |
|
Cholelithiasis, Umbilical hernia, Obesity, Hypocalcemia, Inguinal hernia, Hepatic steatosis, Sple... |
OMIM:188400 |
1P36 Deletion Syndrome |
|
Annular pancreas, Failure to thrive, Camptodactyly of finger, Abnormality of the spleen, Obesity,... |
ORPHA:1606 |
Adnp Syndrome |
|
Inguinal hernia, Truncal obesity, Umbilical hernia |
ORPHA:404448 |
Myhre Syndrome |
|
Camptodactyly, Obesity, Small for gestational age |
OMIM:139210 |
Alström Syndrome |
|
Insulin resistance, Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase ... |
ORPHA:64 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Obesity |
ORPHA:466943 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hyperglycemia, Obesity |
ORPHA:444077 |
Carney Complex |
|
Increased circulating cortisol level, Tall stature, Dorsocervical fat pad, Increased body weight,... |
ORPHA:1359 |
Scorpion Envenomation |
|
Glycosuria, Elevated circulating aspartate aminotransferase concentration, Hyperglycemia, Hypokal... |
ORPHA:466677 |
Williams Syndrome |
|
Cholelithiasis, Abnormal circulating lipid concentration, Umbilical hernia, Abnormal dental ename... |
ORPHA:904 |
White-Kernohan Syndrome |
|
Obesity |
OMIM:619426 |
Williams-Beuren Syndrome |
|
Umbilical hernia, Failure to thrive in infancy, Obesity, Glucose intolerance, Portal hypertension... |
OMIM:194050 |
Xq21 Microdeletion Syndrome |
|
Obesity |
ORPHA:1435 |
Monosomy 22Q13.3 |
|
Obesity, Umbilical hernia |
ORPHA:48652 |
1P21.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:293948 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Keloids, Failure to thrive, Enamel hypoplasia, Truncal obesity, Hepatic hemangi... |
OMIM:180849 |
Hellp Syndrome |
|
Increased body weight, Elevated circulating hepatic transaminase concentration |
ORPHA:244242 |
6Q Terminal Deletion Syndrome |
|
Obesity, Failure to thrive |
ORPHA:75857 |
17Q24.2 Microdeletion Syndrome |
|
Failure to thrive in infancy, Truncal obesity |
ORPHA:529962 |
Witteveen-Kolk Syndrome |
|
Obesity, Type II diabetes mellitus, Inguinal hernia, Congenital diaphragmatic hernia, Contracture... |
OMIM:613406 |
Carpenter Syndrome 2 |
|
Camptodactyly, Obesity, Knee flexion contracture, Umbilical hernia |
OMIM:614976 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Obesity, Keloids, Failure to thrive |
ORPHA:353281 |
Ulnar-Mammary Syndrome |
|
Elbow flexion contracture, Obesity, Inguinal hernia |
OMIM:181450 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Obesity |
ORPHA:1772 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Obesity, Failure to thrive |
OMIM:617157 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Corneal scarring, Keloids, Obesity, Failure to thrive |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Corneal scarring, Keloids, Obesity, Failure to thrive |
ORPHA:353277 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly, Obesity, Camptodactyly of finger |
OMIM:607872 |
Primrose Syndrome |
|
Glucose intolerance, Knee flexion contracture, Hip contracture, Truncal obesity, Flexion contract... |
OMIM:259050 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Camptodactyly, Failure to thrive, Truncal obesity |
OMIM:612474 |
Cornelia De Lange Syndrome |
|
Failure to thrive, Congenital diaphragmatic hernia, Truncal obesity |
ORPHA:199 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Obesity |
OMIM:309580 |
Pallister-Killian Syndrome |
|
Camptodactyly of 2nd-5th fingers, Umbilical hernia, Obesity, Inguinal hernia, Congenital diaphrag... |
OMIM:601803 |