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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
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... OMIM:612526
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... 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
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... OMIM:151660
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... ORPHA:75234
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Adipose tissue loss, Insuli... ORPHA:528
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe... ORPHA:69663
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... OMIM:615980
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... OMIM:620211
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... OMIM:616222
Galactokinase Deficiency
Hepatomegaly, Small for gestational age, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Incr... ORPHA:79237
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Abnormal circulating selenium concentration ORPHA:171706
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Cholestasis, Hypoglycemic seizures, Failure ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Cholestasis, Hypoglycemic seizures, Failure ... ORPHA:71526
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos... OMIM:278000
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... ORPHA:209902
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... ORPHA:324575
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Laron Syndrome
Hypercholesterolemia, Hypoglycemia, Truncal obesity ORPHA:633
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity OMIM:617885
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... ORPHA:412
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Diabetes mellitus, Hyperuricemia, Obesity ORPHA:77296
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Narcolepsy Type 1
Obesity ORPHA:2073
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Hepatic steatosis, Obesity OMIM:620195
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ... ORPHA:890
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Obesity, Truncal obesity, Hyperc... ORPHA:96184
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Insulin resistance ORPHA:140941
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa... ORPHA:263501
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... ORPHA:264580
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... OMIM:248370
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu... ORPHA:276575
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure ORPHA:369873
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Cardiomegaly ORPHA:88643
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased ... ORPHA:276556
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... ORPHA:276580
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... ORPHA:2089
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Abnormal circulat... ORPHA:3191
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypoinsulinemia, Obesity, Reactive hypoglycemia OMIM:600955
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture OMIM:618856
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Summitt Syndrome
Obesity OMIM:272350
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes... ORPHA:79085
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... ORPHA:263455
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Nephronophthisis 15
Elevated hepatic transaminase, Obesity OMIM:614845
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Incr... OMIM:615238
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Mehmo Syndrome
Small for gestational age, Obesity, Hypoglycemia OMIM:300148
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Obesity, Cholestasis, Hypoglycemic seizures, Hyperbilirubin... OMIM:609734
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Retinitis Pigmentosa
Atypical scarring of skin, Type II diabetes mellitus, Hyperinsulinemia, Obesity ORPHA:791
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... OMIM:615630
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased body weight, Abdominal obesity, Hyperglycemia OMIM:615954
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... OMIM:607765
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98855
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Dorsocervical fat pad, Increased body weight, Increased circulating cortisol l... OMIM:615830
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu... OMIM:300972
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulating free fat... ORPHA:79644
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive ORPHA:261483
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as... ORPHA:2088
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Keloids, Hyperinsulinemia, Obesity ORPHA:3085
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Increased proinsulin:insulin... ORPHA:94086
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc... ORPHA:90041
Mehmo Syndrome
Diabetes mellitus, Obesity ORPHA:85282
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98863
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Obesity ORPHA:66628
Microtriplication 11Q24.1
Hyperlipidemia, Obesity ORPHA:289522
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
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... ORPHA:26793
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Obesity ORPHA:179494
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Obesity ORPHA:819
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity ORPHA:480907
Bardet-Biedl Syndrome 2
Diabetes mellitus, Obesity OMIM:615981
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Summitt Syndrome
Camptodactyly of finger, Obesity, Tall stature ORPHA:3210
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Trisomy 5P
Obesity ORPHA:1742
Lysosomal Acid Lipase Deficiency
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Bardet-Biedl Syndrome 21
Elevated hepatic transaminase, Overweight, Obesity OMIM:617406
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Donohue Syndrome
Adipose tissue loss, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyper... OMIM:246200
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Temple Syndrome
Type II diabetes mellitus, Recurrent hypoglycemia, Small for gestational age, Obesity ORPHA:254516
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hypercholesterolemia, Hyperglycemia ORPHA:90065
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:606721
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... ORPHA:189427
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesity, Left ve... OMIM:615418
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... OMIM:618363
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Bardet-Biedl Syndrome 19
Hepatic steatosis, Obesity OMIM:615996
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Hypercholesterolemia, Pancreatitis, Obesity OMIM:619471
Morm Syndrome
Truncal obesity ORPHA:75858
Obesity-Hypoventilation Syndrome
Cyanosis, Obesity OMIM:257500
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
Rafiq Syndrome
Truncal obesity, Flexion contracture, Obesity OMIM:614202
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... ORPHA:98907
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Umbilical hernia, Prolonged neonatal jaundice, Hypercho... ORPHA:90674
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Aromatase Deficiency
Eunuchoid habitus, Enlarged polycystic ovaries, Hyperlipidemia, Insulin resistance, Obesity, Type... ORPHA:91
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hepatocellul... ORPHA:79259
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity OMIM:619737
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,... ORPHA:470
Biemond Syndrome Type 2
Obesity ORPHA:141333
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Xanthel... OMIM:210250
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Cardiomegaly, Hepatocel... ORPHA:465508
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... OMIM:227810
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... OMIM:203800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large... OMIM:616026
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Immunodeficiency 61
Obesity OMIM:300310
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
48,Xxyy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Type II diabetes mellitus, Tall stature ORPHA:10
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy ORPHA:363618
Chung-Jansen Syndrome
Obesity OMIM:617991
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hyperlipidemia, Hepatic steatosis, Obesity ORPHA:254346
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Truncal obesity, Incr... OMIM:610475
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased body weight OMIM:614450
Baralle-Macken Syndrome
Obesity OMIM:619255
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Type II diabetes mellitus, Obesity ORPHA:2234
Senior-Loken Syndrome 9
Hepatic fibrosis, Obesity, Cholestasis OMIM:616629
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity OMIM:612463
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Clark-Baraitser Syndrome
Obesity OMIM:617752
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
Carpenter Syndrome
Umbilical hernia, Obesity, Polysplenia ORPHA:65759
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive, ... ORPHA:73272
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Overgrowth OMIM:605309
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity ORPHA:2183
Schaaf-Yang Syndrome
Failure to thrive in infancy, Flexion contracture, Obesity, Camptodactyly, Arthrogryposis multipl... OMIM:615547
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia... OMIM:615453
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Obesity OMIM:610628
Leptin Receptor Deficiency
Diabetes mellitus, Obesity OMIM:614963
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pan... ORPHA:98908
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
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Joubert Syndrome 37
Hepatomegaly, Obesity OMIM:619185
15Q24 Microdeletion Syndrome
Small for gestational age, Congenital diaphragmatic hernia, Obesity, Hernia, Failure to thrive ORPHA:94065
Short Syndrome
Inguinal hernia, Lipoatrophy, Small for gestational age, Lipodystrophy, Insulin resistance, Absen... OMIM:269880
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li... ORPHA:440713
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Large for gestational age, Overgrowth, Umbilical hernia, Enlarged kidney OMIM:618272
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
14Q11.2 Microduplication Syndrome
Obesity ORPHA:261229
Essential Fructosuria
Hyperglycemia ORPHA:2056
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Pseudohypoparathyroidism, Type Ic
Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia OMIM:612462
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Obesity, Tall stature OMIM:618089
Wagr Syndrome
Obesity ORPHA:893
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia, Obesity ORPHA:261222
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity, Polysplenia OMIM:610543
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... ORPHA:247353
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Obesity OMIM:614613
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity ORPHA:464282
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Flexion contracture of toe, Obesity ORPHA:3409
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... OMIM:175700
Adrenocortical Carcinoma
Diabetes mellitus, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... ORPHA:1501
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Laurence-Moon Syndrome
Obesity OMIM:245800
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... OMIM:615710
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Obesity, Glucose intolerance, Hypokalemia, Abdominal obesity OMIM:219090
Monosomy 13Q34
Insulin resistance, Hepatic steatosis, Hypercalcemia, Obesity ORPHA:96168
Retinitis Pigmentosa 51
Obesity OMIM:613464
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Diabetes mellitus, Small for gestational age, Increased body weight OMIM:274300
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Enamel hypoplasia, Hyperphosphatemia, Obesity OMIM:103580
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Truncal obesity, Decreased... OMIM:270450
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Flexion contracture, Wrist flexion contracture, Obesity OMIM:300055
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Obesity ORPHA:93952
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Hypercalcemia, Obesity, Increased blood urea nitrogen, Enlarge... ORPHA:251004
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Truncal obesity, Flexion contracture of digit ORPHA:3041
Acth-Independent Macronodular Adrenal Hyperplasia
Primary hypercortisolism, Truncal obesity, Increased circulating cortisol level OMIM:219080
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Alagille Syndrome 1
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,... OMIM:118450
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Xp22.13P22.2 Duplication Syndrome
Truncal obesity, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:284180
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Small for gestational age, Limb j... ORPHA:404454
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Pigmented Nodular Adrenocortical Disease, Primary, 1
Primary hypercortisolism, Truncal obesity, Increased circulating cortisol level, Paradoxical incr... OMIM:610489
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Bdv Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Obesity OMIM:619326
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Small for gestational age OMIM:300869
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia... ORPHA:391673
Cornelia De Lange Syndrome 5
Truncal obesity OMIM:300882
Megalencephaly
Truncal obesity ORPHA:2477
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia ORPHA:134
48,Xxxy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Type II diabetes mellitus, Tall stature ORPHA:96263
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Pancre... OMIM:609069
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Congenital Myopathy 9A
Obesity OMIM:618822
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature OMIM:618430
Shox-Related Short Stature
Obesity ORPHA:314795
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Proportionate tall stature, Obesity ORPHA:404443
Bardet-Biedl Syndrome
Hepatic fibrosis, Obesity ORPHA:110
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca... OMIM:309000
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recurrent hypoglycemia ORPHA:813
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Abnormal circulating lip... OMIM:616541
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity OMIM:620191
Bardet-Biedl Syndrome 1
Diabetes mellitus, Insulin resistance, Biliary tract abnormality, Obesity, Truncal obesity, Abdom... OMIM:209900
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins... ORPHA:508
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Failure to thrive, H... ORPHA:3008
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Obesity OMIM:618443
Carpenter Syndrome 1
Omphalocele, Obesity, Polysplenia, Camptodactyly, Umbilical hernia, Joint contracture of the hand OMIM:201000
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Obesity, Hepatosplenomegaly, Umbilical hernia, Cholecystitis, Choleli... OMIM:301066
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity OMIM:620250
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Rabin-Pappas Syndrome
Hyponatremia, Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Disproportionate tall stature, Abdominal obesity, Camptodactyly OMIM:301039
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia ORPHA:254534
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Obesity ORPHA:163681
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity OMIM:300354
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:439822
Down Syndrome
Umbilical hernia, Type II diabetes mellitus, Obesity ORPHA:870
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Decreased body weight ORPHA:589821
White-Sutton Syndrome
Hypoglycemic seizures, Failure to thrive, Obesity, Congenital diaphragmatic hernia OMIM:616364
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Tall stature, Inguinal hernia, Hypoglycemia, Elevated circulating alph... ORPHA:116
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Failure to thrive, Femoral hernia, Obesity ORPHA:96147
Momo Syndrome
Overgrowth, Obesity, Tall stature, Large for gestational age ORPHA:2563
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:261197
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Intrahepatic bile duct dilatati... OMIM:619534
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
2Q37 Microdeletion Syndrome
Umbilical hernia, Obesity, Congenital diaphragmatic hernia ORPHA:1001
Radio-Tartaglia Syndrome
Obesity OMIM:619312
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphology, Atypical scarrin... ORPHA:534
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Inguinal hernia, Obesity, Cachexia ORPHA:85293
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
Perrault Syndrome 4
Disproportionate tall stature, Obesity OMIM:615300
Man1B1-Cdg
Truncal obesity ORPHA:397941
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Obesity ORPHA:91355
Achondroplasia
Hypoxemia, Obesity ORPHA:15
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity ORPHA:127
8P23.1 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Weight loss ORPHA:251071
Desbuquois Dysplasia 1
Obesity OMIM:251450
Cushing Disease
Diabetes mellitus, Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethaso... ORPHA:96253
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... ORPHA:79102
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Decreased body weight, Enamel hypoplasia, Amelogenesis imperfecta OMIM:619229
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contracture, ... OMIM:301072
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity OMIM:618493
Peripartum Cardiomyopathy
Left ventricular hypertrophy, Diabetes mellitus, Obesity ORPHA:563
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Ring Chromosome Y Syndrome
Obesity ORPHA:261529
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Septo-Optic Dysplasia Spectrum
Obesity, Maternal diabetes ORPHA:3157
Sim1-Related Prader-Willi-Like Syndrome
Type II diabetes mellitus, Abdominal obesity, Failure to thrive, Obesity ORPHA:398079
Bardet-Biedl Syndrome 17
Obesity OMIM:615994
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose tolerance, Insulin resist... ORPHA:769
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint contracture, Glycosur... ORPHA:99885
Sotos Syndrome
Tall stature, Increased body weight, Glucose intolerance, Overgrowth, Prolonged neonatal jaundice... OMIM:117550
Adiposis Dolorosa
Obesity ORPHA:36397
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity OMIM:194072
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Hyperamm... OMIM:222700
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Elevated hepatic transaminase, Cyanosis, Hyperlipidemia, Hyperkalemia, Obesity, Hyp... ORPHA:293987
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... OMIM:124000
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Obesity ORPHA:369837
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Müllerian Aplasia And Hyperandrogenism
Obesity ORPHA:247768
Webb-Dattani Syndrome
Hypernatremia, Obesity OMIM:615926
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Kleefstra Syndrome
Obesity, Hernia ORPHA:261494
Distal Deletion 12Q
Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the young, Biliary at... ORPHA:96149
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Obesity, Congenital diaphragmatic hernia ORPHA:468678
Pseudohypoparathyroidism Type 1C
Calcinosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia, Hyp... ORPHA:79444
Atypical Werner Syndrome
Hypertriglyceridemia, Lipoatrophy, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fastin... ORPHA:79474
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hyperchol... ORPHA:273
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Prader-Willi Syndrome
Failure to thrive in infancy, Hyperinsulinemia, Obesity, Abdominal obesity, Type II diabetes mell... OMIM:176270
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Angelman Syndrome
Obesity OMIM:105830
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Kleefstra Syndrome 1
Obesity OMIM:610253
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Increased body weight, Abdominal obesity, Type II diabetes mellitus, Failure... ORPHA:398069
Cohen Syndrome
Small for gestational age, Childhood-onset truncal obesity OMIM:216550
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Type I diabetes mellitus, Dentinogenesis imperfecta, Obesity OMIM:619269
Ulnar-Mammary Syndrome
Camptodactyly of finger, Hernia of the abdominal wall, Obesity ORPHA:3138
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Failure to thrive, Small for gestational age, Obesity ORPHA:98754
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Perlman Syndrome
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Pancreatic islet-cell h... OMIM:267000
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ... ORPHA:125
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Failure to thrive, Small for gestational age, Obesity ORPHA:98793
Chops Syndrome
Splenomegaly, Obesity OMIM:616368
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Failure to thrive, Small for gestational age, Obesity ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Failure to thrive, Small for gestational age, Obesity ORPHA:177901
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Obesity ORPHA:2235
Pseudohypoparathyroidism Type 1A
Calcinosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia, Hyp... ORPHA:79443
Bardet-Biedl Syndrome 12
Abdominal mass, Obesity OMIM:615989
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Obesity OMIM:614947
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Biliary ... OMIM:600001
Angelman Syndrome
Obesity ORPHA:72
Cohen Syndrome
Failure to thrive in infancy, Obesity ORPHA:193
Wagro Syndrome
Obesity OMIM:612469
Chronic Thromboembolic Pulmonary Hypertension
Increased HDL cholesterol concentration, Obesity, Elevated circulating C-reactive protein concent... ORPHA:70591
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity ORPHA:2822
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus OMIM:210720
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Jaundice, Diabetes mellitus, Obesity OMIM:614231
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Abdominal obesity, Flexion contracture, Hepatic steatosis OMIM:619321
7Q11.23 Microduplication Syndrome
Inguinal hernia, Obesity, Congenital diaphragmatic hernia ORPHA:96121
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Diabetes mellitus, Dorsocervical fat pad, Paradoxical increased cortis... ORPHA:99889
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Biliary cirrhosis,... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Biliary cirrhosis,... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Biliary cirrhosis,... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Biliary cirrhosis,... ORPHA:99226
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Overweight, Abnormal abdomen morphology, Jaundice, Obesity, Hyperb... OMIM:619475
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Obesity OMIM:618653
22Q11.2 Deletion Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Splenomegaly, Obesity, Umbilical hernia, Hypo... ORPHA:567
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis ORPHA:391665
Retinitis Pigmentosa 74
Obesity OMIM:616562
Kallmann Syndrome
Obesity ORPHA:478
Craniopharyngioma
Type II diabetes mellitus, Obesity ORPHA:54595
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Truncal obesity, Obesity ORPHA:466950
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Small for gestational age, Hypoglycemia, Microvesicular hepatic steatosis, Hyper... OMIM:220111
Prader-Willi Syndrome Due To Translocation
Obesity ORPHA:177907
Kabuki Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity OMIM:616078
Prader-Willi Syndrome
Diabetes mellitus, Abdominal obesity, Failure to thrive ORPHA:739
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity ORPHA:2637
Meningioma
Decreased circulating cortisol level, Obesity ORPHA:2495
Helsmoortel-Van Der Aa Syndrome
Truncal obesity, Failure to thrive, Obesity, Enlarged kidney OMIM:615873
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Obesity ORPHA:369950
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Splenomegaly, Obesity, Umbilical hernia, Hypocalcemia, Cholelith... OMIM:188400
Adnp Syndrome
Truncal obesity, Inguinal hernia, Umbilical hernia ORPHA:404448
1P36 Deletion Syndrome
Camptodactyly of finger, Abnormality of the spleen, Obesity, Abnormality of the liver, Annular pa... ORPHA:1606
Carney Complex
Neoplasm of the pancreas, Dorsocervical fat pad, Increased body weight, Increased circulating cor... ORPHA:1359
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Tako-Tsubo Cardiomyopathy
Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration ORPHA:66529
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Obesity ORPHA:444077
Alström Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Dorsocervical fat pad, Portal ... ORPHA:64
Myhre Syndrome
Small for gestational age, Obesity, Camptodactyly OMIM:139210
Williams-Beuren Syndrome
Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Portal hypertens... OMIM:194050
Scorpion Envenomation
Acute pancreatitis, Increased circulating NT-proBNP concentration, Elevated circulating aspartate... ORPHA:466677
White-Kernohan Syndrome
Obesity OMIM:619426
Williams Syndrome
Inguinal hernia, Failure to thrive in infancy, Hypercalcemia, Elevated circulating creatine kinas... ORPHA:904
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Hellp Syndrome
Elevated hepatic transaminase, Increased body weight ORPHA:244242
Xq21 Microdeletion Syndrome
Obesity ORPHA:1435
Rubinstein-Taybi Syndrome 1
Accessory spleen, Small for gestational age, Flexion contracture, Truncal obesity, Hepatic hemang... OMIM:180849
Monosomy 22Q13.3
Umbilical hernia, Obesity ORPHA:48652
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Carpenter Syndrome 2
Umbilical hernia, Obesity, Camptodactyly, Knee flexion contracture OMIM:614976
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Keloids, Failure to thrive, Obesity ORPHA:353281
Witteveen-Kolk Syndrome
Inguinal hernia, Small for gestational age, Congenital diaphragmatic hernia, Obesity, Contracture... OMIM:613406
17Q24.2 Microdeletion Syndrome
Truncal obesity, Failure to thrive in infancy ORPHA:529962
Ulnar-Mammary Syndrome
Inguinal hernia, Elbow flexion contracture, Obesity 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
Keloids, Failure to thrive, Obesity, Corneal scarring ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Keloids, Failure to thrive, Obesity, Corneal scarring ORPHA:353277
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Obesity, Camptodactyly OMIM:607872
Primrose Syndrome
Hip contracture, Diabetes mellitus, Elevated circulating alpha-fetoprotein concentration, Flexion... OMIM:259050
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncal obesity, Failure to thrive, Camptodactyly OMIM:612474
Cornelia De Lange Syndrome
Truncal obesity, Failure to thrive, Congenital diaphragmatic hernia ORPHA:199
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Obesity OMIM:309580
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Obesity, Camp... 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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