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Gene: Gpbar1 MGI:2653863

Gene Summary

Name:

G protein-coupled bile acid receptor 1

Synonyms:

GPR131, M-BAR, TGR5, BG37

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal kidney morphology	Gpbar1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
enlarged heart	Gpbar1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
increased circulating alanine transaminase level	Gpbar1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	7.85×10^-16
small testis	Gpbar1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
abnormal testis morphology	Gpbar1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
abnormal heart morphology	Gpbar1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
abnormal lymph node morphology	Gpbar1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Colon	Section images	heterozygote	100% (2 of 2)
Duodenum	Section images	heterozygote	50% (1 of 2)
Epididymis	Section images	heterozygote	50% (1 of 2)
Ileum	Section images	heterozygote	100% (2 of 2)
Jejunum	Section images	heterozygote	50% (1 of 2)
Prostate gland	Section images	heterozygote	50% (1 of 2)
Stomach	Section images	heterozygote	50% (1 of 2)
Tongue	Section images	heterozygote	50% (1 of 2)
Vas deferens	Section images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Bone marrow	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	Not available
Cecum	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	Not available
Gonadal fat pad	N/A	heterozygote	0.0% (0 of 2)
Harderian gland	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	Not available
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Mesenteric adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Parotid gland	N/A	heterozygote	0.0% (0 of 2)
Penis	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Quadriceps	N/A	heterozygote	0.0% (0 of 2)
Sciatic nerve	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	Not available
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Striatum	N/A	heterozygote	Not available
Sublingual gland	N/A	heterozygote	0.0% (0 of 2)
Submandibular gland	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Trigeminal V nerve	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vagina	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	Not available

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Gpbar1 mutations

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

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

Human diseases associated with Gpbar1 (0 diseases)
Human diseases predicted to be associated with Gpbar1 (706 diseases)

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

The table below shows human diseases predicted to be associated to Gpbar1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 7	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:606392
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis	OMIM:300752
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-onset diabetes of the young	OMIM:125851
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus	OMIM:125852
Type 1 Diabetes Mellitus 20	Type I diabetes mellitus	OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9	Maturity-onset diabetes of the young	OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6	Maturity-onset diabetes of the young	OMIM:606394
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Cholangiocarcinoma, Susceptibility To	Cholangiocarcinoma	OMIM:615619
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis	OMIM:614156
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hypertriglyceridemia	OMIM:177000
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Pancreatic Colipase Deficiency	Cholelithiasis, Steatorrhea, Exocrine pancreatic insufficiency	ORPHA:309108
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Intrahepatic cho...	ORPHA:69663
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis	ORPHA:79278
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:613470
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Alpha-Thalassemia	Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis	ORPHA:846
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:232700
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis	OMIM:235700
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Obesity	OMIM:608320
Spherocytosis, Type 1	Splenomegaly, Jaundice, Cholelithiasis	OMIM:182900
Hepatic Venoocclusive Disease With Immunodeficiency	Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Ma...	ORPHA:209902
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Ethanolaminosis	Cardiomegaly	OMIM:227150
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:266200
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Mirizzi Syndrome	Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Ab...	ORPHA:521219
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Beta-Thalassemia	Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis	ORPHA:848
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	OMIM:615703
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis	OMIM:194380
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cholestatic liver disease, Cholelithiasis	ORPHA:79095
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop...	OMIM:612526
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Cholangiocarcinoma	Biliary tract neoplasm, Jaundice, Acholic stools	ORPHA:70567
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hyp...	ORPHA:276580
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Glycogen Storage Disease Vii	Cholelithiasis, Jaundice	OMIM:232800
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy	OMIM:160900
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,...	ORPHA:276608
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia	ORPHA:329249
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly	ORPHA:3166
Crigler-Najjar Syndrome Type 1	Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice	ORPHA:79234
Obesity And Hypopigmentation	Hyperinsulinemia	OMIM:620195
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom...	ORPHA:231222
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Generalized Pseudohypoaldosteronism Type 1	Glucocortocoid-insensitive primary hyperaldosteronism, Cholelithiasis	ORPHA:171876
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:307500
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hypoglycemia, Hyperins...	ORPHA:276575
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen...	OMIM:619326
Martinez-Frias Syndrome	Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal...	OMIM:601346
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic...	OMIM:262190
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
North American Indian Childhood Cirrhosis	Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice	OMIM:604901
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty	OMIM:616033
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Glycogen Storage Disease Xii	Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration...	OMIM:611881
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Sickle Cell Disease	Hepatomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis	OMIM:603903
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97278
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia	OMIM:245550
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Cholelithiasis, Hepatic failure	OMIM:614886
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Cholestasis	ORPHA:232
Plin1-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co...	ORPHA:280356
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
Hereditary Elliptocytosis	Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice	ORPHA:288
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly, Congenital hypothyroidism	ORPHA:88643
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia	ORPHA:369873
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Reticuloendotheliosis, X-Linked	Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	OMIM:109720
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Hereditary Spherocytosis	Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis	ORPHA:822
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Triosephosphate Isomerase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis	OMIM:615512
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy...	OMIM:615710
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy...	ORPHA:171
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulati...	OMIM:235200
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97261
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis	OMIM:618775
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ...	OMIM:604367
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i...	ORPHA:552
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice	ORPHA:3202
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal...	ORPHA:1414
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis	OMIM:240300
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Meckel Syndrome, Type 6	Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts	OMIM:612284
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem...	ORPHA:276556
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo...	ORPHA:100083
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Lymphadenopathy, Hepatosplenomegaly	OMIM:619126
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d...	OMIM:267010
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ...	ORPHA:481
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet...	ORPHA:79644
Cerebrotendinous Xanthomatosis	Cholelithiasis, Xanthelasma	OMIM:213700
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cryptorchidism, Cholelithiasis, Decreased testicular size	OMIM:300534
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:791
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure	ORPHA:774
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Overweight, Flexion contracture, Obesity, Trunca...	OMIM:616222
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration	OMIM:313200
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Metachromatic Leukodystrophy	Gallbladder dysfunction, Cholecystitis	OMIM:250100
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology	ORPHA:85447
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Dubin-Johnson Syndrome	Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:234
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus	ORPHA:3085
Kerion Celsi	Lymphadenopathy	ORPHA:499
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc...	ORPHA:457083
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:608971
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Obesity	ORPHA:254531
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97283
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Decreased liver function, Hypoplastic nipples...	OMIM:618268
Acth Deficiency, Isolated	Cholestasis, Jaundice, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency	OMIM:201400
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis	OMIM:610688
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly	OMIM:618955
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia	ORPHA:565899
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Porphyria, Congenital Erythropoietic	Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis	OMIM:263700
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Hypersplenism, Splenomegaly, Hyperlipidemia, Neoplasm of the ...	ORPHA:77293
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Hypercholesterolemia, Failure to thrive...	ORPHA:528
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly	OMIM:301066
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Meckel Syndrome, Type 4	Bile duct proliferation	OMIM:611134
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism	OMIM:145750
Kimura Disease	Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Insulin-Resistance Syndrome Type B	Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-...	ORPHA:2298
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the ovary, Hyperuricemia, Abnormal lymph node morphology	ORPHA:543
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosuria, Hyperinsul...	ORPHA:263455
Galactokinase Deficiency	Small for gestational age, Increased level of galactitol in plasma, Hypergalactosemia, Hyperchole...	ORPHA:79237
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Biliary t...	ORPHA:100086
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Hepatomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L...	OMIM:603552
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho...	OMIM:246700
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Neona...	ORPHA:293964
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis	ORPHA:464738
Perlman Syndrome	Hyperinsulinemia	ORPHA:2849
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo...	ORPHA:319487
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly	OMIM:619170
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Distal Duplication 5Q	Cryptorchidism, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Laron Syndrome	Hypercholesterolemia, Truncal obesity	ORPHA:633
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Abnormal testis morphology, Elevated circulating C-reactive prote...	ORPHA:54251
Metachromatic Leukodystrophy	Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder	ORPHA:512
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,...	OMIM:615559
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia	ORPHA:363400
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Nephropathy	ORPHA:100024
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom...	ORPHA:97290
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia, Obesity	ORPHA:77296
Alpha-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Hypocalcemia, Lymphadenopathy	ORPHA:100025
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Nephrotic syndrome	OMIM:269920
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas...	OMIM:618329
Congenital Toxoplasmosis	Hepatomegaly, Lymphadenopathy, Cardiomegaly	ORPHA:858
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy...	OMIM:613101
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral...	OMIM:308750
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia, Small for gestational age, Obesity, Truncal obesity	ORPHA:96184
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Increased body weight	OMIM:182290
Cog4-Cdg	Hypercholesterolemia, Failure to thrive in infancy	ORPHA:263501
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat...	ORPHA:300373
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Cardiomegaly,...	ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Cardiom...	OMIM:618838
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Steator...	ORPHA:79303
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate...	ORPHA:90003
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat...	OMIM:300280
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Heme Oxygenase 1 Deficiency	Hepatomegaly, Proteinuria, Elevated circulating C-reactive protein concentration, Asplenia, Incre...	OMIM:614034
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:212140
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:255120
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas	ORPHA:97297
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Lymphadenitis, Acute kid...	OMIM:618886
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Donohue Syndrome	Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po...	OMIM:246200
Hardikar Syndrome	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy...	OMIM:301068
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Familial Renal Glucosuria	Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm...	ORPHA:69076
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	ORPHA:412
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly	OMIM:619064
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Pancreatic hypoplasia	ORPHA:83617
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib...	ORPHA:731
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Li...	OMIM:248370
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia	ORPHA:401923
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Mediastinal lymphadenopathy, Ovarian...	ORPHA:83469
8P Inverted Duplication/Deletion Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the gallbladder	ORPHA:96092
Immunodeficiency 27A	Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, Hypoalbuminemia	OMIM:209950
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio...	OMIM:208500
Cerebrotendinous Xanthomatosis	Cholelithiasis, Prolonged neonatal jaundice	ORPHA:909
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:614702
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenom...	ORPHA:97289
Lymphoproliferative Syndrome 3	Lymphadenopathy, Hepatosplenomegaly	OMIM:618261
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Pentalogy Of Cantrell	Absent gallbladder, Polysplenia	ORPHA:1335
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:619051
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Cholelithiasis	ORPHA:2072
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ...	ORPHA:85451
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Bile duct proliferation, ...	OMIM:261515
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating...	ORPHA:42
Wolfram Syndrome 1	Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Cardiomyopathy, Hypothyro...	OMIM:222300
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno...	OMIM:256550
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Immunodeficiency, Common Variable, 2	Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ...	ORPHA:324410
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus	OMIM:608612
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Obesity	ORPHA:819
Mpi-Cdg	Hypothyroidism, Hyperinsulinemic hypoglycemia	ORPHA:79319
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Hypercholesterolemia, Decreased response to growth hormone stimula...	ORPHA:273
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Lymphadenopathy, Fluctuating splenomegaly	OMIM:619220
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:201475
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:203700
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Cholelithiasis	ORPHA:567
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, N...	OMIM:617713
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	OMIM:300853
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Steinfeld Syndrome	Absent gallbladder	OMIM:184705
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Abnormal pineal melatonin s...	ORPHA:69665
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polyc...	ORPHA:2869
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Immunodeficiency 109 With Lymphoproliferation	Generalized lymphadenopathy, Splenomegaly, Hypertriglyceridemia	OMIM:620282
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Lymphadenopathy, Hepatosplenomegaly	OMIM:618982
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal insuffic...	OMIM:609981
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Splenomegaly, Thyroiditis, Lymphadenopathy	OMIM:619375
Triploidy	Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas, Cryptorchidism	ORPHA:3376
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ...	OMIM:602782
Alstrom Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i...	OMIM:203800
Immunodeficiency 64 With Lymphoproliferation	Splenomegaly, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplen...	OMIM:618534
Immunodeficiency 52	Splenomegaly, Lymphadenopathy	OMIM:617514
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal...	ORPHA:57777
Rabson-Mendenhall Syndrome	Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast...	ORPHA:769
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Lymphadenopathy, Eleva...	OMIM:619750
Genitopalatocardiac Syndrome	Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder	ORPHA:2075
Lymphoproliferative Syndrome 1	Hepatomegaly, Elevated circulating C-reactive protein concentration, Pericardial effusion, Increa...	OMIM:613011
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Hypothyroidism, Hypocalcemia, Tetralogy of Fallot, Paten...	OMIM:601005
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased serum iron, Lymphadenopathy	OMIM:212050
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Epididymitis, Abnormality of the lympha...	ORPHA:2035
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Roifman Syndrome	Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Mulibrey Nanism	Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly	OMIM:253250
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglyc...	ORPHA:71212
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Pancreatic aplasia, Absent gallbladder, Elevated circulating alanine aminotransferase concentrati...	OMIM:618500
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Elevated circulating C-reactive protein concent...	ORPHA:160
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder	ORPHA:349
Leukocyte Adhesion Deficiency, Type Iii	Splenomegaly, Hepatomegaly, Abnormal lymph node morphology, Hepatosplenomegaly	OMIM:612840
Classic Mycosis Fungoides	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:2584
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Elevated circulating...	OMIM:619644
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Refsum Disease, Classic	Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal physiology, Card...	OMIM:266500
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Biliary cirrhosis, Choles...	OMIM:613610
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho...	OMIM:210250
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Abnormal urinary color, Lymphadenopathy	ORPHA:56425
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Splenomegaly, Lymphadenopathy	OMIM:616651
Digeorge Syndrome	Parathyroid agenesis, Splenomegaly, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hypop...	OMIM:188400
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Schnitzler Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:37748
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Activated Pi3K-Delta Syndrome	Splenomegaly, Hepatomegaly, Recurrent tonsillitis, Lymphadenopathy	ORPHA:397596
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopath...	OMIM:308240
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Lathosterolosis	Elevated hepatic transaminase, Intrahepatic cholestasis, Bilobate gallbladder, Hepatosplenomegaly	OMIM:607330
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ...	ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Increased body weight, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Elevated circulating C-reactive protein ...	ORPHA:829
Acquired Generalized Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia	ORPHA:79086
Fanconi Anemia, Complementation Group Q	Biliary atresia	OMIM:615272
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase con...	OMIM:608836
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Generalized Eruptive Histiocytosis	Lymphadenopathy	ORPHA:157991
Leishmaniasis	Splenomegaly, Hepatomegaly, Hypoalbuminemia, Lymphadenopathy	ORPHA:507
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Cardiomegaly	ORPHA:3137
Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism	OMIM:300712
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Lymphadenopathy, Type II diabetes mellitus, Hy...	ORPHA:99812
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Griscelli Syndrome Type 2	Splenomegaly, Hepatomegaly, Hyperlipidemia, Lymphadenopathy	ORPHA:79477
Cinca Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly	OMIM:607115
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Portal hypertension, Cholestasis, Bile duct proliferation, Decreas...	OMIM:613658
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbladder, Pancreatic hypoplasia...	ORPHA:2255
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Trisomy 8P	Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the gallbladder	ORPHA:264450
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven...	OMIM:306955
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy...	OMIM:616897
Classic Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin level, Umbilical hernia, Hypercholesterolemia, Failure to thri...	ORPHA:90674
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Di...	OMIM:615895
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Bone marrow hypocellularity	OMIM:613987
Combined Immunodeficiency-Enteropathy Spectrum	Abnormal ductus choledochus morphology, Hypoplasia of the thymus, Hepatitis, Peritoneal abscess	ORPHA:436252
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia	OMIM:602579
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:618495
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Hyperammonemia...	ORPHA:391428
Legionnaires Disease	Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Myocarditis, Endocard...	ORPHA:549
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Immunodeficiency, Common Variable, 1	Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:607594
Mogs-Cdg	Atrial septal defect, Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly...	ORPHA:79330
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Follicular hyperplasia	OMIM:619846
Indolent Systemic Mastocytosis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:98848
Metachromatic Leukodystrophy, Adult Form	Cholecystitis, Neoplasm of the gallbladder	ORPHA:309271
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Rhabdoid Tumor	Hematuria, Hypercalcemia, Lymphadenopathy	ORPHA:69077
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal c...	OMIM:620306
Thyroid Lymphoma	Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly	ORPHA:99931
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc...	OMIM:130650
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Hyperinsulinemia	OMIM:613327
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial effu...	ORPHA:36412
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H...	ORPHA:90041
Immunodeficiency 105	Absence of lymph node germinal center, Hepatosplenomegaly	OMIM:619924
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder	ORPHA:3186
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism	ORPHA:163979
Williams Syndrome	Cryptorchidism, Cholelithiasis, Polycystic ovaries	ORPHA:904
Omenn Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the thymus, Hypoproteinemia	OMIM:603554
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ...	OMIM:176270
H Syndrome	Hypertriglyceridemia, Diabetes mellitus, Hepatosplenomegaly, Lymphadenopathy, Azoospermia, Hypogo...	ORPHA:168569
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Xanthelasma, Steatorrhea...	ORPHA:275761
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy	ORPHA:363618
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Impotence	OMIM:268800
Primary Biliary Cholangitis	Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Abnormal intrahepatic bile duct morp...	ORPHA:186
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hepatomegaly, Follicular hyperplasia	OMIM:614470
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lympha...	OMIM:603909
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Lesch-Nyhan Syndrome	Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Testicular atrophy	OMIM:300322
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S...	OMIM:603553
Lymphoproliferative Syndrome 2	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:615122
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy, Ovarian neoplasm	ORPHA:2221
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder	OMIM:617925
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Liver Disease, Severe Congenital	Elevated hepatic transaminase, Hepatomegaly, Biliary hyperplasia, Intrahepatic cholestasis, Jaund...	OMIM:619991
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Abnormal circulating li...	ORPHA:381
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Elevated c...	OMIM:614921
Scrub Typhus	Myocarditis, Splenomegaly, Renal insufficiency, Lymphadenopathy	ORPHA:83317
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Lymphadenopathy	OMIM:150550
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Nephrotic syndrome, Hepatosplenom...	ORPHA:911
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Elevated circulating calcitonin c...	ORPHA:1332
Immunodeficiency 7	Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:615387
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, L...	OMIM:602450
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Trisomy 10P	Absent gallbladder	ORPHA:171929
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Small intestine carcinoid, Abno...	ORPHA:100093
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Omenn Syndrome	Hepatomegaly, Splenomegaly, Thyroiditis, Lymphadenopathy, Nephrotic syndrome, Hypothyroidism	ORPHA:39041
Pancreatoblastoma	Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology	ORPHA:677
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L...	ORPHA:540
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Pineal c...	ORPHA:98908
Vacterl/Vater Association	Cryptorchidism, Abnormality of the gallbladder, Abnormality of the pancreas	ORPHA:887
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri...	ORPHA:308552
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Cryptorchidism, Splenomegal...	OMIM:249000
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm, Carcinoid tumor	ORPHA:100084
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly, Nephroti...	OMIM:618935
Bardet-Biedl Syndrome 20	Hypercholesterolemia, Obesity	OMIM:619471
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Mediastinal lym...	OMIM:619802
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Pancreatic hypoplasia, Biliary atresia	OMIM:600001
Deafness-Lymphedema-Leukemia Syndrome	Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:3226
Rett Syndrome	Cholecystitis	ORPHA:778
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, ...	ORPHA:268
Papa Syndrome	Type I diabetes mellitus, Proteinuria, Lymphadenopathy	ORPHA:69126
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619534
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy	OMIM:618165
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Acute Interstitial Pneumonia	Pericardial effusion, Elevated circulating creatinine concentration, Elevated circulating C-react...	ORPHA:79126
Autoimmune Lymphoproliferative Syndrome	Splenomegaly, Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia	OMIM:601859
Metachromatic Leukodystrophy, Late Infantile Form	Cholecystitis	ORPHA:309256
Cinca Syndrome	Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:1451
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Impotence, Urinary incontinence, Cardiomegaly	OMIM:105210
Proteasome-Associated Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:618048
Mevalonic Aciduria	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	OMIM:610377
Metachromatic Leukodystrophy, Juvenile Form	Cholecystitis	ORPHA:309263
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Neoplasm of the gallbla...	ORPHA:733
Leprechaunism	Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increased circu...	ORPHA:508
Lipodystrophy, Congenital Generalized, Type 1	Insulin-resistant diabetes mellitus at puberty, Diabetes mellitus, Hyperinsulinemia, Decreased se...	OMIM:608594
Anaplastic Thyroid Carcinoma	Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy, Goiter	ORPHA:142
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Abnorma...	ORPHA:781
Poems Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Pericardial effusion, Primary adrenal ins...	ORPHA:2905
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Niemann-Pick Disease, Type A	Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:257200
Immunodeficiency 47	Hypercholesterolemia, Failure to thrive, Decreased circulating copper concentration	OMIM:300972
Sézary Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:3162
Mixed Connective Tissue Disease	Hepatomegaly, Pericarditis, Splenomegaly, Myocarditis, Mediastinal lymphadenopathy, Lymphadenopat...	ORPHA:809
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Lymp...	ORPHA:32960
Boutonneuse Fever	Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Felty Syndrome	Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:47612
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p...	ORPHA:449395
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Zttk Syndrome	Absent gallbladder	OMIM:617140
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia, Failure t...	ORPHA:79259
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca...	OMIM:309000
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, In...	ORPHA:100080
Atypical Werner Syndrome	Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus...	ORPHA:79474
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder	ORPHA:96176
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Myocarditis, Thyroiditis, Lymphadenopathy, Tubulointerstitial nephritis, Nep...	ORPHA:139402
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Lipodystrophy, Congenital Generalized, Type 2	Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Type II diabetes mellitus, Decr...	OMIM:269700
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphology, Atypical scarrin...	ORPHA:534
Malakoplakia	Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Abnormality of the menstrual cycle, Urina...	ORPHA:556
Primary Myelofibrosis	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:824
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Neph...	ORPHA:29073
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Type I diabetes mellitus	OMIM:301078
Nephroblastoma	Hematuria, Lymphadenopathy	ORPHA:654
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Pericardial effusion, Lymphadenopathy, Hematuria, N...	ORPHA:93552
Tetrasomy 9P	Absent gallbladder, Jaundice, Biliary atresia, Cryptorchidism	ORPHA:3310
Bronchial Neuroendocrine Tumor	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Elevated circulating growth hormone conce...	ORPHA:97287
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Ovarian cyst, Precocious pu...	OMIM:175200
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hyperthyroidism, Abnormality of the endocrine system, Splenomegaly, Abnormal blood ion concentrat...	ORPHA:37042
Familial Mediterranean Fever	Pericarditis, Proteinuria, Orchitis, Splenomegaly, Lymphadenopathy, Nephrocalcinosis, Nephrotic s...	ORPHA:342
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,...	ORPHA:50918
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cryptorchidism, Cardiomegaly	OMIM:618143
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy	ORPHA:79456
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Nephropathy, Hypothyroidism, Hepatomeg...	ORPHA:116
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Liver abscess, Cholangitis, Cholecystitis	ORPHA:183675
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:616100
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly	OMIM:619259
Solitary Fibrous Tumor	Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia	ORPHA:2126
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, In...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, In...	ORPHA:100082
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Splenomegaly, Thyroiditis, Lymphadenopathy, Type I diabetes mellitus	ORPHA:436159
Immunodeficiency 10	Lymphadenopathy	OMIM:612783
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Thyroiditis, Lymphadenopathy, Hepatosplenomegaly, Type I diabetes mellitus, Hyp...	OMIM:606367
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Lymphangioleiomyomatosis	Abnormal urinary color, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, H...	ORPHA:538
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab...	ORPHA:3384
Aggressive Systemic Mastocytosis	Hypersplenism, Lymphadenopathy, Hepatosplenomegaly	ORPHA:98850
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:608013
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegaly, Decreased LDL cholesterol co...	ORPHA:14
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:169090
Gamma-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:100026
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Splenomegaly, Pr...	OMIM:619418
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Hypothyroidism, Glomerulonephritis, Lymphadenopathy	OMIM:304790
Klatskin Tumor	Hepatomegaly, Lymphadenopathy	ORPHA:99978
Cyclic Neutropenia	Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy	ORPHA:2686
Brucellosis	Hepatomegaly, Pericarditis, Glomerulonephritis, Elevated circulating C-reactive protein concentra...	ORPHA:1304
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Immunodeficiency, Common Variable, 8, With Autoimmunity	Generalized lymphadenopathy, Splenomegaly, Thyroiditis, Lymphadenopathy, Type I diabetes mellitus...	OMIM:614700
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Lymphadenopathy	OMIM:617591
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Ogden Syndrome	Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Maternal diabetes, Car...	OMIM:300855
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating alpha-fetoprotein conce...	ORPHA:100085
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria	OMIM:230000
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Heparan sulfate excretion in urine, Recurr...	ORPHA:581
Alagille Syndrome 1	Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia	OMIM:118450
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy	ORPHA:343
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Hepatomegaly, Enlarged tonsils, Absence of lymph node germinal center	OMIM:308230
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula...	OMIM:245600
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphadenopathy, Hepatosplenomegaly	ORPHA:169154
Hennekam Syndrome	Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney,...	ORPHA:2136
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Turner Syndrome Due To Structural X Chromosome Anomalies	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99413
Turner Syndrome	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:881
Mosaic Monosomy X	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99228
Monosomy X	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99226
Listeriosis	Liver abscess, Jaundice, Peritonitis, Hepatic granulomatosis, Cholecystitis, Splenic abscess	ORPHA:533
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder	ORPHA:500150
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Dilated cardio...	OMIM:615688
Hyper-Igd Syndrome	Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Renal angiomyolipoma, Elevated ...	OMIM:260920
Acute Promyelocytic Leukemia	Hematuria, Metrorrhagia, Lymphadenopathy	ORPHA:520
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu...	OMIM:252500
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:617099
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Absence of lymph node germinal center, Hepatosplenomegaly, Urinary retention, Inapp...	ORPHA:79124
Kawasaki Disease	Jaundice, Hepatitis, Cholecystitis	ORPHA:2331
Peters-Plus Syndrome	Cryptorchidism, Biliary tract abnormality, Bilobate gallbladder	OMIM:261540
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Diabetes mellitus, Lymphadenopathy, Hepatosplenomegaly, Ovarian carcinoma	ORPHA:1333
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Elevated circulating...	OMIM:256040
Graft Versus Host Disease	Lymphadenopathy, Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:39812
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Adrenocortical adenoma, Pheochromocytoma, Paragangl...	ORPHA:139411
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru...	OMIM:618278
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Mitral valve prolapse, Hilar lymph node enlargement, R...	OMIM:620233
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentr...	ORPHA:167
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, In...	ORPHA:100075
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries	ORPHA:137675
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy	ORPHA:3063
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Lymphadenopathy, Small intestine carcinoid, Pulmonic stenosis, Increased seru...	ORPHA:100078
Marburg Hemorrhagic Fever	Pericarditis, Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamyla...	ORPHA:99826
Coccidioidomycosis	Abnormal sperm morphology, Pericarditis, Renal insufficiency, Abnormality of the endocrine system...	ORPHA:228123
Neurofibroma	Enlargement of parotid gland, Abnormal biliary tract morphology	ORPHA:252183
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Abnormality of the thyroid gland, Prostatitis, Enlarged lacrimal glands, Abn...	ORPHA:449432
Waldenström Macroglobulinemia	Splenomegaly, Hepatomegaly, Renal insufficiency, Lymphadenopathy	ORPHA:33226
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Thyroiditis, Lymphadenopathy, Hypocalcemic tetany, Hypothyroidism	ORPHA:83471
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Cervical neoplasm, Elevated urinary catecholamine level, Hypercal...	ORPHA:653
Behçet Disease	Pericarditis, Renal insufficiency, Orchitis, Splenomegaly, Endocarditis, Lymphadenopathy, Abnorma...	ORPHA:117
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Splenomegaly, Hepatomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Splenomegaly, Hepatomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233710
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri...	ORPHA:365
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Renal insufficiency, Premature ovarian insufficiency, Chronic noninfectious lymphad...	ORPHA:3261
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Splenomegaly, Hepatomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233690
Wolf-Hirschhorn Syndrome	Cryptorchidism, Abnormality of the gallbladder, Abdominal situs inversus	ORPHA:280
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Proteinuria, Elevated circulating creatine kinase concentration, Orchitis, Pericard...	ORPHA:99827
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus	OMIM:619480
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:617718
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Ovarian neoplasm, Adreno...	ORPHA:100079
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Smith-Lemli-Opitz Syndrome	Cryptorchidism, Abnormality of the gallbladder	ORPHA:818
Farber Disease	Lymphadenopathy, Hepatosplenomegaly	ORPHA:333
Yunis-Varon Syndrome	Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ...	ORPHA:3472
Igg4-Related Ophthalmic Disease	Elevated circulating C-reactive protein concentration, Orchitis, Abnormality of the anterior pitu...	ORPHA:449563
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Hypocalcemia, H...	ORPHA:667
Sarcoidosis	Hepatomegaly, Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Abnormal r...	ORPHA:797
Aicardi-Goutières Syndrome	Diabetes mellitus, Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis, Hyp...	ORPHA:51
Chediak-Higashi Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:214500
Immunodeficiency 31C	Hepatomegaly, Diabetes mellitus, Splenomegaly, Lymphadenopathy, Delayed puberty, Hypothyroidism	OMIM:614162
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Cervic...	OMIM:619573
Systemic Mastocytosis With Associated Hematologic Neoplasm	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:98849
Malt Lymphoma	Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Aregenerative Anemia	Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Spondyloenchondrodysplasia With Immune Dysregulation	Tubulointerstitial fibrosis, Hypothyroidism, Lymphadenopathy	OMIM:607944
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Lymphadenopathy	ORPHA:293173
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Granulomatous Disease, Chronic, X-Linked	Splenomegaly, Hepatomegaly, Lymphadenitis, Lymphadenopathy	OMIM:306400
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Selective Igm Deficiency	Lymphadenitis, Thyroid carcinoma, Hashimoto thyroiditis, Lymphadenopathy	ORPHA:331235
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Splenomegaly, Lymp...	OMIM:619381
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Mediastinal lympha...	OMIM:181000
African Trypanosomiasis	Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Abnormality of the menstru...	ORPHA:3385
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Common Variable Immunodeficiency	Splenomegaly, Lymphadenopathy	ORPHA:1572
Leptospirosis	Hepatomegaly, Pericarditis, Cellular urinary casts, Lymphadenopathy, Hyperproteinemia, Acute kidn...	ORPHA:509
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Adrenal calcification, Cardiomegaly, Pericardial effu...	ORPHA:51608
Blau Syndrome	Pericarditis, Splenomegaly, Stage 5 chronic kidney disease, Lymphadenopathy, Nephropathy, Abnorma...	ORPHA:90340
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, Tubulointer...	ORPHA:79078
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly	ORPHA:85408
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Hypoplastic nipples	ORPHA:480880
Primary Sjögren Syndrome	Renal insufficiency, Glomerulonephritis, Thyroiditis, Lymphadenopathy, Tubulointerstitial nephrit...	ORPHA:289390
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria	ORPHA:536
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Alström Syndrome	Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado...	ORPHA:64
Pmm2-Cdg	Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista...	ORPHA:79318
Leukocyte Adhesion Deficiency	Hyperinsulinemic hypoglycemia	ORPHA:2968
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250

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 Gpbar1

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 Gpbar1.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Gut microbial fatty acid isomerization modulates intraepithelial T cells.	Nature (June 2023)	Gpbar1^{tm1.1(KOMP)Vlcg}	37380774
GPCR19 Regulates P2X7R-Mediated NLRP3 Inflammasomal Activation of Microglia by Amyloid β in a Mouse Model of Alzheimer's Disease.	Frontiers in immunology (April 2022)	Gpbar1^{tm1(KOMP)Vlcg}	PMC9019633
Compound 18 Improves Glucose Tolerance in a Hepatocyte TGR5-dependent Manner in Mice.	Nutrients (July 2020)	Gpbar1^{tm1(KOMP)Vlcg}	PMC7400836
Microbial bile acid metabolites modulate gut RORγ+ regulatory T cell homeostasis.	Nature (December 2019)	Gpbar1^{tm1(KOMP)Vlcg}	PMC7274525
Taurodeoxycholate Increases the Number of Myeloid-Derived Suppressor Cells That Ameliorate Sepsis in Mice.	Frontiers in Immunology (September 2018)	Gpbar1^{tm1(KOMP)Vlcg}	PMC6153344
Temporal Regulation of the Bacterial Metabolite Deoxycholate during Colonic Repair Is Critical for Crypt Regeneration.	Cell host & microbe (August 2018)	Gpbar1^{tm1(KOMP)Vlcg}	30122655
Bile Acids Control Inflammation and Metabolic Disorder through Inhibition of NLRP3 Inflammasome.	Immunity (September 2016)	Gpbar1^{tm1(KOMP)Vlcg}	27692610

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MGI Allele	Allele Type	Produced
Gpbar1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Gpbar1^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue
Gpbar1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Gpbar1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Gpbar1 MGI:2653863

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Adult LacZ

X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Gpbar1 mutations

Histopathology

IMPC related publications

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