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Gene: Aida MGI:1919737

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

axin interactor, dorsalization associated

Synonyms:

2610208M17Rik

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 Aida 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 Aida (0 diseases)
Human diseases predicted to be associated with Aida (641 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv...	OMIM:232700
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas	ORPHA:2398
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:604367
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ...	OMIM:612526
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia	ORPHA:329249
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
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
Lipase Deficiency, Combined	Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis	OMIM:246650
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ...	OMIM:613877
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res...	OMIM:615980
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat...	ORPHA:79084
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl...	ORPHA:324575
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Type 2 Diabetes Mellitus	Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus	OMIM:125853
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane...	OMIM:151660
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Diarrhea, Hyperinsulinemia, Vomiting, Abnormal intestine morphology, Failure to thrive	OMIM:606528
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity, Maturity-onset diabetes of the young	OMIM:613375
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci...	OMIM:610717
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Precocious puberty in females, Diabetes mellit...	ORPHA:528
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a...	ORPHA:363400
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos...	OMIM:610947
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Increased C-peptide level, Hyperinsul...	ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Increased C-peptide level, Hyperinsulinemia, Hypoglycemi...	ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ...	ORPHA:293964
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic...	ORPHA:436182
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Diarrhea, Esop...	ORPHA:75234
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert...	OMIM:615381
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture	OMIM:618856
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Ketotic hypoglycemia, H...	ORPHA:2089
Acquired Partial Lipodystrophy	Lipoatrophy, Insulin resistance, Hepatic steatosis	ORPHA:79087
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Obesity And Hypopigmentation	Overgrowth, Hyperinsulinemia, Hepatic steatosis, Obesity	OMIM:620195
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Increased C-peptide level, Hypogl...	ORPHA:276556
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious...	OMIM:616222
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di...	ORPHA:79083
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi...	OMIM:278000
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati...	OMIM:615710
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:2348
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:307500
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul...	ORPHA:79237
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia...	ORPHA:79086
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi...	OMIM:608612
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ...	OMIM:248370
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,...	OMIM:246200
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hepatic fibrosis, Decre...	ORPHA:79319
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul...	OMIM:613327
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Villous atrophy, Diarrhea, Hepatic fibrosis, Vomiting, Cirrhosis...	OMIM:602579
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as...	ORPHA:2088
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Villous atrophy, Hypogonadotropic hypogonadism, Reactive hy...	OMIM:600955
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:300635
Perlman Syndrome	Hepatomegaly, Inguinal hernia, Femoral hernia, High, narrow palate, Hyperinsulinemia, Abnormal pa...	ORPHA:2849
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Vomi...	ORPHA:264580
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Increa...	OMIM:607616
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay...	OMIM:616033
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity, Tall stature	OMIM:618406
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por...	ORPHA:369
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi...	OMIM:618858
Adenocarcinoma Of The Esophagus	Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Obesity	ORPHA:99976
Familial Multiple Lipomatosis	Lipodystrophy, Functional intestinal obstruction, Increased adipose tissue, Insulin resistance, H...	ORPHA:199276
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure	ORPHA:369873
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus	ORPHA:791
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ketotic hypoglycemia, Elevated...	ORPHA:79240
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ...	ORPHA:280365
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis...	OMIM:608594
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Reactive hy...	ORPHA:35878
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Decreased serum testosterone concentration, Hypogonadotropic hy...	ORPHA:465508
Adiposis Dolorosa	Constipation, Obesity, Painful subcutaneous lipomas	OMIM:103200
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	OMIM:603552
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, High palate	OMIM:618010
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Diabetes mellitu...	ORPHA:69663
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Prader-Willi syndrome (Type 1)	Truncal obesity, Hypogonadism	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity, Hypogonadism	DECIPHER:53
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis...	OMIM:269700
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a...	OMIM:227810
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula...	OMIM:605814
Simpson-Golabi-Behmel Syndrome, Type 2	Inguinal hernia, High palate, Obesity	OMIM:300209
Bardet-Biedl Syndrome 11	Hypogonadism, Obesity	OMIM:615988
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Decreased HDL choleste...	ORPHA:412
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Short Syndrome	Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin resistance, Absen...	OMIM:269880
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hypertriglyceridemia, Dec...	ORPHA:247585
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Diarrhea, Steatorrhea, Fat malabsorption, Vo...	ORPHA:71
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li...	ORPHA:440713
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism, Obesity	OMIM:619737
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act...	OMIM:203800
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipi...	ORPHA:1414
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Hyperlipoproteinemia, Type Id	Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia...	OMIM:615947
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Hyperlipidemia, Diarrhea, Vomiting, Hypoalbuminemia, Protein-losing enteropathy,...	OMIM:615863
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ...	OMIM:175700
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti...	OMIM:610582
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria	OMIM:618857
Mehmo Syndrome	Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, O...	OMIM:300148
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno...	OMIM:214900
Bardet-Biedl Syndrome 9	Truncal obesity, Hyperglycemia, Obesity	OMIM:615986
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Vomiting, Hyp...	OMIM:615453
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Perianal abscess, Jaundice, Hyperlip...	ORPHA:444490
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Obesity, Congenital hypothyroidism, Colitis, Hypoalbuminemia	ORPHA:88643
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Precocious puberty, Obesity, High palate, Hypercholesterolemia	ORPHA:254531
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hernia of the abdominal wall, Obesity	ORPHA:3055
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate amino...	OMIM:617253
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur...	ORPHA:69076
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Narcolepsy Type 1	Obesity	ORPHA:2073
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Bardet-Biedl Syndrome 10	Hypogonadism, Obesity	OMIM:615987
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F...	OMIM:617591
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Peritonitis, Diarrhea, Bloody diarrhea, Vomiting, Abnorm...	ORPHA:391673
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Bardet-Biedl Syndrome 5	Hypogonadism, Obesity	OMIM:615983
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hepatosplenomegaly, Hypoa...	OMIM:619013
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Syndromic X-Linked Intellectual Disability 7	Hypogonadism, Obesity	ORPHA:85274
Intellectual Developmental Disorder, X-Linked 91	High palate, Obesity	OMIM:300577
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Pyloric sten...	ORPHA:96184
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Rectal p...	ORPHA:508
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc...	ORPHA:158057
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Intermittent diarrhea, Obesity	OMIM:620270
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Abnormal circulat...	ORPHA:3191
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Insulin resistance, Flexion contracture, Elbow flex...	OMIM:214150
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity	OMIM:309585
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Increased pineal volume, Enlarged ovaries, Impaired glucose ...	ORPHA:769
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98855
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypogonadism, Failu...	ORPHA:73272
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,...	OMIM:619418
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	OMIM:205400
Placental Insufficiency	Hypoxemia, Insulin resistance, Small for gestational age	ORPHA:439167
Smith-Magenis Syndrome	Hypertriglyceridemia, Abnormality of the thyroid gland, Velopharyngeal insufficiency, Increased b...	OMIM:182290
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion...	ORPHA:189427
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Diarrhea, Hyperammonemia, Weight loss, Vomiting, Hyperuricemia, Hyper...	ORPHA:134
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Diarrhea, Elevated circulating thyroid-stimulating ...	ORPHA:94086
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ...	OMIM:609069
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Panniculitis, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance...	OMIM:615630
Laurence-Moon Syndrome	Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity	ORPHA:2377
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Hypertriglyceridemia	OMIM:620282
Aromatase Deficiency	Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Hyperlipidemia, I...	ORPHA:91
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98863
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
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
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Vomiting, Left ventricular hypertrophy, Hypercholesterolemia, Hyperglycemia, Hyp...	ORPHA:90065
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hypertriglyceridemia	OMIM:177000
Mehmo Syndrome	Diabetes mellitus, Obesity	ORPHA:85282
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:26793
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity...	ORPHA:77296
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Bardet-Biedl Syndrome 2	Diabetes mellitus, Hypogonadism, Obesity	OMIM:615981
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip...	OMIM:606721
Short Syndrome	Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res...	ORPHA:3163
H Syndrome	Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Malabsorption, Hepatosplenomegaly, Hypogo...	ORPHA:168569
Hernández-Aguirre Negrete Syndrome	Obesity, Delayed puberty	ORPHA:2139
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty	ORPHA:90154
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h...	OMIM:619489
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ...	ORPHA:890
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Hyponatremia, Cachexia, Malabsorption, Splenomegaly, I...	ORPHA:3452
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Inflammation of the large intestine, Hypothyroidism, Hepatic steatosis, He...	ORPHA:79259
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Microvesicular hepatic steatosis, Hepatic fibrosis, Vomiting, Hyponatremia...	ORPHA:275761
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Lipoma, High palate, Obesity, Oral-pharyngeal dysphagia	ORPHA:480907
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Laron Syndrome	Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest...	ORPHA:633
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hepatomegaly, Hyperalaninemia, Hyperglutamatemia, Hypoglycemia, Increased serum...	ORPHA:3008
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa...	ORPHA:540
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Peptic ulcer, Overweight, Splenomegaly, Obesity, Hyperpr...	ORPHA:90041
Werner Syndrome	Lipoatrophy, Lipodystrophy, Insulin resistance, Thyroid carcinoma, Hypogonadism, Type II diabetes...	ORPHA:902
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin...	ORPHA:681
Bardet-Biedl Syndrome 16	Hypogonadism, Obesity	OMIM:615993
48,Xxyy Syndrome	Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Obesity, Clef...	ORPHA:10
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypoalbuminemia, Hypothy...	OMIM:617575
Immunodeficiency 61	Frequent Giardia lamblia infestation, Colon cancer, Obesity, Malabsorption	OMIM:300310
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin resistanc...	ORPHA:90301
Xq27.3Q28 Duplication Syndrome	Truncal obesity, Failure to thrive, Hypogonadism	ORPHA:261483
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren...	ORPHA:813
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Obesity	OMIM:613670
Nephronophthisis 15	Elevated hepatic transaminase, Obesity	OMIM:614845
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Monosomy 13Q34	Hypercalcemia, Insulin resistance, Obesity, Hematochezia, Hepatic steatosis	ORPHA:96168
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit...	ORPHA:98907
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, Cleft palate, Ga...	ORPHA:819
Atypical Werner Syndrome	Failure to thrive, Hypertriglyceridemia, Lipoatrophy, Diabetes mellitus, Abnormal circulating lep...	ORPHA:79474
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Splenomegaly, Ja...	OMIM:603553
Hyperlipoproteinemia, Type I	Nausea, Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Vomiting, I...	OMIM:238600
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pan...	ORPHA:98908
Pigmented Nodular Adrenocortical Disease, Primary, 4	Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Increased body weight, Increased c...	OMIM:615830
Bardet-Biedl Syndrome 1	Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipidus, High, narrow palate, In...	OMIM:209900
11P15.4 Microduplication Syndrome	Obesity	ORPHA:300305
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Inguinal hernia, Diabetes mellitus, Failure to thrive, Intestinal malrotation...	OMIM:600001
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Summitt Syndrome	Obesity	OMIM:272350
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Obesity	OMIM:616756
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co...	ORPHA:99885
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ...	OMIM:614450
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Hyponatremia, Cyanosis, Decreased response to growth hormone stimu...	ORPHA:293987
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat...	OMIM:274300
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentr...	OMIM:277700
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C...	OMIM:256040
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell...	ORPHA:2234
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Inguinal hernia, Obesity, Cleft palate, Truncal obesity, High palate, Enamel hyp...	OMIM:618363
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h...	ORPHA:567983
11Q22.2Q22.3 Microdeletion Syndrome	High, narrow palate, Obesity	ORPHA:444002
Microtriplication 11Q24.1	Hyperlipidemia, Obesity, Cleft palate	ORPHA:289522
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97283
Leptin Deficiency Or Dysfunction	Hypogonadism, Obesity, Decreased serum leptin	OMIM:614962
Bardet-Biedl Syndrome 19	Hypogonadism, Hepatic steatosis, Obesity	OMIM:615996
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development	OMIM:610628
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Splenomegaly, Diarrhea, Increased circulating ferritin concentration, Enter...	OMIM:619802
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Abnormal circulating lip...	OMIM:616541
Borjeson-Forssman-Lehmann Syndrome	Obesity, Delayed puberty	OMIM:301900
Bardet-Biedl Syndrome 7	Hypogonadism, Obesity	OMIM:615984
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia, Flexion contracture, High palate	ORPHA:90153
Vipoma	Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, Follicular thyroid carcin...	ORPHA:97282
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Bardet-Biedl Syndrome 22	Hypogonadism, Obesity, Large for gestational age	OMIM:617119
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ...	ORPHA:2126
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure	ORPHA:156
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Diarrhea, Hyperinsulinemia, Elevated circulating creatinine con...	ORPHA:230
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Hypergl...	OMIM:307030
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Bloom Syndrome	Diabetes mellitus, Small for gestational age, Esophageal neoplasm, Adipose tissue loss, Insulin r...	ORPHA:125
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li...	ORPHA:567548
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, V...	ORPHA:470
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Elevated circu...	OMIM:619573
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty	ORPHA:141333
19P13.12 Microdeletion Syndrome	Precocious puberty, Hypothyroidism, Hyperlipidemia, Obesity, Cleft palate, Arthrogryposis multipl...	ORPHA:254346
Schaaf-Yang Syndrome	Failure to thrive in infancy, Flexion contracture, Obesity, Gastroesophageal reflux, Hypogonadism...	OMIM:615547
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Summitt Syndrome	Camptodactyly of finger, Tall stature, Obesity	ORPHA:3210
Bardet-Biedl Syndrome 4	Hypogonadism, Obesity	OMIM:615982
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Childhood-onset truncal obesity	OMIM:610156
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypertriglyceridemia, Decreased HDL c...	ORPHA:77293
Bardet-Biedl Syndrome 21	Elevated hepatic transaminase, Overweight, Obesity	OMIM:617406
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal...	OMIM:619755
15Q24 Microdeletion Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap...	ORPHA:94065
Hydrocephalus-Obesity-Hypogonadism Syndrome	High, narrow palate, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadi...	ORPHA:2183
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:618183
Beta-Mercaptolactate Cysteine Disulfiduria	Umbilical hernia, High palate, Obesity	ORPHA:1035
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity...	OMIM:612462
Dend Syndrome	Hyperglycemia, Vomiting, Elevated hemoglobin A1c	ORPHA:79134
Ppoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97278
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration, Diarrhea, Hypoplasia of the t...	OMIM:619313
Trisomy 5P	Obesity	ORPHA:1742
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu...	OMIM:270450
Rafiq Syndrome	Truncal obesity, Flexion contracture, Obesity	OMIM:614202
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hyperphosphate...	OMIM:603233
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	High palate, Hypogonadism, Obesity	ORPHA:2233
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
Pigmented Nodular Adrenocortical Disease, Primary, 2	Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula...	OMIM:610475
Gitelman Syndrome	Neoplasm of the pancreas, Maternal diabetes, Hypomagnesemia, Insulin resistance, Diarrhea, Hyperm...	ORPHA:358
Senior-Loken Syndrome 9	Hypogonadism, Hepatic fibrosis, Obesity, Cholestasis	OMIM:616629
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Chung-Jansen Syndrome	High palate, Obesity	OMIM:617991
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Septo-Optic Dysplasia Spectrum	Anterior pituitary hypoplasia, Maternal diabetes, Esophageal atresia, Obesity, Tracheoesophageal ...	ORPHA:3157
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Xanth...	OMIM:232200
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Insulin resistance	OMIM:619322
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi...	OMIM:619127
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Obesity, Congenital hypothyroidism	ORPHA:352530
48,Xxxy Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Obesity, Cleft palate, Hypogonadism, Type II ...	ORPHA:96263
Acrodysostosis 2 With Or Without Hormone Resistance	Diabetes mellitus, Obesity, Congenital hypothyroidism	OMIM:614613
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Truncal obesity, Camptodactyly of finger, Furrowed tongue	ORPHA:2928
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Diabetes mellitus, ...	ORPHA:536532
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor...	ORPHA:363618
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity, High palate	ORPHA:85280
Morm Syndrome	Truncal obesity	ORPHA:75858
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Pseudohypoparathyroidism, Obesity	OMIM:612463
Cortisone Reductase Deficiency 1	Precocious puberty, Obesity	OMIM:604931
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity	OMIM:618725
Glucagonoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97280
Clark-Baraitser Syndrome	High palate, Obesity	OMIM:617752
Baralle-Macken Syndrome	High, narrow palate, Obesity	OMIM:619255
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Down Syndrome	Aganglionic megacolon, Protruding tongue, Obesity, Narrow palate, Macroglossia, Type II diabetes ...	ORPHA:870
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Overgrowth, High palate	OMIM:605309
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose...	OMIM:219090
Joubert Syndrome 37	Hepatomegaly, High palate, Obesity	OMIM:619185
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c...	ORPHA:91355
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	High, narrow palate, Obesity	OMIM:618124
Bardet-Biedl Syndrome 6	Diabetes mellitus, Obesity	OMIM:605231
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Umbilical hernia, Obesity	ORPHA:171839
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp...	OMIM:232220
Wilson-Turner Syndrome	Truncal obesity, Hypogonadotropic hypogonadism	ORPHA:3459
13Q12.3 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Constipation, Vomiting, Camptodactyly, Failure to thrive	ORPHA:412035
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesity, Left ve...	OMIM:615418
Spastic Paraplegia 11, Autosomal Recessive	Obesity, Dysphagia	OMIM:604360
Carpenter Syndrome	Umbilical hernia, Obesity, Polysplenia	ORPHA:65759
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par...	OMIM:610489
Methanol Poisoning	Hyperlipidemia, Diarrhea, Vomiting, Type II diabetes mellitus, Type I diabetes mellitus	ORPHA:31825
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad...	OMIM:300869
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, Obesity	ORPHA:177910
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ...	OMIM:103580
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity	ORPHA:2429
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Obesity, Elevated circulating parathyroid hormone level, Hyp...	ORPHA:79445
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Hypoglycemia, Small for gestational age, Microvesicular hepatic steatosis, Dysph...	OMIM:220111
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Cleft palate, Bifid uvula, Obesity, Tall stature	OMIM:618089
Bardet-Biedl Syndrome 8	Hypogonadism, Obesity	OMIM:615985
Distal 16P11.2 Microdeletion Syndrome	Chronic constipation, Aganglionic megacolon, Obesity, Hyperuricemia	ORPHA:261222
Cornelia De Lange Syndrome 5	Cleft palate, Truncal obesity, Gastroesophageal reflux, High palate, Hypogonadism	OMIM:300882
Obesity, Hyperphagia, And Developmental Delay	Obesity	OMIM:613886
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Vomiting, Hypocalcemia, Protein-losing ente...	OMIM:619991
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Chromosome 16P13.3 Deletion Syndrome, Proximal	Failure to thrive, High palate, Obesity, Polysplenia	OMIM:610543
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypouricemia, Large...	OMIM:616026
14Q11.2 Microduplication Syndrome	Hypothyroidism, Obesity	ORPHA:261229
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, Truncal obesity, High palate, Hypogonadism, Flexion contract...	ORPHA:3041
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Flexion contracture, Obesity, High palate, Male hypogonadism, Wrist flexion contracture	OMIM:300055
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ...	OMIM:176270
Nephrotic Syndrome, Type 1	Hypoproteinemia, Small for gestational age, Pyloric stenosis, Hyperlipidemia, Gastroesophageal re...	OMIM:256300
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Precocious puberty, Obesity, Cleft palate, Hepatosplenomegaly, Chroni...	OMIM:301066
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Obesity	ORPHA:254525
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Idiopathic Intracranial Hypertension	Vomiting, Nausea, Obesity	ORPHA:238624
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Puberty and gonadal disorders, Obesity	ORPHA:464282
Urban-Rogers-Meyer Syndrome	Hypogonadism, Flexion contracture of toe, Camptodactyly of finger, Obesity	ORPHA:3409
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Obesity	OMIM:184700
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Xerostomia, Obesity, Absen...	ORPHA:398079
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Obesity	OMIM:614651
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi...	ORPHA:3464
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, High, narrow palate,...	ORPHA:369837
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Obesity, Tall stature	OMIM:300602
Turner Syndrome Due To Structural X Chromosome Anomalies	High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg...	ORPHA:99413
Turner Syndrome	High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg...	ORPHA:881
Mosaic Monosomy X	High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg...	ORPHA:99228
Monosomy X	High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg...	ORPHA:99226
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	High palate, Abnormal dental enamel morphology, Obesity	ORPHA:2180
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Diabetes mellitus, Hypercholesterolemia, Decreased response to gro...	ORPHA:273
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98754
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul...	ORPHA:158048
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Obesity-Hypoventilation Syndrome	Cyanosis, Obesity	OMIM:257500
Alagille Syndrome 1	Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,...	OMIM:118450
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Reduced circulating prolactin concentration	OMIM:264120
Congenital-Onset Steinert Myotonic Dystrophy	Diarrhea, Encopresis, Obesity, Gastroesophageal reflux, Constipation, Dysphagia, Decreased body w...	ORPHA:589821
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Obesity	ORPHA:397973
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Cardiomegaly, Neonatal hypoglycemia, Large for gestational age, ...	ORPHA:116
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity	OMIM:616521
White-Sutton Syndrome	Congenital diaphragmatic hernia, Obesity, Hypoglycemic seizures, Cleft palate, Constipation, Gast...	OMIM:616364
Xp21 Deletion Syndrome	Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent...	ORPHA:261476
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98793
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula...	OMIM:219080
Xp22.13P22.2 Duplication Syndrome	Umbilical hernia, High palate, Truncal obesity, Congenital diaphragmatic hernia	ORPHA:284180
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177904
Perrault Syndrome 4	Increased circulating gonadotropin level, Obesity, Cleft palate, Disproportionate tall stature, H...	OMIM:615300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177901
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Obesity	OMIM:300238
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Encopresis, Obesity, High palate, Gastroesophageal reflux	OMIM:618443
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity	OMIM:618821
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Pseudohypoparathyroidism, Obesity	ORPHA:464288
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Obesity, Glossoptosis, Macroglossia, Gastr...	ORPHA:444077
Griscelli Syndrome Type 2	Splenomegaly, Hepatomegaly, Jaundice, Hyperlipidemia	ORPHA:79477
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Obesity	ORPHA:411515
6Q16 Microdeletion Syndrome	Obesity	ORPHA:171829
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Pyloric stenosis, Obesity, Cleft palate, Gastroesophageal reflux...	ORPHA:261197
Bardet-Biedl Syndrome	Hypogonadism, Hypoplasia of the ovary, Hepatic fibrosis, Obesity	ORPHA:110
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Wagr Syndrome	Obesity	ORPHA:893
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob...	ORPHA:99889
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Elevated circulating aspartate...	ORPHA:466677
Radio-Tartaglia Syndrome	Precocious puberty, High, narrow palate, Obesity, Constipation, Gastroesophageal reflux, High pal...	OMIM:619312
Joubert Syndrome 8	Hepatomegaly, Obesity, Prolonged neonatal jaundice	OMIM:612291
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity	OMIM:615633
Distal Deletion 12Q	Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the young, High, narr...	ORPHA:96149
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Stomatitis, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Inflam...	OMIM:232240
Carpenter Syndrome 1	Omphalocele, Precocious puberty, Obesity, High palate, Polysplenia, Camptodactyly, Umbilical hern...	OMIM:201000
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Ascites, Hypoalbuminemia	OMIM:603278
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Constipation, Obesity, Tall stature	OMIM:618430
Atkin-Flaitz Syndrome	Obesity	ORPHA:1193
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Chronic constipation, Obesity	OMIM:619056
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri...	OMIM:618160
Magel2-Related Prader-Willi-Like Syndrome	Hypothalamic luteinizing hormone-releasing hormone deficiency, Precocious puberty, Flexion contra...	ORPHA:398069
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Obesity	OMIM:619854
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Overgrowth, Gastroesophageal reflux, Obesity, Narrow palate	OMIM:620250
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Abnormal dental enamel morphology, Obesity, Increased blood urea nitrogen, Delayed...	ORPHA:251004
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Chromosome 2Q37 Deletion Syndrome	Hypothyroidism, Obesity	OMIM:600430
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Macroglossia, Abdominal obesity, Hypogonadism, Delayed puberty	OMIM:300354
Adiposis Dolorosa	Diarrhea, Xerostomia, Obesity, Constipation, Hypothyroidism	ORPHA:36397
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Shox-Related Short Stature	High palate, Obesity	ORPHA:314795
Intellectual Developmental Disorder, Autosomal Recessive 13	Truncal obesity	OMIM:613192
Den Hoed-De Boer-Voisin Syndrome	Lactose intolerance, Overweight, Obesity, Constipation, Gastroesophageal reflux, Dysphagia, Ename...	OMIM:619229
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Obesity	ORPHA:93952
Tatton-Brown-Rahman Syndrome	Umbilical hernia, Neuroendocrine neoplasm, Proportionate tall stature, Obesity	ORPHA:404443
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Pde4D Haploinsufficiency Syndrome	Elevated circulating parathyroid hormone level, Abnormal dental enamel morphology, Obesity	ORPHA:439822
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Paradoxical increas...	ORPHA:96253
Bardet-Biedl Syndrome 3	Obesity	OMIM:600151
Atelis Syndrome 2	Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone concentration, Hyperins...	OMIM:620185
Chédiak-Higashi Syndrome	Elevated hepatic transaminase, Hyponatremia, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa...	ORPHA:167
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity, Hypomagnesemia	OMIM:616418
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, Obesity	ORPHA:363741
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hypogonadism, Obesity	OMIM:601794
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Obesity	ORPHA:3077
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	High palate, Obesity	OMIM:620191
Laurence-Moon Syndrome	Obesity	OMIM:245800
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty, Hepatomegaly, Obesity	ORPHA:163681
2Q37 Microdeletion Syndrome	Umbilical hernia, Pyloric stenosis, Obesity, Congenital diaphragmatic hernia	ORPHA:1001
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Camptodactyly of finger, Cachexia, Obesity, Hypogonadism, High palate	ORPHA:85293
X-Linked Intellectual Disability, Stevenson Type	Obesity, Tall stature	ORPHA:85325
Peripartum Cardiomyopathy	Left ventricular hypertrophy, Diabetes mellitus, Abnormality of thyroid physiology, Obesity	ORPHA:563
Momo Syndrome	Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, High palate, Ta...	ORPHA:2563
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Truncal obesity	OMIM:300957
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Tangier Disease	Left ventricular hypertrophy, Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly	ORPHA:31150
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Femoral hernia, Protruding tongue, Obesity, Macroglossia, Failure to thrive	ORPHA:96147
Kleefstra Syndrome	Bowel incontinence, Pyloric stenosis, Obesity, Macroglossia, Constipation, Gastroesophageal reflu...	ORPHA:261494
Prader-Willi Syndrome	Diabetes mellitus, Gastroparesis, Decreased response to growth hormone stimulation test, Precocio...	ORPHA:739
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Failure to thrive, Hypertriglyceridemia, Lipoatrophy, Campto...	ORPHA:3455
Intellectual Developmental Disorder, X-Linked 107	Obesity	OMIM:301013
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti...	OMIM:615926
Ulnar-Mammary Syndrome	Camptodactyly of finger, Pyloric stenosis, Obesity, Ectopic anus, Delayed puberty, Hernia of the ...	ORPHA:3138
Müllerian Aplasia And Hyperandrogenism	Obesity, Cleft palate, Increased serum testosterone level	ORPHA:247768
Megalencephaly	Truncal obesity	ORPHA:2477
X-Linked Intellectual Disability, Shashi Type	Obesity	ORPHA:85286
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Obesity, Male hypogonadism, Hypercholesterolemia, Pancreatitis	OMIM:619471
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
White-Sutton Syndrome	Ventral hernia, Abnormality of the gastrointestinal tract, Inguinal hernia, Congenital diaphragma...	ORPHA:468678
Chromosome 3Q29 Duplication Syndrome	Obesity	OMIM:611936
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Angelman Syndrome	Abnormality of the gastrointestinal tract, Precocious puberty in females, Protruding tongue, Obes...	ORPHA:72
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79444
Angelman Syndrome Due To A Point Mutation	Protruding tongue, Obesity, Dysphagia	ORPHA:411511
3Q29 Microduplication Syndrome	Obesity, Cleft palate, Ectopic anus, High palate, Camptodactyly of toe	ORPHA:251038
Borjeson-Forssman-Lehmann Syndrome	Camptodactyly of toe, Truncal obesity, Hypogonadism	ORPHA:127
8P23.1 Microdeletion Syndrome	High palate, Obesity, Congenital diaphragmatic hernia, Weight loss	ORPHA:251071
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Xylt1-Cdg	Hepatomegaly, Truncal obesity, Cleft palate	ORPHA:370930
Congenital Myopathy 9A	Obesity	OMIM:618822
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Constipation, Elbow flexion contracture, Obesity	OMIM:618493
Hutchinson-Gilford Progeria Syndrome	Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou...	ORPHA:740
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Disproportionate tall stature, Abdominal obesity, Camptodactyly	OMIM:301039
Carney Complex	Pituitary growth hormone cell adenoma, Neoplasm of the stomach, Increased body weight, Thyroid ca...	ORPHA:1359
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Protruding tongue, Constipation, Obesity, Dysphagia	ORPHA:98794
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Obesity, Dentinogenesis imperfecta, Type I diabetes mellitus	OMIM:619269
Angelman Syndrome	Macroglossia, Constipation, Obesity, Protruding tongue	OMIM:105830
Ring Chromosome Y Syndrome	Male hypogonadism, Streak ovary, Obesity	ORPHA:261529
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contracture, ...	OMIM:301072
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Nausea, Splenomegaly, Diarrhea, Increased circulating ferritin conce...	OMIM:222700
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Small for gestational age...	OMIM:264090
Chops Syndrome	Gastroparesis, Splenomegaly, High, narrow palate, Obesity, Constipation, Gastroesophageal reflux	OMIM:616368
Kleefstra Syndrome 1	Macroglossia, Gastroesophageal reflux, Obesity, Protruding tongue	OMIM:610253
Man1B1-Cdg	Truncal obesity	ORPHA:397941
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re...	ORPHA:2495
Tenorio Syndrome	Hypoglycemia, Macroglossia, Gastroesophageal reflux, Recurrent aphthous stomatitis, Hypoinsulinemia	OMIM:616260
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79443
Momo Syndrome	High palate, Overgrowth, Obesity	OMIM:157980
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Obesity, Hypogonadism, High palate	OMIM:614231
Desbuquois Dysplasia 1	Obesity	OMIM:251450
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Hyperlipidemia, Diabetes mellitus, Elevated circulatin...	ORPHA:439232
Bardet-Biedl Syndrome 17	Hypogonadism, Obesity	OMIM:615994
22Q11.2 Deletion Syndrome	Anorectal anomaly, Hypoplasia of the thymus, Gastroesophageal reflux, Hypocalcemia, Hypothyroidis...	ORPHA:567
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
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly...	ORPHA:565612
Achondroplasia	Hypoxemia, Obesity	ORPHA:15
Schimke Immuno-Osseous Dysplasia	Small for gestational age, Abnormality of thyroid physiology, Hyperlipidemia, Abnormal intestine ...	ORPHA:1830
Marbach-Schaaf Neurodevelopmental Syndrome	Submucous cleft hard palate, Obesity	OMIM:619680
Luscan-Lumish Syndrome	Overgrowth, Obesity	OMIM:616831
Cohen Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, High, narrow pa...	OMIM:216550
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus	OMIM:210720
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Intestinal malrotation, Flexion contracture, Abdominal obesity, Hypoplasia of ...	OMIM:619321
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Obesity	OMIM:194072
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, C...	ORPHA:478
Digeorge Syndrome	Inguinal hernia, Femoral hernia, Parathyroid agenesis, Decreased circulating parathyroid hormone ...	OMIM:188400
1P36 Deletion Syndrome	Camptodactyly of finger, Abnormality of the spleen, Hypothyroidism, Pyloric stenosis, Obesity, Ab...	ORPHA:1606
Cohen Syndrome	Failure to thrive in infancy, Aplasia/Hypoplasia of the tongue, High, narrow palate, Obesity, Del...	ORPHA:193
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Truncal obesity	ORPHA:3224
Williams-Beuren Syndrome	Colonic diverticula, Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hypercalce...	OMIM:194050
Autosomal Recessive Spastic Paraplegia Type 11	Overweight, Obesity, Dysphagia	ORPHA:2822
7Q11.23 Microduplication Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Obesity, Chronic constipation, High palate	ORPHA:96121
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Obesity	OMIM:617296
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Chronic diarrhea, Obe...	OMIM:615873
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Failure to thrive, Overweight, Abnormal abdomen morphology, Jaundi...	OMIM:619475
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anteriorly placed anus, Inguinal hernia, High palate, Obesity	OMIM:618653
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Obesity, Truncal obesity, Constipation, Gastroesophageal reflux, Dysphagia	ORPHA:466950
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi...	ORPHA:177907
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Hyperlipidemia, Hyperuricemia	ORPHA:35909
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Bardet-Biedl Syndrome 12	Hypogonadism, Abdominal mass, Obesity	OMIM:615989
Combined Oxidative Phosphorylation Deficiency 15	Inguinal hernia, Obesity	OMIM:614947
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Abnormality of the pineal gland, High, narrow palate, Obesity, Macroglossia, Constipation, Failur...	ORPHA:369950
Williams Syndrome	Elevated circulating creatine kinase concentration, Cardiomegaly, Rectal prolapse, Gastroesophage...	ORPHA:904
Kabuki Syndrome	Congenital diaphragmatic hernia, Precocious puberty, Obesity, Cleft palate, High palate, Failure ...	ORPHA:2322
Diamond-Blackfan Anemia 21	Chronic diarrhea, Obesity	OMIM:620072
White-Kernohan Syndrome	Obesity, Anteriorly placed anus, Gastroesophageal reflux, Rectovaginal fistula, Hypothyroidism	OMIM:619426
Chronic Thromboembolic Pulmonary Hypertension	Elevated circulating C-reactive protein concentration, Obesity, Inflammation of the large intesti...	ORPHA:70591
Adnp Syndrome	Inguinal hernia, Oral-pharyngeal dysphagia, Chronic constipation, Truncal obesity, Gastroesophage...	ORPHA:404448
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Gastrointestinal dysmotility, Obesity, Constipation, Gastroesophageal reflux, Dysphagia	ORPHA:466943
Intellectual Developmental Disorder, Autosomal Dominant 29	Ankyloglossia, High palate, Obesity, Narrow palate	OMIM:616078
Desbuquois Dysplasia 2	Truncal obesity, Bifid uvula, Cleft palate	OMIM:615777
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Wagro Syndrome	Obesity	OMIM:612469
Ulnar-Mammary Syndrome	Inguinal hernia, Ectopic posterior pituitary, Anal stenosis, Anterior pituitary hypoplasia, Pylor...	OMIM:181450
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Truncal obesity	ORPHA:2637
Rubinstein-Taybi Syndrome 1	Accessory spleen, Small for gestational age, Premature thelarche, High, narrow palate, Flexion co...	OMIM:180849
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Microcephalic Primordial Dwarfism, Dauber Type	Obesity	ORPHA:319675
Witteveen-Kolk Syndrome	Inguinal hernia, Small for gestational age, Decreased response to growth hormone stimulation test...	OMIM:613406
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Diarrhea, Increased blood urea nit...	OMIM:235400
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Intestinal malrotation, Obesity, Narrow palate, Constipation, Gastroesophageal reflux, Keloids, F...	ORPHA:353281
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Increased circulating gonadotropin level, Obesity, High palate, Delayed puberty, De...	ORPHA:1772
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Rectal prolapse, Pseudohypoparathyroidism, Obesity, Gastroesophageal reflux, High palate, Failure...	OMIM:617157
Myhre Syndrome	Small for gestational age, Obesity, Cleft palate, Camptodactyly	OMIM:139210
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Obesity	OMIM:250420
Monosomy 22Q13.3	Umbilical hernia, Gastroesophageal reflux, Obesity	ORPHA:48652
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Submucous cleft hard palate, Obesity, Congenital hypothyroidism, Gastroe...	OMIM:607872
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Intestinal malrotation, Obesity, Corneal scarring, Narrow palate, Constipation, Gastroesophageal ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Intestinal malrotation, Obesity, Corneal scarring, Narrow palate, Constipation, Gastroesophageal ...	ORPHA:353277
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Cornelia De Lange Syndrome	Intestinal malrotation, Congenital diaphragmatic hernia, Pyloric stenosis, Cleft palate, Truncal ...	ORPHA:199
Carpenter Syndrome 2	High, narrow palate, Obesity, Narrow palate, Knee flexion contracture, High palate, Camptodactyly...	OMIM:614976
Fabry Disease	Malabsorption, Hyperlipidemia, Delayed puberty, Left ventricular hypertrophy, Achalasia, Abnormal...	ORPHA:324
Tako-Tsubo Cardiomyopathy	Vomiting, Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentra...	ORPHA:66529
Primrose Syndrome	Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circulating alpha-fe...	OMIM:259050
6Q Terminal Deletion Syndrome	High, narrow palate, Failure to thrive, Obesity	ORPHA:75857
17Q24.2 Microdeletion Syndrome	Truncal obesity, Failure to thrive in infancy, Decreased response to growth hormone stimulation t...	ORPHA:529962
Leukocyte Adhesion Deficiency	Perianal abscess, Peritonitis, Recurrent aphthous stomatitis, Hyperinsulinemic hypoglycemia	ORPHA:2968
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Ascites, Hypoalbuminemia	ORPHA:567546
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Protruding tongue, Obesity, Macroglossia, Gastroesophageal reflux, Constipation, Hypogonadism, Vo...	OMIM:309580
1P21.3 Microdeletion Syndrome	Obesity	ORPHA:293948
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Truncal obesity, High palate, Camptodactyly, Failure to thrive, Bifid uvula	OMIM:612474
Pallister-Killian Syndrome	Omphalocele, Inguinal hernia, Anal stenosis, Intestinal malrotation, Congenital diaphragmatic her...	OMIM:601803
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665

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 Aida

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 Aida.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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