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Gene: Gpr12 MGI:101909

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
G-protein coupled receptor 12
Synonyms:
Gpcr01,  Gpcr12,  Gpcr20

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 Gpr12 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.

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

The table below shows human diseases predicted to be associated to Gpr12 by phenotypic similarity.

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

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 Gpr12

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 Gpr12.

No publications found that use IMPC mice or data for Gpr12.

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