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Gene: Ces1g MGI:88378

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

carboxylesterase 1G

Synonyms:

Ses-1, Ces1, Ces-1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ces1g mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Ces1g (1 diseases)
Human diseases predicted to be associated with Ces1g (759 diseases)

The table below shows human diseases associated to Ces1g by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Drug Metabolism, Altered, Ces1-Related			OMIM:618057

The table below shows human diseases predicted to be associated to Ces1g by phenotypic similarity.

Disease	Matching phenotypes	Source
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II di...	ORPHA:71529
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ...	OMIM:612526
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy...	ORPHA:329249
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide...	OMIM:615980
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci...	OMIM:610717
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta...	ORPHA:324575
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ...	OMIM:613877
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i...	ORPHA:363400
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating enzyme concentration or activity, Elevated circulating thyroid-stimulating h...	ORPHA:171706
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Precocious puberty in females, Diabetes mellit...	ORPHA:528
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu...	ORPHA:276575
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glyc...	ORPHA:369
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Lipase Deficiency, Combined	Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis	OMIM:246650
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic...	ORPHA:436182
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos...	OMIM:610947
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypogly...	ORPHA:276580
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Multiple Symmetric Lipomatosis	Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology, Hepatomegaly	ORPHA:2398
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert...	OMIM:615381
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased ...	ORPHA:276556
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr...	OMIM:619855
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71526
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu...	OMIM:301033
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Aggressive behavior, Overfriendliness	OMIM:618010
Galactokinase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Small for gestational age, H...	ORPHA:79237
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos...	OMIM:608709
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia	OMIM:615924
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight...	OMIM:616222
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:26793
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati...	OMIM:620357
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi...	OMIM:278000
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di...	ORPHA:79083
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Li...	ORPHA:2348
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp...	ORPHA:75234
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young	ORPHA:254531
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa...	OMIM:607616
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea...	OMIM:619048
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp...	ORPHA:2089
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe...	ORPHA:69663
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat...	ORPHA:79084
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia...	ORPHA:79086
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul...	OMIM:613327
Hyperinsulinemic Hypoglycemia, Familial, 1	Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo...	OMIM:256450
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h...	ORPHA:26792
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Fanconi-Bickel Syndrome	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransf...	ORPHA:2088
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu...	OMIM:619386
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati...	OMIM:617872
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
D-Glyceric Aciduria	Abnormal circulating enzyme concentration or activity, Hyperglycinemia, Nonketotic hyperglycinemi...	ORPHA:941
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem...	ORPHA:79644
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Laron Syndrome	Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest...	ORPHA:633
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Self hugging, Increased bo...	OMIM:182290
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri...	OMIM:608594
Familial Multiple Lipomatosis	Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Overgrowth	ORPHA:199276
Acquired Partial Lipodystrophy	Hepatic steatosis, Insulin resistance, Lipoatrophy	ORPHA:79087
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri...	OMIM:269700
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity...	ORPHA:77296
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Obesity And Hypopigmentation	Polyphagia, Hyperinsulinemia, Obesity, Overgrowth, Hepatic steatosis	OMIM:620195
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypoalbu...	OMIM:619013
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Type 2 Diabetes Mellitus	Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio	OMIM:125853
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level	OMIM:610768
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:300635
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion...	ORPHA:189427
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	ORPHA:280365
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, He...	OMIM:248370
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act...	OMIM:203800
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	ORPHA:42
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity, Maturity-onset diabetes of the young	OMIM:613375
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa...	ORPHA:263501
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci...	OMIM:617253
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi...	OMIM:608612
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru...	ORPHA:96184
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A...	ORPHA:209902
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased lecithin cholesterol acy...	OMIM:245900
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h...	ORPHA:35878
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Mpi-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hypoalb...	ORPHA:79319
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas...	ORPHA:369873
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Cyanosis, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotr...	OMIM:261680
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Jaundice, Hepatosple...	ORPHA:444490
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure	ORPHA:156
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly	OMIM:613101
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc...	ORPHA:158057
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:212140
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98855
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc...	ORPHA:98908
Chylomicron Retention Disease	Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Steatorrhea, Increased he...	ORPHA:71
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Microtriplication 11Q24.1	Hyperlipidemia, Obesity, Bruxism	ORPHA:289522
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperin...	OMIM:602579
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypo...	ORPHA:73272
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn...	ORPHA:101330
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly...	OMIM:617093
Platelet-Activating Factor Acetylhydrolase Deficiency	Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor	OMIM:614278
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98863
Methanol Poisoning	Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus	ORPHA:31825
Perlman Syndrome	Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia, Ta...	ORPHA:2849
Aromatase Deficiency	Eunuchoid habitus, Hypergonadotropic hypogonadism, Hyperlipidemia, Insulin resistance, Obesity, T...	ORPHA:91
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98853
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Abnormal circulat...	ORPHA:3191
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia, Type II diabetes mellitus	ORPHA:401923
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Hypertriglyceridemia	OMIM:620282
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Goiter, Pituitary hypothyroidism...	ORPHA:90674
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit...	ORPHA:98907
19P13.12 Microdeletion Syndrome	Hepatic steatosis, Hyperactivity, Precocious puberty, Hyperlipidemia, Obesity, Self-injurious beh...	ORPHA:254346
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F...	OMIM:617591
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentr...	OMIM:277700
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Adrenal insufficiency, Hypoalbuminemia, Hypogonadism, Hypothy...	OMIM:617575
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus	ORPHA:791
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hypertriglyceridemia, Hepatic failure	OMIM:177000
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein...	OMIM:251880
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis	OMIM:618398
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated circulati...	ORPHA:99901
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty	ORPHA:90154
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Abnormal repetitive manne...	ORPHA:819
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,...	OMIM:619418
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Hyperinsulinemia, Obesity, Tall stature	OMIM:618406
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc...	ORPHA:90041
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Patent Ductus Venosus	Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function	OMIM:601466
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni...	OMIM:619489
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancrea...	OMIM:246200
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay...	OMIM:616033
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228308
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Obesity, Aggressive behavior	OMIM:620270
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul...	OMIM:603553
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Nephrotic Syndrome, Type 1	Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Mehmo Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A...	OMIM:300148
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li...	ORPHA:567548
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Increased total bil...	ORPHA:890
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Xanth...	OMIM:232200
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co...	ORPHA:94086
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Prader-Willi syndrome (Type 1)	Truncal obesity, Hypogonadism	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity, Hypogonadism	DECIPHER:53
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:540
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hepatosp...	ORPHA:275761
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypertriglyceridemia, Hypogl...	ORPHA:79259
Bardet-Biedl Syndrome 11	Hypogonadism, Obesity	OMIM:615988
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I...	ORPHA:3111
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Griscelli Syndrome Type 2	Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice	ORPHA:79477
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Immunodeficiency 47	Elevated hepatic transaminase, Hepatomegaly, Accessory spleen, Decreased circulating copper conce...	OMIM:300972
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:212138
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Insulin resistance, Flexion contracture, Elbow flex...	OMIM:214150
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ...	OMIM:608836
Monosomy 13Q34	Insulin resistance, Hepatic steatosis, Hypercalcemia, Obesity	ORPHA:96168
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypera...	OMIM:201475
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Decreased serum insu...	ORPHA:77293
Ddost-Cdg	Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ...	ORPHA:300536
Narcolepsy Type 1	Obesity	ORPHA:2073
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Congenital hypothyroidism	ORPHA:88643
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ...	OMIM:264470
H Syndrome	Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Hepatosplenomegaly, Hypogonadism, Hernia,...	ORPHA:168569
Simpson-Golabi-Behmel Syndrome, Type 2	Inguinal hernia, Obesity	OMIM:300209
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, H...	ORPHA:470
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci...	ORPHA:769
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Addictive alcohol use, Hypercholesterolemia, Hyperglycemia, Hypothyroidism	ORPHA:90065
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev...	OMIM:615486
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi...	ORPHA:293987
Syndromic X-Linked Intellectual Disability 7	Hypogonadism, Obesity	ORPHA:85274
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia, Flexion contracture	ORPHA:90153
Bardet-Biedl Syndrome 5	Hypogonadism, Obesity	OMIM:615983
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hernia of the abdominal wall, Obesity	ORPHA:3055
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl...	OMIM:614921
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp...	OMIM:232220
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity	OMIM:309585
Mehmo Syndrome	Diabetes mellitus, Agitation, Obesity	ORPHA:85282
Laurence-Moon Syndrome	Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity	ORPHA:2377
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Dorsocervical fat pad, Adrenal hyperplasia, Increased body weight, Increased c...	OMIM:615830
Bardet-Biedl Syndrome 10	Hypogonadism, Obesity	OMIM:615987
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, E...	OMIM:618329
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Placental Insufficiency	Hypoxemia, Insulin resistance, Small for gestational age	ORPHA:439167
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central ...	ORPHA:508
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome...	ORPHA:905
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism, H...	OMIM:212065
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Elevated ...	ORPHA:565612
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Flexion contracture of fi...	OMIM:256040
Combined Oxidative Phosphorylation Deficiency 21	Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Intellectual Developmental Disorder, X-Linked 91	Obesity	OMIM:300577
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance...	OMIM:615630
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Whipple Disease	Hyponatremia, Hepatomegaly, Cachexia, Anorexia, Splenomegaly, Insulin resistance, Polydipsia, Hyp...	ORPHA:3452
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia, Hypoplasi...	OMIM:619313
Short Syndrome	Inguinal hernia, Lipoatrophy, Small for gestational age, Lipodystrophy, Insulin resistance, Absen...	OMIM:269880
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre...	OMIM:261750
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Abnormal circulating lip...	OMIM:616541
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic...	OMIM:617156
Macrocephaly-Intellectual Disability-Autism Syndrome	Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attention deficit hyperactivit...	ORPHA:210548
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl...	OMIM:307030
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Hepatosplenomeg...	OMIM:619802
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Decreased liver function, Dysphagia, Failu...	ORPHA:70472
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur...	ORPHA:69076
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi...	OMIM:619127
11P15.4 Microduplication Syndrome	Obesity, Aggressive behavior	ORPHA:300305
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Rhizomelic Chondrodysplasia Punctata, Type 2	Decreased circulating plasmalogen concentration, Failure to thrive, Flexion contracture, Inguinal...	OMIM:222765
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Hyperhomocystinemia, Disproportionate tall stature, Hypermethioninemia, Failure ...	OMIM:236200
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferas...	OMIM:256810
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cac...	ORPHA:298
Bardet-Biedl Syndrome 19	Hypogonadism, Hepatic steatosis, Obesity	OMIM:615996
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Obesity, Male hypogonadism, Hypercholesterolemia, Pancreatitis	OMIM:619471
11Q22.2Q22.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors	ORPHA:444002
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Xp21 Deletion Syndrome	Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent...	ORPHA:261476
Sitosterolemia 1	Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concentration, Elevated ...	OMIM:210250
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor...	ORPHA:363618
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru...	ORPHA:541423
Nephronophthisis 15	Elevated hepatic transaminase, Obesity	OMIM:614845
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati...	OMIM:277900
48,Xxyy Syndrome	Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Obesity, Type...	ORPHA:10
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture...	OMIM:616263
Atypical Werner Syndrome	Hypertriglyceridemia, Lipoatrophy, Diabetes mellitus, Abnormal circulating leptin concentration, ...	ORPHA:79474
Aapoaiv Amyloidosis	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration	ORPHA:439232
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:158048
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Diabetes mellitus, Decreased serum iron, Overweight, Repetitive compulsive behavior, Flexion cont...	ORPHA:391372
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Small for g...	ORPHA:2959
Pigmented Nodular Adrenocortical Disease, Primary, 2	Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula...	OMIM:610475
Bardet-Biedl Syndrome 16	Hypogonadism, Obesity	OMIM:615993
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Short Syndrome	Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res...	ORPHA:3163
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami...	OMIM:619573
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
Hernández-Aguirre Negrete Syndrome	Obesity, Delayed puberty	ORPHA:2139
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t...	ORPHA:2126
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid...	OMIM:619487
Potocki-Lupski Syndrome	Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal repetitive manneris...	OMIM:610883
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Failure to thrive, Hepati...	ORPHA:14
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat...	OMIM:274300
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating alkaline phosphatase concentration, Hepatic steatosis, Elevated circulating ...	ORPHA:52430
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Obesity	OMIM:616756
Estrogen Resistance Syndrome	Elevated tissue non-specific alkaline phosphatase, Increased circulating gonadotropin level, Abse...	ORPHA:785
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Diabetes mellitus, ...	ORPHA:536532
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Lipoma, Obesity, Oral-pharyngeal dysphagia	ORPHA:480907
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st...	OMIM:615438
Gitelman Syndrome	Neoplasm of the pancreas, Salt craving, Maternal diabetes, Insulin resistance, Delayed puberty, H...	ORPHA:358
Neuhauser Syndrome	Hypercholesterolemia, Primary hypothyroidism, Dysphagia	OMIM:249310
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio...	OMIM:231680
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Bardet-Biedl Syndrome 2	Diabetes mellitus, Hypogonadism, Obesity	OMIM:615981
Chung-Jansen Syndrome	Attention deficit hyperactivity disorder, Obesity, Impulsivity, Aggressive behavior	OMIM:617991
Werner Syndrome	Lipoatrophy, Lipodystrophy, Insulin resistance, Thyroid carcinoma, Hypogonadism, Type II diabetes...	ORPHA:902
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia, Abnormal repetitive mannerisms, Hypothyroidism	ORPHA:2479
Xq27.3Q28 Duplication Syndrome	Truncal obesity, Failure to thrive, Hypogonadism	ORPHA:261483
Morm Syndrome	Truncal obesity, Hyperactivity, Aggressive behavior	ORPHA:75858
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hep...	OMIM:232240
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par...	OMIM:610489
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Diffuse hepatic stea...	ORPHA:746
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
Schimke Immuno-Osseous Dysplasia	Small for gestational age, Abnormality of thyroid physiology, Hyperlipidemia, Failure to thrive, ...	ORPHA:1830
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Hepatic steatosis, Inguinal hernia, Small for gestational age, Hyp...	OMIM:613658
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d...	OMIM:231530
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Hyperalaninemia, Achilles tendon contracture, Elevated circulating creatine kinase concentration,...	OMIM:615418
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Hy...	ORPHA:699
Alagille Syndrome 1	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Hepatic failure, C...	OMIM:118450
Borjeson-Forssman-Lehmann Syndrome	Obesity, Delayed puberty	OMIM:301900
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Obesity, Pseudohypoparathyroidism...	OMIM:612462
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi...	ORPHA:3464
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large...	OMIM:616026
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:618183
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren...	ORPHA:813
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism, Obesity	OMIM:619737
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Anorexi...	ORPHA:20
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Repetitive compulsive behavior, ...	ORPHA:66634
14Q11.2 Microduplication Syndrome	Aggressive behavior, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Polyphagia	ORPHA:261229
Bardet-Biedl Syndrome 21	Overweight, Obesity, Elevated hepatic transaminase	OMIM:617406
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration...	ORPHA:230
Bardet-Biedl Syndrome 1	Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,...	OMIM:209900
Summitt Syndrome	Obesity	OMIM:272350
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:603233
Bardet-Biedl Syndrome 9	Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia	OMIM:615986
Leptin Deficiency Or Dysfunction	Polyphagia, Hypogonadism, Obesity, Decreased serum leptin	OMIM:614962
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia	OMIM:201450
Clark-Baraitser Syndrome	Hyperactivity, Obesity, Aggressive behavior	OMIM:617752
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Skin-picki...	OMIM:615547
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Diabetes mellitus, Obesity, Congenital hypothyroidism	OMIM:614613
Rafiq Syndrome	Truncal obesity, Flexion contracture, Obesity, Aggressive behavior	OMIM:614202
Bardet-Biedl Syndrome 22	Polyphagia, Hypogonadism, Obesity, Large for gestational age	OMIM:617119
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula...	OMIM:219080
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Attention deficit hyperactivity disorder	OMIM:618725
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulating enzyme ...	ORPHA:17
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Low alkaline phospha...	ORPHA:369837
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Glycosuria, ...	OMIM:229600
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c...	ORPHA:91355
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Lowe Oculocerebrorenal Syndrome	Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c...	OMIM:309000
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Chédiak-Higashi Syndrome	Hyponatremia, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:167
Distal 16P11.2 Microdeletion Syndrome	Hyperuricemia, Attention deficit hyperactivity disorder, Obesity	ORPHA:261222
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid...	ORPHA:79445
Bardet-Biedl Syndrome 7	Hypogonadism, Obesity	OMIM:615984
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Obesity, Increased circulating ACTH level, Glucose...	OMIM:219090
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Hypothyroidism, Obesity, Self-injurious behavior, Skin-pickin...	OMIM:600430
Pseudohypoparathyroidism, Type Ia	Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:103580
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo...	ORPHA:273
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Polyphagia, Hyperactivity, Inappropriate laughter, Obesity	ORPHA:411515
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal...	OMIM:261515
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell...	ORPHA:2234
Immunodeficiency 61	Obesity, Attention deficit hyperactivity disorder	OMIM:300310
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,...	ORPHA:300373
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Elevated alkaline phosphatas...	OMIM:615363
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper...	OMIM:618363
Bardet-Biedl Syndrome 4	Hypogonadism, Obesity	OMIM:615982
Prader-Willi Syndrome	Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Hypogonadotr...	OMIM:176270
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu...	OMIM:270450
Trisomy 5P	Obesity	ORPHA:1742
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Goiter, Elevated circulating thyroid-sti...	ORPHA:99832
Summitt Syndrome	Camptodactyly of finger, Obesity, Tall stature	ORPHA:3210
Intellectual Developmental Disorder, Autosomal Dominant 39	Self-mutilation, Polyphagia, Obesity, Aggressive behavior	OMIM:616521
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia	OMIM:616672
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of...	ORPHA:93111
Liver Disease, Severe Congenital	Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He...	OMIM:619991
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity	ORPHA:3077
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Obesity, Congenital hypothyroidism	ORPHA:352530
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development	OMIM:610628
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ...	OMIM:614450
3-Methylglutaconic Aciduria, Type V	Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating aspartate aminotransfer...	OMIM:610198
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Hypogonadotropic hypogonadism, Obesity	ORPHA:177910
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty	ORPHA:141333
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Abnormal temper ta...	ORPHA:163681
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hyperactivity, Obesity	ORPHA:397973
Bachmann-Bupp Syndrome	Hypoglycemia, Aggressive behavior, Large for gestational age, Attention deficit hyperactivity dis...	OMIM:619075
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Small for gestational age, D...	ORPHA:404454
Intellectual Developmental Disorder, Autosomal Recessive 13	Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism	OMIM:613192
Tangier Disease	Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Childhood-onset truncal obesity	OMIM:610156
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic...	OMIM:619377
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Hyperactivity, Obesity, Tall stature	OMIM:618089
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Premature a...	ORPHA:98793
48,Xxxy Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Obesity, Hypogonadism, Type II diabetes melli...	ORPHA:96263
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Premature a...	ORPHA:177904
6Q16 Microdeletion Syndrome	Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia	OMIM:611126
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Premature a...	ORPHA:177901
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Inguinal hernia, Hyperparathyroidism, Hypoammonemia, Abnormal dental enamel morphol...	ORPHA:534
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Premature a...	ORPHA:98754
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms...	OMIM:618430
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Umbilical hernia, Obesity	ORPHA:171839
13Q12.3 Microdeletion Syndrome	Hyperactivity, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Self-m...	ORPHA:412035
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Flexion contracture, Obesity, Bruxism, Male hypogonadism, Wrist flexion contracture	OMIM:300055
Senior-Loken Syndrome 9	Hypogonadism, Hepatic fibrosis, Obesity, Cholestasis	OMIM:616629
Beta-Mercaptolactate Cysteine Disulfiduria	Umbilical hernia, Obesity	ORPHA:1035
Bloom Syndrome	Type II diabetes mellitus, Hepatic steatosis, Small for gestational age, Elevated hemoglobin A1c	OMIM:210900
Wilson-Turner Syndrome	Truncal obesity, Hypogonadotropic hypogonadism	ORPHA:3459
White-Sutton Syndrome	Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Hypoglycemic seizur...	OMIM:616364
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Insulin resistance	OMIM:619322
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity	ORPHA:2429
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Hypercalcemia, Obesity, Increased blood urea nitrogen, Delayed...	ORPHA:251004
Spastic Paraplegia 11, Autosomal Recessive	Obesity, Dysphagia	OMIM:604360
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Neonatal hypoglycemia	ORPHA:445038
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Redu...	ORPHA:556955
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ...	OMIM:619534
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert...	ORPHA:398079
Hydrocephalus-Obesity-Hypogonadism Syndrome	Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity	ORPHA:2183
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
15Q24 Microdeletion Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap...	ORPHA:94065
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity, Hypomagnesemia	OMIM:616418
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, Truncal obesity, Hypogonadism, Flexion contracture of digit,...	ORPHA:3041
Bloom Syndrome	Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ...	ORPHA:125
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Attention deficit hyperactivity disorder, Increased body weight, Impulsivity	ORPHA:589905
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Paradoxical increas...	ORPHA:96253
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Severe temper tantrums, Obesity, Stereotypical hand wringing	OMIM:619854
Baralle-Macken Syndrome	Obesity	OMIM:619255
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Hepatic steatosis, Hypertriglyceridemia, Lipoatrophy, Campto...	ORPHA:3455
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Flexion contracture, Hypoalbuminemia, Macrovesicular hepatic steatosis	OMIM:617303
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Bulimia, Obesity	OMIM:614651
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Hypogonadism, Obesity	ORPHA:2233
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Puberty and gonadal disorders, Obesity	ORPHA:464282
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc...	ORPHA:90301
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:96182
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Hepatic steatosis, Neonatal hypoglycemia	OMIM:616271
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Obesity, Pseudohypoparathyroidism	OMIM:612463
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Aggressive behavior, Precocious puberty, Abnormal repetitive manneris...	OMIM:301066
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity	OMIM:618124
Cortisone Reductase Deficiency 1	Precocious puberty, Obesity	OMIM:604931
Carpenter Syndrome	Umbilical hernia, Obesity, Polysplenia	ORPHA:65759
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Failure to thrive	ORPHA:436271
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99413
Turner Syndrome	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:881
Mosaic Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99226
Joubert Syndrome 37	Hepatomegaly, Obesity	OMIM:619185
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Aggressive behavior, Abdominal obesity, Hypogonadism, Delayed puberty	OMIM:300354
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Radio-Tartaglia Syndrome	Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Attention deficit hyperactivity di...	OMIM:619312
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Obesity	ORPHA:254525
Adrenomyodystrophy	Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis	ORPHA:977
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Xp22.13P22.2 Duplication Syndrome	Truncal obesity, Attention deficit hyperactivity disorder, Umbilical hernia, Congenital diaphragm...	ORPHA:284180
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin...	OMIM:619525
Magel2-Related Prader-Willi-Like Syndrome	Premature pubarche, Impulsivity, Precocious puberty, Flexion contracture, Increased body weight, ...	ORPHA:398069
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Obesity-Hypoventilation Syndrome	Cyanosis, Obesity	OMIM:257500
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Adrenocortical cytomegaly, Hypoglycemia, Congenital d...	ORPHA:116
Urban-Rogers-Meyer Syndrome	Hypogonadism, Camptodactyly of finger, Flexion contracture of toe, Obesity	ORPHA:3409
Sotos Syndrome	Tall stature, Aggressive behavior, Increased body weight, Glucose intolerance, Overgrowth, Attent...	OMIM:117550
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity	OMIM:618821
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Truncal obesity, Camptodactyly of finger	ORPHA:2928
Bardet-Biedl Syndrome 8	Hypogonadism, Obesity	OMIM:615985
Chromosome 16P13.3 Deletion Syndrome, Proximal	Failure to thrive, Obesity, Polysplenia	OMIM:610543
Cimdag Syndrome	Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis	OMIM:619273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kin...	OMIM:615356
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Obesity, Pseudohypoparathyroidism	ORPHA:464288
Bardet-Biedl Syndrome 6	Diabetes mellitus, Obesity	OMIM:605231
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79444
Cornelia De Lange Syndrome 5	Truncal obesity, Hypogonadism	OMIM:300882
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad...	OMIM:300869
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Hepatic steatosis, Restrictive behavi...	OMIM:619475
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Pica, Obesity, Aggressive behavior	OMIM:620191
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Obesity, Aggressive behavior	OMIM:619056
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Overgrowth	OMIM:605309
X-Linked Cerebral Adrenoleukodystrophy	Decreased circulating cortisol level, Very long chain fatty acid accumulation, Hyperactivity, Abn...	ORPHA:139396
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Splenomegaly, Cholestatic l...	OMIM:270400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Hepatomegaly, Large for gestational age, Birth length greater than 97th percenti...	OMIM:300868
Septo-Optic Dysplasia Spectrum	Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Polydipsia, Abnormality of the hypotha...	ORPHA:3157
Down Syndrome	Type II diabetes mellitus, Umbilical hernia, Hypothyroidism, Obesity	ORPHA:870
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Small for gestational age, Lipoatrophy...	OMIM:264090
Distal Deletion 12Q	Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the yo...	ORPHA:96149
Congenital Macroglossia	Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Wagr Syndrome	Obesity	ORPHA:893
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Obesity	OMIM:300238
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal...	OMIM:619755
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Glycosuria, In...	OMIM:220110
Clark-Baraitser syndrome	Obesity, Tall stature	OMIM:300602
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysph...	ORPHA:98794
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa...	OMIM:609152
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Obesity, Compulsive behaviors	OMIM:618443
Angelman Syndrome Due To A Point Mutation	Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent...	ORPHA:411511
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Compulsive behaviors, Attention deficit hyperactivity d...	ORPHA:1001
Tatton-Brown-Rahman Syndrome	Aggressive behavior, Obesity, Proportionate tall stature, Umbilical hernia, Neuroendocrine neoplasm	ORPHA:404443
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity	OMIM:615633
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Hyperactivity, Camptodactyly of finger, Cachexia, Aggressive behavior, Obesity, ...	ORPHA:85293
Bardet-Biedl Syndrome	Hypogonadism, Hypoplasia of the ovary, Hepatic fibrosis, Obesity	ORPHA:110
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal dental enamel morphology, Obesity	ORPHA:2180
Angelman Syndrome	Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel...	ORPHA:72
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Hepatic steatosis	OMIM:619321
Fabry Disease	Anorexia, Hyperlipidemia, Delayed puberty, Abnormal circulating lipid concentration, Diabetes ins...	ORPHA:324
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Congenital-Onset Steinert Myotonic Dystrophy	Hyperactivity, Obesity, Dysphagia, Decreased body weight	ORPHA:589821
Atkin-Flaitz Syndrome	Obesity	ORPHA:1193
Carpenter Syndrome 1	Omphalocele, Precocious puberty, Obesity, Polysplenia, Camptodactyly, Umbilical hernia, Joint con...	OMIM:201000
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Rabin-Pappas Syndrome	Hyponatremia, Overgrowth, Obesity, Failure to thrive in infancy	OMIM:620155
Pmm2-Cdg	Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypog...	ORPHA:79318
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly, Hypothyroidism, Hepatit...	OMIM:615846
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Overgrowth, Obesity, Aggressive behavior	OMIM:620250
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79443
Pde4D Haploinsufficiency Syndrome	Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity	ORPHA:439822
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Idiopathic Intracranial Hypertension	Obesity	ORPHA:238624
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Failure to th...	ORPHA:261197
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Den Hoed-De Boer-Voisin Syndrome	Overweight, Obesity, Dysphagia, Agitation, Decreased body weight, Enamel hypoplasia, Abnormal rep...	OMIM:619229
White-Sutton Syndrome	Ventral hernia, Inguinal hernia, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behav...	ORPHA:468678
Webb-Dattani Syndrome	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Adrenocorti...	OMIM:615926
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aggressive behavior, Disproportionate tall stature, Abdominal obesity, Attention deficit hyperact...	OMIM:301039
Marbach-Schaaf Neurodevelopmental Syndrome	Recurrent hand flapping, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:619680
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Splenomegaly, Intraalv...	OMIM:222700
Bardet-Biedl Syndrome 3	Obesity	OMIM:600151
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re...	ORPHA:2495
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Reduced circulating prolactin concentration	OMIM:264120
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Hypoglycemia, Microvesicular hepatic steatosis, Hyper...	OMIM:220111
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic...	OMIM:620185
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Truncal obesity	OMIM:300957
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec...	ORPHA:739
Man1B1-Cdg	Truncal obesity, Polyphagia	ORPHA:397941
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Achondroplasia	Hypoxemia, Obesity	ORPHA:15
X-Linked Intellectual Disability, Hedera Type	Obesity	ORPHA:93952
Luscan-Lumish Syndrome	Polyphagia, Overgrowth, Obesity, Aggressive behavior	OMIM:616831
Laurence-Moon Syndrome	Obesity	OMIM:245800
Peripartum Cardiomyopathy	Abnormality of thyroid physiology, Diabetes mellitus, Obesity	ORPHA:563
Joubert Syndrome 8	Hepatomegaly, Obesity, Prolonged neonatal jaundice	OMIM:612291
Digeorge Syndrome	Inguinal hernia, Femoral hernia, Cholelithiasis, Parathyroid agenesis, Decreased circulating para...	OMIM:188400
Kleefstra Syndrome	Aggressive behavior, Obesity, Self-injurious behavior, Hernia, Abnormal repetitive mannerisms, Se...	ORPHA:261494
8P23.1 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Obesity, Congenital diaphragmatic hernia, Weight loss	ORPHA:251071
X-Linked Intellectual Disability, Stevenson Type	Obesity, Tall stature	ORPHA:85325
Perrault Syndrome 4	Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t...	OMIM:615300
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
Hutchinson-Gilford Progeria Syndrome	Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou...	ORPHA:740
Shox-Related Short Stature	Obesity	ORPHA:314795
Megalencephaly	Truncal obesity	ORPHA:2477
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Chronic Thromboembolic Pulmonary Hypertension	Increased HDL cholesterol concentration, Obesity, Elevated circulating C-reactive protein concent...	ORPHA:70591
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Angelman Syndrome	Hyperactivity, Paroxysmal bursts of laughter, Obesity	OMIM:105830
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, Obesity	ORPHA:363741
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Obesity, Hypogonadism	OMIM:614231
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hypogonadism, Obesity	OMIM:601794
Bardet-Biedl Syndrome 17	Polydipsia, Hypogonadism, Obesity	OMIM:615994
Argininemia	Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Porta...	OMIM:207800
Chromosome 3Q29 Duplication Syndrome	Obesity	OMIM:611936
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosplenomegaly, Unco...	OMIM:618278
Momo Syndrome	Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Tall stature	ORPHA:2563
Kleefstra Syndrome 1	Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior	OMIM:610253
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Failure to thrive, Femoral hernia, Obesity	ORPHA:96147
X-Linked Intellectual Disability, Shashi Type	Obesity	ORPHA:85286
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Desbuquois Dysplasia 1	Obesity	OMIM:251450
Ogden Syndrome	Inguinal hernia, Maternal diabetes, Microvesicular hepatic steatosis, Jaundice, Dysphagia, Macrov...	OMIM:300855
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Self-injurious behavior, Increased body weight, Aggressive behavior	OMIM:300860
Borjeson-Forssman-Lehmann Syndrome	Camptodactyly of toe, Truncal obesity, Hypogonadism	ORPHA:127
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri...	OMIM:618160
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Flexion contracture, Knee flexion contract...	OMIM:619503
7Q11.23 Microduplication Syndrome	Inguinal hernia, Collectionism, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavi...	ORPHA:96121
Congenital Myopathy 9A	Obesity	OMIM:618822
Ring Chromosome Y Syndrome	Male hypogonadism, Streak ovary, Obesity	ORPHA:261529
Carney Complex	Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Dorsocervical fat pad, Follicula...	ORPHA:1359
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia	OMIM:612469
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Müllerian Aplasia And Hyperandrogenism	Obesity, Increased serum testosterone level	ORPHA:247768
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased response to growth hormon...	ORPHA:177907
1P36 Deletion Syndrome	Camptodactyly of finger, Abnormality of the spleen, Hypothyroidism, Abnormal repetitive mannerism...	ORPHA:1606
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contracture, ...	OMIM:301072
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Splenome...	ORPHA:567
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Elbow flexion contracture, Obesity	OMIM:618493
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperacti...	OMIM:616078
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Dentinogenesis imperfecta, Obesity, Type I diabetes mellitus	OMIM:619269
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:203700
Adiposis Dolorosa	Hypothyroidism, Obesity	ORPHA:36397
Williams-Beuren Syndrome	Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Portal hypertens...	OMIM:194050
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus	OMIM:210720
Primrose Syndrome	Hip contracture, Restlessness, Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circul...	OMIM:259050
Momo Syndrome	Overgrowth, Obesity	OMIM:157980
Cohen Syndrome	Small for gestational age, Childhood-onset truncal obesity, Decreased response to growth hormone ...	OMIM:216550
Xylt1-Cdg	Truncal obesity, Hepatomegaly	ORPHA:370930
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis, Joint contracture of the 5th finger, Attention deficit hyperactivity disorder	OMIM:619934
Williams Syndrome	Inguinal hernia, Failure to thrive in infancy, Hypercalcemia, Elevated circulating creatine kinas...	ORPHA:904
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Aggressive behavior, Obesity, Truncal obesity, Self-injurious behavior, Attention deficit hyperac...	ORPHA:466950
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri...	OMIM:615873
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Truncal obesity	ORPHA:3224
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Obesity	OMIM:617296
Cohen Syndrome	Failure to thrive in infancy, Obesity, Delayed puberty	ORPHA:193
Adnp Syndrome	Inguinal hernia, Oral-pharyngeal dysphagia, Aggressive behavior, Truncal obesity, Compulsive beha...	ORPHA:404448
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Obesity	OMIM:194072
Ulnar-Mammary Syndrome	Camptodactyly of finger, Hernia of the abdominal wall, Obesity, Delayed puberty	ORPHA:3138
3Q29 Microduplication Syndrome	Camptodactyly of toe, Obesity	ORPHA:251038
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, D...	ORPHA:478
Autosomal Recessive Spastic Paraplegia Type 11	Overweight, Obesity, Dysphagia	ORPHA:2822
Arima Syndrome	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Polydipsia, Hepatic steatosis	OMIM:243910
Chops Syndrome	Splenomegaly, Obesity	OMIM:616368
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Abnormality of the pineal gland, Aggressive behavior, Tongue thrusting, Obesity, Compulsive behav...	ORPHA:369950
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Truncal obesity, Attention deficit hyperactivity disorder	ORPHA:2637
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperactivity disorder, ...	ORPHA:466943
Tako-Tsubo Cardiomyopathy	Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration	ORPHA:66529
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Abnormal repetitive mannerisms, Obesity	OMIM:618653
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Combined Oxidative Phosphorylation Deficiency 15	Inguinal hernia, Obesity	OMIM:614947
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in...	ORPHA:353281
Diamond-Blackfan Anemia 21	Obesity	OMIM:620072
Witteveen-Kolk Syndrome	Inguinal hernia, Hyperactivity, Small for gestational age, Decreased response to growth hormone s...	OMIM:613406
Kabuki Syndrome	Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia	ORPHA:2322
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Rubinstein-Taybi Syndrome 1	Accessory spleen, Hyperactivity, Small for gestational age, Premature thelarche, Impulsivity, Fle...	OMIM:180849
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hyperglycemia, Hypothyroidism, Obesity, Decreased response to growth hormone stimulation test	ORPHA:444077
Desbuquois Dysplasia 2	Truncal obesity	OMIM:615777
White-Kernohan Syndrome	Hypothyroidism, Obesity, Attention deficit hyperactivity disorder	OMIM:619426
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation	ORPHA:293948
Monosomy 22Q13.3	Hyperactivity, Hair-pulling, Obesity, Bruxism, Umbilical hernia	ORPHA:48652
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Microcephalic Primordial Dwarfism, Dauber Type	Obesity	ORPHA:319675
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal...	ORPHA:353277
Hellp Syndrome	Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Increas...	ORPHA:244242
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Obesity	OMIM:250420
Myhre Syndrome	Small for gestational age, Obesity, Camptodactyly	OMIM:139210
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Increased circulating gonadotropin level, Obesity, Delayed puberty, Decreased serum...	ORPHA:1772
Bardet-Biedl Syndrome 12	Hypogonadism, Obesity	OMIM:615989
17Q24.2 Microdeletion Syndrome	Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b...	ORPHA:529962
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Aggressive behavior, Polyphagia, Obesity, Dysphagia, Congenital hypothyr...	OMIM:607872
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Carpenter Syndrome 2	Umbilical hernia, Obesity, Camptodactyly, Knee flexion contracture	OMIM:614976
Ulnar-Mammary Syndrome	Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contra...	OMIM:181450
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Failure to thrive, Obesity, Pseudohypoparathyroidism	OMIM:617157
6Q Terminal Deletion Syndrome	Failure to thrive, Obesity	ORPHA:75857
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Truncal obesity, Self-injurious behavior, Camptodactyly, Failure to thrive, Abnormal repetitive m...	OMIM:612474
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Truncal obesity, Attention deficit hyperactivity disorder, Delay...	ORPHA:199
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hyperactivity, Paroxysmal bursts of laughter, Hypogonadism, Obesity	OMIM:309580
Leukocyte Adhesion Deficiency	Peritonitis, Hyperinsulinemic hypoglycemia	ORPHA:2968
Pallister-Killian Syndrome	Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Obesity, Camp...	OMIM:601803
Drug Metabolism, Altered, Ces1-Related		OMIM:618057

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ces1g

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ces1g.

No publications found that use IMPC mice or data for Ces1g.

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MGI Allele	Allele Type	Produced
Ces1g^{tm42910(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ces1g^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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