Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Amfr MGI:1345634

Gene Summary

Name:

autocrine motility factor receptor

Synonyms:

gp78

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased lactate dehydrogenase level	Amfr^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.31×10^-06
abnormal behavior	Amfr^{tm1a(KOMP)Wtsi}	HET	Early adult	1.03×10^-05
abnormal behavior	Amfr^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.89×10^-05
decreased circulating alanine transaminase level	Amfr^{tm1a(KOMP)Wtsi}	HOM	Early adult	9.01×10^-07
decreased circulating total protein level	Amfr^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.82×10^-07
increased bone mineral density	Amfr^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.46×10^-05
decreased circulating cholesterol level	Amfr^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.23×10^-06
decreased locomotor activity	Amfr^{tm1a(KOMP)Wtsi}	HET	Early adult	2.41×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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
Adrenal gland	N/A	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	50% (1 of 2)
Bone	N/A	heterozygote	100% (2 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	50% (1 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	100% (2 of 2)
Gall bladder	N/A	heterozygote	50% (1 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	50% (1 of 2)
Lower urinary tract	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	100% (2 of 2)
Esophagus	N/A	heterozygote	100% (2 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	100% (2 of 2)
Parathyroid gland	N/A	heterozygote	50% (1 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	Not available
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	100% (2 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	50% (1 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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	0.67% (4 of 598)
aorta	0.17% (1 of 598)
blood vessel	0.0%
bone	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
eye	0.0%
gall bladder	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
oesophagus	0.0%
olfactory lobe	0.33% (2 of 598)
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
parathyroid gland	0.17% (1 of 576)
peripheral nervous system	0.33% (2 of 598)
peyer's patch	0.57% (1 of 176)
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle tissue	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
uterus	0.33% (2 of 598)
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

Amfr^{tm1a(KOMP)Wtsi}
head, HET, Female, WTSI

Amfr^{tm1a(KOMP)Wtsi}
body, HET, Female, WTSI

Amfr^{tm1a(KOMP)Wtsi}
head, HET, Female, WTSI

View all 166 images

Amfr^{tm1a(KOMP)Wtsi}
back skin, HOM, Female, WTSI

Amfr^{tm1a(KOMP)Wtsi}
back skin, HET, Female, WTSI

Amfr^{tm1a(KOMP)Wtsi}
eye, abnormal retinal pigmentation, HOM, Female, WTSI

Human diseases caused by Amfr 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 Amfr (0 diseases)
Human diseases predicted to be associated with Amfr (956 diseases)

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

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

Disease	Matching phenotypes	Source
Hepatocellular Carcinoma	Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis	OMIM:114550
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Elevated g...	OMIM:614480
Budd-Chiari Syndrome	Cirrhosis, Hepatocellular carcinoma	OMIM:600880
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Halothane Hepatitis	Hepatitis, Viral hepatitis, Jaundice, Obesity	OMIM:234350
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El...	OMIM:615395
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Jaundice, Elevated...	OMIM:619658
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat...	ORPHA:79301
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles...	OMIM:620058
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Sea-Blue Histiocyte Disease	Elevated circulating alanine aminotransferase concentration, Cirrhosis, Splenomegaly, Elevated ci...	OMIM:269600
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Copper accumulation in liver, Cirrhosis	ORPHA:209919
Hemochromatosis Type 4	Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis	ORPHA:139491
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Hepatic fibrosis, Splenomegaly, Cirrhosis	OMIM:271500
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczema	OMIM:176090
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated hepatic transaminase, Erysipelas, Neonatal cholestatic liver diseas...	OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 4	Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Portal hypertension	OMIM:615878
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr...	ORPHA:369
Hemochromatosis, Type 2B	Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly	OMIM:613313
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti...	OMIM:613812
Fadd-Related Immunodeficiency	Decreased liver function, Hepatic fibrosis	ORPHA:306550
Porphyria Cutanea Tarda	Cirrhosis, Hepatocellular carcinoma	OMIM:176100
Benign Recurrent Intrahepatic Cholestasis	Cirrhosis, Weight loss, Jaundice, Pancreatitis, Hepatocellular carcinoma, Elevated hepatic transa...	ORPHA:65682
Hemochromatosis, Neonatal	Hepatic failure, Hepatic fibrosis, Cirrhosis, Hepatocellular necrosis, Cholestasis, Prolonged neo...	OMIM:231100
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Congenital Disorder Of Glycosylation, Type Iio	Elevated alkaline phosphatase of bone origin, Cirrhosis, Hepatic failure, Elevated hepatic transa...	OMIM:616828
Congenital Disorder Of Glycosylation, Type Iir	Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,...	OMIM:301045
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Bronchiectasis, Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly	OMIM:613490
Gallbladder Disease 1	Hepatic fibrosis, Cholesterol gallstones, Jaundice, Pancreatitis, Elevated hepatic transaminase, ...	OMIM:600803
Alpha-1-Antitrypsin Deficiency	Hepatitis, Jaundice, Hepatic failure, Hepatomegaly	ORPHA:60
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Bile Acid Synthesis Defect, Congenital, 5	Hepatic failure, Hepatic fibrosis, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa...	OMIM:616278
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Elevated circulating alanine aminotransferase concentration, Portal inflammation, Hepatic bridgin...	OMIM:613759
African Iron Overload	Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos...	ORPHA:139507
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Hypersplenism, Jaundice, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepa...	OMIM:619902
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Portal hypertension, Hepatic failure, Cirrhosis	OMIM:210050
Biliary Atresia, Extrahepatic	Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Jaundice, Elevated hepatic tra...	OMIM:210500
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros...	OMIM:619662
Wilson Disease	Cirrhosis, Weight loss, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Hepatic st...	ORPHA:905
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Hepatic failure	OMIM:261650
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe...	OMIM:602347
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly	OMIM:616719
Cholestasis, Progressive Familial Intrahepatic, 2	Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Elevated ci...	OMIM:601847
Citrullinemia, Type Ii, Adult-Onset	Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc...	OMIM:603471
Immunodeficiency 56	Hepatic failure, Cirrhosis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Cholangi...	OMIM:615207
Sclerosing Cholangitis, Neonatal	Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ...	OMIM:617394
Bile Acid Synthesis Defect, Congenital, 1	Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic...	OMIM:607765
Retinitis Pigmentosa 89	Hepatic fibrosis, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatosplenomegaly	OMIM:618955
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Congenital hepatic fibrosis	ORPHA:446
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice...	ORPHA:79302
Cholesteryl Ester Storage Disease	Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly	ORPHA:75234
Lysosomal Acid Lipase Deficiency	Low alkaline phosphatase, Elevated circulating alanine aminotransferase concentration, Hepatic fi...	OMIM:278000
Nephronophthisis 19	Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,...	OMIM:616217
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ...	OMIM:619849
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Elevated hepatic transaminase	OMIM:618400
Cholestasis, Progressive Familial Intrahepatic, 6	Periportal fibrosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulatin...	OMIM:619484
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Autosomal Erythropoietic Protoporphyria	Decreased liver function, Cirrhosis, Cholelithiasis, Eczema	ORPHA:79278
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Elevated circulating alkaline phosphat...	OMIM:613489
Congenital Disorder Of Glycosylation, Type Iip	Hepatic steatosis, Elevated circulating alkaline phosphatase concentration, Elevated hepatic tran...	OMIM:616829
Gracile Syndrome	Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration	ORPHA:53693
Hemochromatosis, Type 4	Hepatic steatosis, Cirrhosis, Hepatomegaly, Osteoarthritis	OMIM:606069
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost...	OMIM:241520
Complement Component 4B Deficiency	Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Chronic active hepatitis	OMIM:614379
Pediatric Hepatocellular Carcinoma	Hepatic necrosis, Hepatic fibrosis, Portal vein thrombosis, Hepatomegaly	ORPHA:33402
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Decreased liver function	OMIM:617093
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2	Cirrhosis, Myeloid leukemia, Leukemia	OMIM:614743
Cholestasis-Lymphedema Syndrome	Multiple lipomas, Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal choles...	ORPHA:1414
Autoinflammatory-Pancytopenia Syndrome	Hepatic fibrosis, Chilblains, Membranoproliferative glomerulonephritis, Hepatosplenomegaly, Intes...	OMIM:619858
Axial Osteomalacia	Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia	OMIM:109130
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Splenomegaly, Small for gestat...	ORPHA:567983
Inflammatory Pseudotumor Of The Liver	Abnormal liver sonography, Elevated circulating alanine aminotransferase concentration, Cirrhosis...	ORPHA:90003
Glycogen Storage Disease Ixc	Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera...	OMIM:613027
Coach Syndrome 2	Hepatic fibrosis, Elevated hepatic transaminase, Portal fibrosis, Congenital hepatic fibrosis	OMIM:619111
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Interstitial Lung Disease 2	Cirrhosis, Alveolar cell carcinoma	OMIM:178500
Hemochromatosis, Type 2A	Arthritis, Cirrhosis, Splenomegaly, Hepatomegaly	OMIM:602390
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatic fibrosis	ORPHA:280356
Glycogen Storage Disease Vi	Increased hepatic glycogen content, Failure to thrive in infancy, Elevated hepatic transaminase, ...	OMIM:232700
Nphp3-Related Meckel-Like Syndrome	Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology	ORPHA:3032
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Elevated he...	OMIM:616860
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Splenomegaly, Jaundice, Failure to thrive, Hepatomegaly, Intrahepatic cholestasis with...	OMIM:211600
Budd-Chiari Syndrome	Cirrhosis, Weight loss, Jaundice, Peritonitis, Elevated hepatic transaminase, Cholecystitis, Hepa...	ORPHA:131
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Hepatic fibrosis, Obesity, Cholestasis	OMIM:616629
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Obesi...	ORPHA:209902
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Hepatic fibrosis, Acute hepatic failure, Hepatosplenomegaly	ORPHA:466794
Trichohepatoenteric Syndrome 2	Cirrhosis, Small for gestational age, Failure to thrive, Colitis, Hepatomegaly, Chronic hepatitis	OMIM:614602
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Splenomegaly, Recurrent otitis media	ORPHA:444463
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated hepatic transaminase, Hepatomegaly	OMIM:232400
Lymphoproliferative Syndrome, X-Linked, 2	Folliculitis, Hepatitis, Erythema nodosum, Inflammation of the large intestine, Colitis, Hepatome...	OMIM:300635
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Autoimmune Hepatitis	Cirrhosis, Fulminant hepatitis, Arthritis, Sclerosing cholangitis, Diffuse hepatic steatosis, Ele...	ORPHA:2137
Bile Acid Malabsorption, Primary, 2	Elevated circulating alanine aminotransferase concentration, Periportal fibrosis, Elevated circul...	OMIM:619481
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Isolated Biliary Atresia	Atretic gallbladder, Cirrhosis, Periportal fibrosis, Small for gestational age, Jaundice, Elevate...	ORPHA:30391
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise	ORPHA:206599
Galactosemia I	Elevated circulating alanine aminotransferase concentration, Cirrhosis, Elevated circulating aspa...	OMIM:230400
Mpi-Cdg	Hepatic fibrosis, Abnormal circulating enzyme concentration or activity, Failure to thrive, Hepat...	ORPHA:79319
Congenital Macroglossia	Neurofibromas, Abnormal hepatic glycogen storage	ORPHA:2430
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H...	OMIM:246700
Neutral Lipid Storage Disease With Myopathy	Hepatic steatosis, Elevated hepatic transaminase, Increased muscle lipid content, Hepatomegaly	OMIM:610717
Morbid Obesity And Spermatogenic Failure	Hepatic steatosis, Obesity	OMIM:615703
Hemochromatosis, Type 3	Arthritis, Cirrhosis, Elevated hepatic transaminase	OMIM:604250
Glycogen Storage Disease Iv	Hepatic failure, Cirrhosis, Hepatosplenomegaly, Failure to thrive, Portal hypertension	OMIM:232500
Caroli Disease	Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Biliary cirrhosis,...	ORPHA:53035
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Cholestasis, Progressive Familial Intrahepatic, 5	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice...	OMIM:617049
Low Phospholipid-Associated Cholelithiasis	Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c...	ORPHA:69663
Cirrhosis, Familial	Cirrhosis, Biliary cirrhosis, Fulminant hepatitis, Jaundice, Micronodular cirrhosis	OMIM:215600
Rotor Syndrome	Intermittent jaundice, Storage in hepatocytes, Jaundice, Abnormal circulating enzyme concentratio...	ORPHA:3111
Citrullinemia, Type Ii, Neonatal-Onset	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ci...	OMIM:605814
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Cog4-Cdg	Cirrhosis, Elevated hepatic transaminase, Hepatosplenomegaly, Elevated circulating alkaline phosp...	ORPHA:263501
Meckel Syndrome, Type 3	Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly	OMIM:607361
Bardet-Biedl Syndrome 19	Hepatic steatosis, Obesity	OMIM:615996
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Nephronophthisis 15	Obesity, Elevated hepatic transaminase	OMIM:614845
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age, Hepatomegaly	ORPHA:2432
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:619048
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic failure, Hepatic fibrosis, Cholestasis, Hepatomegaly, Obesity, Splenomegaly	OMIM:615630
Congenital Disorder Of Glycosylation, Type Ib	Hepatic failure, Hepatic fibrosis, Cirrhosis, Failure to thrive, Hepatomegaly	OMIM:602579
Isolated Osteopoikilosis	Tarsal sclerosis, Abnormal bone ossification, Increased bone mineral density, Sclerosis of foot b...	ORPHA:166119
Transaldolase Deficiency	Cirrhosis, Hepatosplenomegaly	ORPHA:101028
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis	ORPHA:436182
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Jaundice, Elevated hepatic transaminase, Abnormal circulating enzyme concentrati...	ORPHA:79303
Laurence-Moon Syndrome	Obesity, Congenital hepatic fibrosis	ORPHA:2377
Infantile Liver Failure Syndrome 3	Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi...	OMIM:618641
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Hemochromatosis Type 2	Abnormality of endocrine pancreas physiology, Elevated hepatic transaminase, Congenital hepatic f...	ORPHA:79230
Transaldolase Deficiency	Hepatic fibrosis, Cirrhosis, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Mi...	OMIM:606003
Bile Acid Synthesis Defect, Congenital, 4	Hepatic failure, Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase c...	OMIM:214950
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Fulminant hepatitis, Jaundice, Elevated hepatic transaminase, Hashimoto thyroidi...	OMIM:618549
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Cirrhosis, Abnormal muscle glycogen content, Elevated hepatic transaminase, Hepa...	ORPHA:367
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Immunodeficiency 43	Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia	OMIM:241600
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr...	ORPHA:370
Interstitial Lung And Liver Disease	Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cirrhosis, Hepatic...	OMIM:615486
Senior-Loken Syndrome	Congenital hepatic fibrosis	ORPHA:3156
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis, Elevated circulating alanine aminotransferase concentration, Elevat...	OMIM:614582
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Truncal obesity	OMIM:240900
Congenital Analbuminemia	Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia	ORPHA:86816
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Pancreatitis, Hepatomegaly	ORPHA:79084
Galactosemia	Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Abnormal erythrocyte enzyme ...	ORPHA:352
Infantile Liver Failure Syndrome 1	Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomegaly, Acute hepatic ...	OMIM:615438
Combined Oxidative Phosphorylation Deficiency 34	Hepatic steatosis, Failure to thrive, Hepatic failure, Hepatomegaly	OMIM:617872
Melorheostosis With Osteopoikilosis	Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Hepatic Veno-Occlusive Disease	Jaundice, Elevated hepatic transaminase, Hepatomegaly, Increased body weight	ORPHA:890
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Cirrhosis, Increased body weight, Elevated hepatic transaminase, Abnormal eryth...	ORPHA:264580
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co...	OMIM:267700
Refractory Celiac Disease	Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Osteoporosis, Hypoalbuminemia	ORPHA:398063
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Elevated hepat...	ORPHA:562639
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Joubert Syndrome 9	Hepatic fibrosis	OMIM:612285
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatic steatosis, Cirrhosis, Hepatomegaly	ORPHA:363400
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Childhood-onset truncal obesity, Obesity, Cholestasis	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Childhood-onset truncal obesity, Obesity, Cholestasis	ORPHA:71526
Hypermanganesemia With Dystonia 1	Decreased liver function, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly	OMIM:613280
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Osteopenia	OMIM:610539
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Periportal fibrosis, Hepatic lobular inflammation, Elevated ...	ORPHA:101330
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Large for gestational age, Pancreatic islet-cell hyperplasia	OMIM:601820
Hyperostosis Corticalis Generalisata	Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis	ORPHA:3416
Adams-Oliver Syndrome 6	Portal hypertension, Hepatic fibrosis, Splenomegaly	OMIM:616589
Flynn-Aird Syndrome	Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste...	OMIM:136300
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Elevated...	ORPHA:64743
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Increased hepatic glycogen content, Large for gestational age, Truncal obesity	ORPHA:293964
Triokinase And Fmn Cyclase Deficiency Syndrome	Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Hepatomegaly, Fai...	OMIM:618805
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ...	OMIM:251880
Short Chain Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis, Failure to thrive	ORPHA:26792
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Conjunctivitis, Cirrhosis, Elevated hepatic transaminase, Elevated gamma-glutamyltransferase leve...	OMIM:242150
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Macronodular cirrhosis	OMIM:215250
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1	Cirrhosis, Myeloid leukemia, Myelodysplasia	OMIM:614742
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Peroxisomal Acyl-Coa Oxidase Deficiency	Very long chain fatty acid accumulation, Diffuse hepatic steatosis, Elevated hepatic transaminase...	OMIM:264470
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia	OMIM:256450
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice...	OMIM:607626
Citrullinemia Type Ii	Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H...	ORPHA:247585
Caroli Syndrome	Cirrhosis, Hepatic failure, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundice, Cholangi...	ORPHA:480520
Nephronophthisis 16	Periportal fibrosis, Cholestasis	OMIM:615382
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Autosomal Agammaglobulinemia	Conjunctivitis, Osteomyelitis, Bronchiectasis, Hepatitis, Skin rash, Arthritis, Failure to thrive...	ORPHA:33110
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Membranoproliferative glomerulonephritis	OMIM:608709
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Osteochondrosis Of The Metatarsal Bone	Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones	ORPHA:564003
Carcinoma Of Esophagus	Esophageal neoplasm, Obesity, Barrett esophagus, Weight loss	ORPHA:70482
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Weight loss, Cachexia, Elevated hepatic transaminase, Macrovesicular hepatic steatosis	ORPHA:298
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Asplenia, Cirrhosis, Keratoconjunctivitis, Hepatitis, Chronic mucocutaneous candidiasis,...	OMIM:269200
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Interface hepatitis, Failure to thrive in infancy...	OMIM:611182
Immunodeficiency 47	Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cirrhosis, Elevate...	OMIM:300972
Primary Biliary Cholangitis	Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hepatic failure, Hepatitis, Jaundice, Hepatocellu...	ORPHA:186
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly	OMIM:618234
Hemochromatosis, Type 1	Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly	OMIM:235200
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Microves...	OMIM:256810
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Medullary Thyroid Carcinoma	Neoplasm of the lung, Weight loss, Pheochromocytoma, Medullary thyroid carcinoma, Neoplasm of the...	ORPHA:1332
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Joint stiffness, Knee osteoa...	ORPHA:566943
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Cirrhosis, Chronic oral candidiasis, Hepatitis, Sclerosing cholangitis,...	OMIM:308230
Adenocarcinoma Of The Esophagus	Obesity, Barrett esophagus, Esophageal carcinoma	ORPHA:99976
Acquired Partial Lipodystrophy	Hepatic steatosis	ORPHA:79087
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Cirrhosis	OMIM:604367
Reynolds Syndrome	Cirrhosis, Skin rash, Jaundice, Keratoconjunctivitis sicca, Arthritis, Hepatomegaly, Infectious e...	ORPHA:779
Cholesterol-Ester Transfer Protein Deficiency	Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem...	ORPHA:79506
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis	OMIM:613987
Congenital Generalized Lipodystrophy	Cirrhosis, Hepatic steatosis, Failure to thrive, Hepatomegaly, Proportionate tall stature	ORPHA:528
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity, Elevated hepatic transaminase	ORPHA:329249
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Renal-Hepatic-Pancreatic Dysplasia 1	Pancreatic cysts, Asplenia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Polysplenia, Malforma...	OMIM:208540
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Failure to th...	OMIM:614576
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Melorheostosis	Arthritis, Increased bone mineral density, Joint stiffness, Hyperostosis, Ectopic ossification in...	ORPHA:2485
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia, Flexion contracture	OMIM:608093
Sclerosteosis	Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology	ORPHA:3152
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Hepatic fibrosis, Malformation of the hepatic ductal plate, Cholestasis, Hepatomegaly, ...	OMIM:615415
Intermediate Osteopetrosis	Increased susceptibility to fractures, Osteomyelitis, Recurrent fractures, Hypocalcemia, Generali...	ORPHA:210110
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Hepatitis, Hepatosplenomegaly, Recurrent pneumonia, Otitis media, Failu...	ORPHA:169160
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Abnormal ci...	ORPHA:79240
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Splenomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:612526
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Coach Syndrome 1	Hepatic fibrosis, Cirrhosis, Intrahepatic bile duct dilatation, Elevated hepatic transaminase, He...	OMIM:216360
X-Linked Agammaglobulinemia	Conjunctivitis, Osteomyelitis, Weight loss, Hepatitis, Skin rash, Arthritis, Failure to thrive, R...	ORPHA:47
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Microvesicular hepatic steatosis, Weight loss, Portal fibrosis, Failure to thri...	OMIM:619377
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hepatic failure, Microvesicular hepatic steatosis, Cirrhosis, Jaundice, Elevated hepatic transami...	OMIM:617156
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Obesity, Abnormal circulating enzyme concentration or activity	ORPHA:171706
Primary Lipodystrophy	Hepatic steatosis, Cirrhosis, Pancreatitis, Splenomegaly	ORPHA:90970
Bardet-Biedl Syndrome	Hepatic fibrosis, Obesity	ORPHA:110
Beta-Thalassemia Intermedia	Cirrhosis, Splenomegaly, Abnormality of the liver, Jaundice, Hepatocellular carcinoma, Hepatosple...	ORPHA:231222
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Cirrhosis, Hepatitis, Hypersplenism, Thyroiditis, Cholangitis, Hepatosplenomegaly, Portal hyperte...	ORPHA:228426
Lipodystrophy, Familial Partial, Type 6	Hepatic steatosis, Abdominal obesity	OMIM:615980
Primary Sclerosing Cholangitis	Elevated alkaline phosphatase of hepatic origin, Cholangiocarcinoma, Elevated hepatic transaminas...	ORPHA:171
Combined Oxidative Phosphorylation Deficiency 52	Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Pancreatitis, Ele...	OMIM:619386
Beta-Thalassemia	Hepatitis, Splenomegaly, Cholelithiasis, Hepatomegaly	ORPHA:848
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ...	ORPHA:26793
Combined Oxidative Phosphorylation Deficiency 19	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El...	OMIM:615595
Narcolepsy Type 1	Obesity	ORPHA:2073
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic failure, Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste...	ORPHA:541423
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In...	OMIM:144250
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat...	OMIM:603553
Symptomatic Form Of Hemochromatosis Type 1	Cirrhosis, Weight loss, Arthritis, Cholangiocarcinoma, Hepatocellular carcinoma, Chronic hepatic ...	ORPHA:465508
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Increased circulating lactate dehydrogenase concentration, Elevated hepatic transaminase, Macrove...	OMIM:600649
Dpm1-Cdg	Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Failure t...	ORPHA:79322
Senior-Boichis Syndrome	Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Malformation of the hepatic ductal pl...	ORPHA:84081
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Increased intramyocellular lipid droplets, Hepatic steatosis, Micr...	ORPHA:98907
Peroxisome Biogenesis Disorder 1B	Hepatic fibrosis, Hepatomegaly, Cirrhosis	OMIM:601539
Drug Reaction With Eosinophilia And Systemic Symptoms	Tubulointerstitial nephritis, Myocarditis, Weight loss, Hepatitis, Skin rash, Thyroiditis, Inters...	ORPHA:139402
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Splenomegaly, Hepatic steatosis, Hepatomegaly, Pancreatitis	ORPHA:79083
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Dengue Fever	Hypoproteinemia	ORPHA:99828
Ddost-Cdg	Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase	ORPHA:300536
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Acquired Generalized Lipodystrophy	Lymphoma, Cirrhosis, Astrocytoma, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Panniculitis	ORPHA:79086
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis	OMIM:607634
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis	OMIM:613877
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra...	OMIM:616834
Bardet-Biedl Syndrome 21	Obesity, Elevated hepatic transaminase, Overweight	OMIM:617406
Bare Lymphocyte Syndrome, Type Ii	Biliary tract abnormality, Cholangitis, Viral hepatitis, Failure to thrive, Chronic mucocutaneous...	OMIM:209920
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Failure to thrive, Acute hepatitis, Hepatomegaly	OMIM:238970
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Jaundice, Elevated hepatic transaminase, Failure to thrive, Giant cell hepatitis, Hepatomegaly, C...	OMIM:613404
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Macrophage Activation Syndrome	Elevated circulating alanine aminotransferase concentration, Increased circulating lactate dehydr...	ORPHA:158061
Lichen Planopilaris	Hepatitis, Neoplasm of the oral cavity	ORPHA:525
Adult-Onset Still Disease	Hepatitis, Skin rash, Arthritis, Elevated hepatic transaminase, Pericarditis, Hepatomegaly, Myoca...	ORPHA:829
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Splenomegaly, Hepatitis, Jaundice, Hepatomegaly, Cholelithiasis	OMIM:194380
Macrosomia Adiposa Congenita	Obesity, Large for gestational age, Adrenocortical adenoma	OMIM:248100
Mednik Syndrome	Hepatic fibrosis, Cholestasis, Cirrhosis	OMIM:609313
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures	OMIM:166740
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Glycogen Storage Disease Ixb	Increased hepatic glycogen content, Increased muscle glycogen content, Splenomegaly, Hepatomegaly	OMIM:261750
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Hepatocellular necrosis, Necrotizing enterocolitis, Hepatic steatosis, Hepat...	OMIM:201475
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Elevated circulating alanine aminotransferase concentration, Increased hepatic e...	OMIM:261680
Adrenomyodystrophy	Hepatic steatosis, Failure to thrive	ORPHA:977
Primary Intestinal Lymphangiectasia	Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia	ORPHA:90362
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity	OMIM:309585
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hepatic steatosis, Failure to thrive, Decreased liver function, Abnormal circulating enzyme conce...	ORPHA:70472
Bardet-Biedl Syndrome 10	Obesity	OMIM:615987
Dominant Beta-Thalassemia	Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Hepatocellular carcinoma, Hepatosplenomegal...	ORPHA:231226
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cirrhosis, Microvesicular hepatic steatosis, Splenomegaly, Polysplenia, Hepatic steatosis, Failur...	OMIM:619418
Melioidosis	Septic arthritis, Prostatitis, Hepatitis, Liver abscess, Osteoarthritis, Cutaneous abscess, Foot ...	ORPHA:31202
Craniodiaphyseal Dysplasia, Autosomal Dominant	Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis	OMIM:122860
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation	OMIM:610688
Peroxisome Biogenesis Disorder 3B	Hypocholesterolemia, Steatorrhea, Osteoporosis, Elevated circulating phytanic acid concentration	OMIM:266510
Dysplastic Cortical Hyperostosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Hepatomegaly, Hepatic cysts, Portal hype...	OMIM:263200
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatic steatosis, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Fulminant h...	OMIM:231530
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenitis, Hepatic fibrosis, Elevated hepatic transaminase, Eczema, Failure to thrive, Inflam...	OMIM:615895
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva...	OMIM:255120
Joubert Syndrome With Hepatic Defect	Intrahepatic biliary atresia, Cirrhosis, Neoplasm of the liver, Elevated hepatic transaminase, Ch...	ORPHA:1454
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating alanine aminotransferase concentration, Portal fibrosis, Hepatic steatosis, ...	OMIM:614300
Hypobetalipoproteinemia, Familial, 1	Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy...	OMIM:615558
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Meckel Syndrome, Type 6	Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Hepatic cysts, Cystic liver disease	OMIM:612284
Immunodeficiency 40	Elevated circulating alanine aminotransferase concentration, Chronic oral candidiasis, Interstiti...	OMIM:616433
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Graft Versus Host Disease	Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Jaundice, Inflammatory ...	ORPHA:39812
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Giant cell ...	ORPHA:79095
Bardet-Biedl Syndrome 5	Obesity	OMIM:615983
Central Precocious Puberty	Increased body weight, Obesity, Overgrowth, Hypothalamic hamartoma, Acne	ORPHA:759
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os...	OMIM:166600
Cryoglobulinemic Vasculitis	Abnormality of the liver, Arthritis, Keratoconjunctivitis sicca, Viral hepatitis, Hepatomegaly, S...	ORPHA:91138
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Weight loss, Chilblains, Elevated hepatic transaminase, Hepatosplenomegaly, Hep...	OMIM:619487
Donohue Syndrome	Hepatic fibrosis, Severe failure to thrive, Cholestasis, Pancreatic islet-cell hyperplasia	OMIM:246200
Syndromic X-Linked Intellectual Disability 7	Obesity	ORPHA:85274
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho...	OMIM:616000
Lipodystrophy, Familial Partial, Type 5	Hepatic steatosis, Hepatomegaly	OMIM:615238
Congenital Disorder Of Glycosylation, Type It	Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated hepatic transami...	OMIM:614921
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Hyperostosis Frontalis Interna	Elevated circulating alkaline phosphatase concentration, Obesity	OMIM:144800
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Obesity, Eczema	ORPHA:3055
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly	OMIM:201450
Carnitine Deficiency, Systemic Primary	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Re...	OMIM:212140
Congenital Isolated Acth Deficiency	Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Citrullinemia, Classic	Failure to thrive, Cirrhosis, Hepatomegaly	OMIM:215700
Intellectual Developmental Disorder, X-Linked 91	Obesity	OMIM:300577
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver functio...	ORPHA:42
Adams-Oliver Syndrome	Cirrhosis, Portal hypertension, Failure to thrive, Congenital hepatic fibrosis	ORPHA:974
Nephronophthisis 3	Hepatic fibrosis	OMIM:604387
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Intrahepatic biliary atresia, Small for gestational age, Jaundice, Elevated hepatic transaminase,...	OMIM:208085
Liver Failure, Infantile, Transient	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ja...	OMIM:613070
Chanarin-Dorfman Syndrome	Hepatic steatosis, Hepatomegaly	OMIM:275630
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Summitt Syndrome	Obesity	OMIM:272350
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity, Osteoarthritis	ORPHA:2206
Johanson-Blizzard Syndrome	Hypoproteinemia	ORPHA:2315
Aceruloplasminemia	Cirrhosis, Hepatic fibrosis, Abnormal circulating enzyme concentration or activity, Elevated hepa...	ORPHA:48818
3-Methylglutaconic Aciduria, Type V	Failure to thrive, Elevated circulating alanine aminotransferase concentration, Microvesicular he...	OMIM:610198
Endosteal Hyperostosis, Autosomal Dominant	Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, Clavicular sclerosis, ...	OMIM:144750
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hypoproteinemia	OMIM:235255
Griscelli Syndrome	Hepatitis, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:381
Squalene Synthase Deficiency	Knee flexion contracture, Decreased LDL cholesterol concentration, Elbow flexion contracture, Ele...	OMIM:618156
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Hepatitis, Splenic cyst, Cholestasis, ...	OMIM:610199
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Arthritis, Eczema, Failure to thrive, Glomerulonephritis, Erythroderma	OMIM:304790
Distal Osteosclerosis	Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis	OMIM:126250
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatic steatosis, Elevated hepatic transaminase, Hepatosplenomegaly	OMIM:619013
Gaucher Disease Type 1	Cirrhosis, Hypersplenism, Biliary tract obstruction, Hepatomegaly, Splenomegaly, Osteoarthritis	ORPHA:77259
Chylomicron Retention Disease	Hepatic steatosis, Failure to thrive, Increased hepatocellular lipid droplets, Elevated hepatic t...	ORPHA:71
Beta-Thalassemia Major	Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Hepatocellular carcinoma, Hepatosplenomegal...	ORPHA:231214
Coronary Artery Disease, Autosomal Dominant, 1	Obesity	OMIM:608320
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
Immunodeficiency 61	Arthritis, Recurrent sinusitis, Recurrent otitis media, Colon cancer, Obesity	OMIM:300310
Autoinflammation, Immune Dysregulation, And Eosinophilia	Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Failure to thrive, Hep...	OMIM:618999
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Reduced carnitine O-palmitoyltransferase level, Hepatic failure, Elevated hepatic transaminase, H...	ORPHA:228305
Subaortic Stenosis-Short Stature Syndrome	Obesity, Biliary tract abnormality, Acne	ORPHA:3191
Bardet-Biedl Syndrome 16	Obesity, Recurrent otitis media	OMIM:615993
Nephronophthisis 11	Hepatic fibrosis	OMIM:613550
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Q Fever	Endocarditis, Myocarditis, Maculopapular exanthema, Abnormality of the liver, Osteomyelitis, Weig...	ORPHA:781
Hardikar Syndrome	Hepatic fibrosis, Cirrhosis, Hepatic failure, Prolonged neonatal jaundice, Hypersplenism, Jaundic...	OMIM:301068
Argininemia	Micronodular cirrhosis, Cholestasis, Hepatomegaly, Portal fibrosis	OMIM:207800
Simpson-Golabi-Behmel Syndrome, Type 2	Obesity	OMIM:300209
Joubert Syndrome 8	Prolonged neonatal jaundice, Obesity, Hepatomegaly	OMIM:612291
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated hepatic ...	OMIM:615381
Isolated Sedoheptulokinase Deficiency	Hepatitis, Portal hypertension, Cholestasis, Cholestatic liver disease	ORPHA:440713
Argininosuccinic Aciduria	Failure to thrive, Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentratio...	OMIM:207900
Wilson Disease	Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Jaundice...	OMIM:277900
Akt2-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatomegaly	ORPHA:79085
Tyrosinemia, Type I	Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatocellular carcinoma, Failure to t...	OMIM:276700
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Microvesicular hepatic steatosis, Weight loss, Hypersplenism, ...	ORPHA:275761
Hernández-Aguirre Negrete Syndrome	Obesity	ORPHA:2139
Hereditary Hemorrhagic Telangiectasia	Cirrhosis, Hepatic failure, Visceral angiomatosis, Intestinal polyposis, Cholecystitis, Cavernous...	ORPHA:774
Farber Disease	Hepatic failure, Hepatic fibrosis, Arthritis, Elevated hepatic transaminase, Abnormal circulating...	ORPHA:333
Syndromic Diarrhea	Cirrhosis, Hepatic fibrosis, Abnormality of the liver, Small for gestational age, Hepatoblastoma,...	ORPHA:84064
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypocalcemia, Hypoproteinemia	ORPHA:1655
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Hepatic failure, Cirrhosis, Abnormality of the pancreas, Small for gestational ...	OMIM:222470
Alstrom Syndrome	Tubulointerstitial nephritis, Chronic active hepatitis, Elevated hepatic transaminase, Nephritis,...	OMIM:203800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Hepatic steatosis, Failure to thrive, Pancreatic fibrosis, Hepatomegaly, Exocri...	OMIM:616263
Aspergillosis	Osteomyelitis, Bronchiectasis, Hepatitis, Sinusitis, Hematological neoplasm, Keratitis, Infectiou...	ORPHA:1163
Osteopetrosis, Autosomal Recessive 1	Osteomyelitis, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral density, Hypocalce...	OMIM:259700
Dyskeratosis Congenita, Autosomal Dominant 1	Cirrhosis, Squamous cell carcinoma of the skin, Myelodysplasia, Hepatic necrosis, Interstitial pn...	OMIM:127550
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular osteomyelit...	ORPHA:53
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Micronodular cirrhosis, Elevated hepatic transaminase	OMIM:192315
Cirrhotic Cardiomyopathy	Jaundice, Hepatomegaly, Cirrhosis	ORPHA:57777
Dyskeratosis Congenita, Autosomal Dominant 2	Failure to thrive, Hepatic fibrosis	OMIM:613989
Autosomal Recessive Polycystic Kidney Disease	Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Jaun...	ORPHA:731
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly	ORPHA:369840
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity	ORPHA:140941
Congenital Enterovirus Infection	Hepatic failure, Hepatitis, Skin rash, Cholestasis, Infectious encephalitis, Myocarditis	ORPHA:292
Cystic Fibrosis	Cirrhosis, Biliary cirrhosis, Bronchiectasis, Chronic sinusitis, Hepatosplenomegaly, Failure to t...	OMIM:219700
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Hypersplenism, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Failure to th...	OMIM:613385
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Obesity, Failure to thrive in infancy	OMIM:613670
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Obesity, Cholestasis	OMIM:609734
Legionnaires Disease	Endocarditis, Splenomegaly, Hepatitis, Jaundice, Pericarditis, Infectious encephalitis, Myocardit...	ORPHA:549
Macrocephaly/Autism Syndrome	Large for gestational age, Recurrent otitis media, Overgrowth, Hepatomegaly, Obesity, Splenomegaly	OMIM:605309
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis	OMIM:263210
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Ta...	OMIM:608594
Buschke-Ollendorff Syndrome	Flexion contracture, Recurrent fractures, Arthritis, Osteopoikilosis, Generalized osteosclerosis,...	ORPHA:1306
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Pancreatitis, Hepatomegaly	ORPHA:435651
11P15.4 Microduplication Syndrome	Obesity	ORPHA:300305
Fructose Intolerance, Hereditary	Cirrhosis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatom...	OMIM:229600
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Colitis	ORPHA:88643
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Childhood-onset truncal obesity, Truncal obesity	OMIM:610156
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Lymphoma, Bronchiectasis, Allergic rhinitis, Liver abscess, Skin rash, Arthritis, Rheumatoid arth...	ORPHA:183675
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Disproportionate tall stature, Hepatic steatosis, Failure to thrive, Tall stature, Pancreatitis	OMIM:236200
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Pericardit...	OMIM:212065
Dysbetalipoproteinemia	Hepatic steatosis, Gout, Acute pancreatitis, Hepatomegaly, Obesity	ORPHA:412
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly	OMIM:200995
Cortisone Reductase Deficiency 1	Obesity, Acne	OMIM:604931
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hyperuricemia, Recurrent fractures, Increased bone mineral density, Ankylosis,...	OMIM:239000
Microsporidiosis	Prostatitis, Cachexia, Biliary tract abnormality, Myositis, Pneumonia, Lymphadenitis, Endocarditi...	ORPHA:2552
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Obesity	OMIM:616756
Xq27.3Q28 Duplication Syndrome	Failure to thrive, Truncal obesity	ORPHA:261483
Bardet-Biedl Syndrome 1	Hepatic fibrosis, Biliary tract abnormality, Truncal obesity, Obesity, Abdominal obesity	OMIM:209900
Avian Influenza	Conjunctivitis, Myelitis, Hepatitis, Elevated hepatic transaminase, Increased circulating lactate...	ORPHA:454836
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Osteopetrosis, Recurrent fractures	OMIM:611490
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Jaundice, Elevated hepatic transaminase, Copper accumulation in liver, ...	ORPHA:309854
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Exocrine pancreatic insufficiency, Failure to thrive, Cirrhosis	OMIM:616539
Abetalipoproteinemia	Hepatic fibrosis, Cirrhosis, Keratoconjunctivitis sicca, Elevated hepatic transaminase, Hepatic s...	ORPHA:14
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Tubulointerstitial nephritis, Osteomyelitis, Crusting erythematous dermatitis, Hepatitis, Inflamm...	ORPHA:37042
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia	ORPHA:167
Combined Oxidative Phosphorylation Deficiency 11	Hepatic steatosis, Decreased liver function, Hepatomegaly	OMIM:614922
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Ta...	OMIM:269700
Familial Chylomicronemia Syndrome	Recurrent pancreatitis, Decreased body weight, Perianal abscess, Jaundice, Hepatosplenomegaly, He...	ORPHA:444490
Obesity Due To Melanocortin 4 Receptor Deficiency	Childhood-onset truncal obesity, Obesity	ORPHA:71529
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis	OMIM:224230
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis	ORPHA:2031
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Increased bone mineral density, Hypocalcemic seizures, Hy...	ORPHA:36913
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Increased circulating lactat...	ORPHA:99901
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis	OMIM:614091
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pancreatic cysts, Hepatic fibrosis, Jaundice, Nephritis, Polycystic liver disease, Bile duct prol...	OMIM:208500
Potocki-Lupski Syndrome	Hypocholesterolemia	OMIM:610883
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Birth length greater than 97th percentile, Cirrhosis, Microvesicular hepatic steatosis, Large for...	OMIM:300868
11Q22.2Q22.3 Microdeletion Syndrome	Obesity, Hemangioma	ORPHA:444002
Schnitzler Syndrome	Increased bone mineral density, Arthritis	ORPHA:37748
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis	OMIM:231095
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cirrhosis, Slender build, Small for gestational age, Elevated hepatic transaminase, Hepatic steat...	OMIM:613658
Immunodeficiency By Defective Expression Of Mhc Class Ii	Rhinitis, Skin rash, Sclerosing cholangitis, Chronic mucocutaneous candidiasis, Failure to thrive...	ORPHA:572
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Abnorma...	ORPHA:90650
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transaminase, Failu...	OMIM:203700
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive	OMIM:210200
Cryptococcosis	Cirrhosis, Osteomyelitis, Prostatitis, Lymphoid leukemia, Neoplasm, Peritonitis, Pneumonia	ORPHA:1546
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Conjunctivitis, Septic arthritis, Prostatitis, Pyoderma, Enteroviral hepatitis, Epididymitis, Rec...	OMIM:307200
Joubert Syndrome 37	Obesity, Hepatomegaly	OMIM:619185
Chondrodysplasia, Blomstrand Type	Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis	OMIM:215045
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase	OMIM:611126
Bardet-Biedl Syndrome 22	Obesity, Large for gestational age	OMIM:617119
Bacterial Toxic-Shock Syndrome	Septic arthritis, Myocarditis, Osteomyelitis, Infectious encephalitis, Hepatitis, Skin rash, Fasc...	ORPHA:36234
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity, Atopic dermatitis	OMIM:606772
Primary Pigmented Nodular Adrenocortical Disease	Cutaneous myxoma, Elevated hepatic transaminase, Pituitary adenoma, Fibroadenoma of the breast, H...	ORPHA:189439
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Elevated circulating alkaline phosphatase concentration	ORPHA:52430
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Aspiration pneumonia, Micronodular cirrhosis, Hepatomegaly, Truncal obesity, Spl...	OMIM:301072
Leptin Deficiency Or Dysfunction	Recurrent pneumonia, Obesity	OMIM:614962
Cystic Fibrosis	Cirrhosis, Abnormality of the liver, Bronchiectasis, Elevated hepatic transaminase, Failure to th...	ORPHA:586
Carnitine-Acylcarnitine Translocase Deficiency	Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly	OMIM:212138
Myasthenia Gravis	Hepatitis, Myositis, Hashimoto thyroiditis, Rheumatoid arthritis	ORPHA:589
Autoimmune Lymphoproliferative Syndrome	Hepatocellular carcinoma, Neoplasm of the skin, Glomerulonephritis, Gastritis, Hepatomegaly, Coli...	ORPHA:3261
Arima Syndrome	Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Cirrhosis	OMIM:243910
Familial Partial Lipodystrophy, Dunnigan Type	Hepatic steatosis, Pancreatitis, Splenomegaly, Hepatomegaly	ORPHA:2348
Combined Oxidative Phosphorylation Deficiency 12	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:614924
Chromosome 16P13.3 Deletion Syndrome, Proximal	Facial hemangioma, Polysplenia, Obesity, Failure to thrive	OMIM:610543
Mehmo Syndrome	Small for gestational age, Obesity	OMIM:300148
Lymphoproliferative Syndrome, X-Linked, 1	Lymphoma, Hepatic failure, Burkitt lymphoma, Fulminant hepatitis, Hepatomegaly, Infectious enceph...	OMIM:308240
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Small for gestational age, Elevated hepatic transaminase, Punctate keratitis, Fa...	OMIM:557000
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Renal cell carcinoma, Pituitary adenoma, Neuroendocrine neoplasm, Hepatic steatosis, Meningioma, ...	ORPHA:189427
Neutral Lipid Storage Myopathy	Very long chain fatty acid accumulation, Chronic pancreatitis, Elevated hepatic transaminase, Inc...	ORPHA:98908
Multiple Myeloma	Hypercalcemia, Osteopenia, Elevated circulating creatinine concentration, Hyperproteinemia, Patho...	ORPHA:29073
Bardet-Biedl Syndrome 7	Obesity	OMIM:615984
Gaisböck Syndrome	Hyperuricemia, Increased circulating renin level, Gout, Hypercholesterolemia, Hyperproteinemia, H...	ORPHA:90041
Trisomy 5P	Obesity	ORPHA:1742
Microduplication Xp11.22P11.23 Syndrome	Obesity	ORPHA:217377
Diastrophic Dysplasia	Camptodactyly of finger, Increased bone mineral density, Joint stiffness, Joint hyperflexibility	ORPHA:628
Ebola Hemorrhagic Fever	Hepatitis, Acute pancreatitis, Maculopapular exanthema	ORPHA:319218
Paget Disease Of Bone 3	Osteolysis, Patchy osteosclerosis, Fractures of the long bones	OMIM:167250
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Hepatitis, Elevated hepatic transaminase, Failure to thrive, Hepatomegaly, Decre...	ORPHA:415
Dyskeratosis Congenita	Lymphoma, Cirrhosis, Hepatic failure, Periodontitis, Neoplasm of the pancreas, Neoplasm, Hepatome...	ORPHA:1775
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hepatic necrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Decreased ...	ORPHA:71212
Fanconi-Bickel Syndrome	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl...	ORPHA:2088
Simple Cryoglobulinemia	Chronic lymphatic leukemia, Weight loss, Arthritis, Multiple myeloma, Membranoproliferative glome...	ORPHA:91139
Osteogenesis Imperfecta, Type Xiii	Recurrent fractures, Increased bone mineral density, Joint hypermobility, Limitation of knee mobi...	OMIM:614856
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Tubulointerstitial nephritis, Microvesicular hepatic steatosis, Periportal fibrosis, Elevated hep...	OMIM:124000
Chronic Mucocutaneous Candidiasis	Hepatitis, Skin rash, Cheilitis	ORPHA:1334
Lipe-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatomegaly	ORPHA:435660
Borjeson-Forssman-Lehmann Syndrome	Obesity	OMIM:301900
Autoimmune Polyendocrinopathy Type 4	Thymoma, Tubulointerstitial nephritis, Biliary cirrhosis, Atrophic gastritis, Iridocyclitis, Hepa...	ORPHA:227990
Maternal Uniparental Disomy Of Chromosome 4	Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ...	ORPHA:96180
Mucopolysaccharidosis Type 7	Hepatitis, Splenomegaly	ORPHA:584
Cranioectodermal Dysplasia 3	Cirrhosis	OMIM:614099
Alagille Syndrome 1	Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatocellular carcinoma, Reduced numb...	OMIM:118450
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Obesity, Chronic otitis media, Lipoma	ORPHA:480907
Bardet-Biedl Syndrome 4	Obesity	OMIM:615982
Obesity, Hyperphagia, And Developmental Delay	Obesity	OMIM:613886
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Failure to thrive, Bile ...	OMIM:618329
Pseudohypoparathyroidism Type 1B	Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Increased bone density with cystic changes, I...	ORPHA:94089
Autoimmune Polyendocrinopathy Type 3	Thymoma, Tubulointerstitial nephritis, Biliary cirrhosis, Atrophic gastritis, Iridocyclitis, Hepa...	ORPHA:227982
Metaphyseal Dysplasia, Braun-Tinschert Type	Thin bony cortex, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis...	ORPHA:85188
Spondyloepiphyseal Dysplasia Tarda	Limited elbow movement, Hip osteoarthritis, Increased bone mineral density, Synovitis, Osteoarthr...	ORPHA:93284
Osteopetrosis And Infantile Neuroaxonal Dystrophy	Osteopetrosis	OMIM:600329
Thymic Aplasia	Chronic oral candidiasis, Thyroiditis, Atypical or prolonged hepatitis, Failure to thrive, Sinusi...	ORPHA:83471
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification	ORPHA:163649
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Atrophic gastritis, Chronic oral candidiasis, Keratoconjunctivitis, Iridocyclitis, Chro...	OMIM:240300
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concen...	OMIM:620005
Mody	Pancreatic hypoplasia, Large for gestational age, Overweight, Hepatocellular adenoma, Exocrine pa...	ORPHA:552
Monosomy 13Q34	Hepatic steatosis, Obesity	ORPHA:96168
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis, Jaundice, Hepatic periportal necrosis, Hepatomegaly	OMIM:231680
Temple Syndrome	Small for gestational age, Recurrent otitis media, Overweight, Truncal obesity, Obesity	OMIM:616222
Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Large for gestational age, Increased hepatic glycogen content, Ele...	ORPHA:263455
Meckel Syndrome 14	Hepatic fibrosis	OMIM:619879
19P13.12 Microdeletion Syndrome	Hepatic steatosis, Obesity	ORPHA:254346
Fructose-1,6-Bisphosphatase Deficiency	Hepatic steatosis, Abnormal circulating enzyme concentration or activity, Elevated hepatic transa...	ORPHA:348
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity	OMIM:618725
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Aplasia/Hypoplasia of the pancreas, Failure to thrive, Hepatomegaly, Exocrine pancreatic insuffic...	ORPHA:456312
Morm Syndrome	Truncal obesity	ORPHA:75858
Dysosteosclerosis	Increased bone mineral density, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, ...	ORPHA:1782
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Spondyloenchondrodysplasia	Juvenile rheumatoid arthritis, Hepatitis, Skin rash, Arthritis, Enchondroma, Pneumonia	ORPHA:1855
Aicardi-Goutieres Syndrome 7	Atopic dermatitis, Atrophic gastritis, Weight loss, Hepatitis, Skin rash, Arthritis, Chilblains, ...	OMIM:615846
Combined Oxidative Phosphorylation Deficiency 27	Failure to thrive, Microvesicular hepatic steatosis	OMIM:616672
Mehmo Syndrome	Obesity	ORPHA:85282
Progeria-Short Stature-Pigmented Nevi Syndrome	Small for gestational age, Neoplasm of the pancreas, Elevated hepatic transaminase, Hepatic steat...	ORPHA:2959
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Failure to thrive, Diffuse hepatic steatosis, Hepatomegaly	ORPHA:436271
Chronic Visceral Acid Sphingomyelinase Deficiency	Cirrhosis, Hepatic failure, Splenomegaly, Hypersplenism, Neoplasm of the liver, Acute promyelocyt...	ORPHA:77293
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Obesity, Atopic dermatitis	ORPHA:397973
Mccune-Albright Syndrome	Breast carcinoma, Hepatitis, Cutaneous myxoma, Cholestasis, Hepatocellular adenoma, Benign gastro...	ORPHA:562
Summitt Syndrome	Obesity, Tall stature	ORPHA:3210
Lysinuric Protein Intolerance	Tubulointerstitial nephritis, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatosp...	ORPHA:470
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Biemond Syndrome Type 2	Obesity	ORPHA:141333
Blue Diaper Syndrome	Elevated hepatic transaminase, Increased body weight	ORPHA:94086
Coenzyme Q10 Deficiency, Primary, 2	Obesity, Overweight	OMIM:614651
Late-Onset Isolated Acth Deficiency	Weight loss, Hepatitis, Pituitary adenoma, Failure to thrive, Hashimoto thyroiditis	ORPHA:199299
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Decreased osteoclast count, Diaphyseal sclerosis, Mandibular ...	OMIM:259710
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Hypocalcemic tetany, Osteomalacia, Abnormal trabecular bone morphology, I...	ORPHA:289176
Aromatase Deficiency	Hepatic steatosis, Tall stature, Obesity, Eunuchoid habitus	ORPHA:91
Rift Valley Fever	Hepatitis, Skin rash, Jaundice, Elevated hepatic transaminase, Uveitis, Infectious encephalitis	ORPHA:319251
Joubert Syndrome 1	Hepatic fibrosis	OMIM:213300
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Psoriasiform dermatitis, Interface hepatitis, Enterocolitis, T-cell lymphoma	OMIM:243150
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Relapsing Polychondritis	Conjunctivitis, Recurrent aphthous stomatitis, Scleritis, Hepatitis, Arthritis, Inflammatory abno...	ORPHA:728
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Recurrent pneumonia, Hepatom...	OMIM:613327
Secondary Intestinal Lymphangiectasia	Lymphoma, Cirrhosis, Constrictive pericarditis, B-cell lymphoma	ORPHA:90363
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia	OMIM:618810
Chung-Jansen Syndrome	Obesity	OMIM:617991
Carpenter Syndrome	Polysplenia, Obesity	ORPHA:65759
Short Rib-Polydactyly Syndrome	Hepatic cysts, Hepatic fibrosis, Abnormality of the liver	ORPHA:1505
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Pancreatic cysts, Hepatic fibrosis, Cholangitis, Hepatosplenomegaly, Failure to thrive, Cholestas...	OMIM:266920
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity	ORPHA:2429
Liver Disease, Severe Congenital	Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Joint laxity, Elevated ...	OMIM:619991
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Obesity	ORPHA:352530
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Renal cell carc...	ORPHA:93111
Growth Hormone Insensitivity Syndrome	Failure to thrive, Truncal obesity	ORPHA:181393
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Microvesicular hepatic steatosis, Small for gestationa...	ORPHA:404454
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
3-Methylglutaconic Aciduria Type 7	Hepatic steatosis, Elevated hepatic transaminase	ORPHA:445038
Dyskeratosis Congenita, X-Linked	Conjunctivitis, Acute myeloid leukemia, Cirrhosis, Oropharyngeal squamous cell carcinoma, Myelody...	OMIM:305000
Agammaglobulinemia, X-Linked	Conjunctivitis, Septic arthritis, Bronchiectasis, Prostatitis, Pyoderma, Enteroviral hepatitis, H...	OMIM:300755
Pearson Syndrome	Hepatic failure, Splenomegaly, Abnormality of the liver, Small for gestational age, Elevated hepa...	ORPHA:699
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Pancreatic fibrosis, Hamartoma of tongue	OMIM:263520
Bardet-Biedl Syndrome 8	Obesity	OMIM:615985
D-Bifunctional Protein Deficiency	Very long chain fatty acid accumulation, Elevated hepatic transaminase, Hepatic steatosis, Failur...	OMIM:261515
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Bardet-Biedl Syndrome 2	Obesity	OMIM:615981
Mitochondrial Trifunctional Protein Deficiency	Diffuse hepatic steatosis, Failure to thrive in infancy, Cholestasis, Chronic hepatic failure	ORPHA:746
Baralle-Macken Syndrome	Obesity	OMIM:619255
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration	ORPHA:158048
Turner Syndrome Due To Structural X Chromosome Anomalies	Gonadoblastoma, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Thyroiditis, Gastrointestinal inf...	ORPHA:99413
Mosaic Monosomy X	Gonadoblastoma, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Thyroiditis, Gastrointestinal inf...	ORPHA:99228
Monosomy X	Gonadoblastoma, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Thyroiditis, Gastrointestinal inf...	ORPHA:99226
Turner Syndrome	Gonadoblastoma, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Thyroiditis, Gastrointestinal inf...	ORPHA:881
Idiopathic Hypereosinophilic Syndrome	Erythroderma, Myelodysplasia, Inflammatory abnormality of the skin, Arthritis, Pancreatitis, Elev...	ORPHA:3260
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Enterocolitis, Bronchiectasis, Oropharyngeal squamous cell carcinoma, Hepatitis, Inflammatory abn...	ORPHA:391487
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Acute Disseminated Encephalomyelitis	Viral hepatitis, Optic neuritis, Myelitis, Herpes simplex encephalitis	ORPHA:83597
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Obesity	OMIM:300238
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Obesity, Recurrent otitis media	ORPHA:254531
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva...	OMIM:608836
Clark-Baraitser Syndrome	Obesity	OMIM:617752
Xylt1-Cdg	Acne, Hepatomegaly, Truncal obesity	ORPHA:370930
Rafiq Syndrome	Obesity, Truncal obesity	OMIM:614202
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Obesity	ORPHA:2233
Zygomycosis	Endocarditis, Enterocolitis, Infectious encephalitis, Hepatitis, Fasciitis, Nephritis, Pericardit...	ORPHA:73263
48,Xxyy Syndrome	Lymphoma, Obesity, Chronic otitis media, Tall stature	ORPHA:10
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Elevated gamma-gl...	ORPHA:247598
Seckel Syndrome 10	Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Acute pancreatiti...	OMIM:617253
Congenital Disorder Of Deglycosylation 1	Hepatic fibrosis, Elevated hepatic transaminase, Decreased body weight, Hepatomegaly	OMIM:615273
Retinitis Pigmentosa	Obesity	ORPHA:791
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Increased intramyocellular lipid droplets, Failure to thrive, Hepatomegaly, Decreased liver funct...	OMIM:220110
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Thin bony cortex, Increased bone mineral density, Osteopenia	ORPHA:85184
Majeed Syndrome	Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Increased bone mineral...	ORPHA:77297
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Transient hypophosphatemia, Increased bone mineral density, Thickened cortex o...	OMIM:127000
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity	OMIM:618124
Prader-Willi Syndrome Due To Imprinting Mutation	Obesity	ORPHA:177910
Combined Oxidative Phosphorylation Deficiency 54	Retrobulbar optic neuritis, Obesity	OMIM:619737
Orofaciodigital Syndrome I	Pancreatic cysts, Hepatic fibrosis, Hepatic cysts, Hypothalamic hamartoma, Hamartoma of tongue	OMIM:311200
Wilson-Turner Syndrome	Truncal obesity	ORPHA:3459
Gaucher Disease	Cirrhosis, Osteomyelitis, Hepatitis, Hepatomegaly, Splenomegaly, Osteoarthritis	ORPHA:355
Alg12-Cdg	Abnormal bone ossification, Camptodactyly, Hyponatremia, Hypocholesterolemia, Hypoalbuminemia	ORPHA:79324
Kawasaki Disease	Conjunctivitis, Hepatitis, Skin rash, Jaundice, Arthritis, Pericarditis, Cholecystitis, Myocardit...	ORPHA:2331
Cranioectodermal Dysplasia 1	Tubulointerstitial nephritis, Hepatic failure, Hepatic fibrosis, Malformation of the hepatic duct...	OMIM:218330
Hydrocephalus-Obesity-Hypogonadism Syndrome	Obesity	ORPHA:2183
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,...	OMIM:112250
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Osteopetrosis, Facial hyperostosis, Coarse metaphyseal trabecular...	ORPHA:2780
Craniometaphyseal Dysplasia	Osteopetrosis, Craniofacial hyperostosis	ORPHA:1522
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Hyperbilirubinemia, Decreased osteoclast count, Cranial hyperosto...	OMIM:259720
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Diaphyseal sclerosis, Craniofacial osteosclerosis, Hypocalcemia, Os...	OMIM:618476
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity	OMIM:616521
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hepatitis, Hashimoto thyroiditis, Abnormality of the ductus choledochus, Psor...	ORPHA:436252
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Tubulointerstitial nephritis, Reduced carnitine O-palmitoyltransferase level, Hepatic failure, He...	ORPHA:228308
Bloom Syndrome	Lymphoma, Malar rash, Bronchiectasis, Small for gestational age, Squamous cell carcinoma, Hepatic...	OMIM:210900
Immunodeficiency 82 With Systemic Inflammation	Crohn's disease, Osteomyelitis, Weight loss, Bronchiectasis, Hepatitis, Skin rash, Arthritis, Cho...	OMIM:619381
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie...	OMIM:601376
Obesity Due To Sim1 Deficiency	Obesity	ORPHA:369873
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Obesity, Truncal obesity	OMIM:618363
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Osteopetrosis, Increased circulating ferritin concentration	ORPHA:3240
Cntnap2-Related Developmental And Epileptic Encephalopathy	Obesity, Hepatomegaly	ORPHA:163681
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Obesity, Hepatomegaly	OMIM:618443
Spastic Paraplegia 11, Autosomal Recessive	Obesity	OMIM:604360
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Microtriplication 11Q24.1	Obesity	ORPHA:289522
Visceral Steatosis, Congenital	Hepatic steatosis, Jaundice	OMIM:228100
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Obesity	ORPHA:254525
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Obesity, Recurrent otitis media, Truncal obesity	ORPHA:96184
Immunodeficiency 87 And Autoimmunity	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Atrophic gastritis,...	OMIM:619573
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Biliary cirrhosis,...	OMIM:619534
Pycnodysostosis	Increased susceptibility to fractures, Coronal craniosynostosis, Increased bone mineral density, ...	ORPHA:763
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Obesity, Tall stature	OMIM:618089
Temple Syndrome	Small for gestational age, Obesity	ORPHA:254516
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Enterocolitis, Periodontitis, Thyroiditis, Hepatocellular carcinoma, Ulcerative colitis, Abnormal...	ORPHA:79259
Atkin-Flaitz Syndrome	Obesity	ORPHA:1193
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated circulating alkaline phosphatase concentration, Elevated hepatic transaminase, Large for...	OMIM:616026
Clark-Baraitser syndrome	Obesity, Tall stature	OMIM:300602
Wagr Syndrome	Obesity	ORPHA:893
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Bacterial endocarditis, Cachexia, Hepatosplenomegaly, Cholelithiasis, Abnormali...	ORPHA:2072
Smith-Lemli-Opitz Syndrome	Cirrhosis, Eczema, Recurrent otitis media, Hepatic steatosis, Failure to thrive, Facial capillary...	OMIM:270400
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Obesity	ORPHA:3085
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating alanine aminotransferase concentration, Increased hepatic echogenicity, Elev...	OMIM:619525
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity	OMIM:615633
Beta-Mercaptolactate Cysteine Disulfiduria	Obesity	ORPHA:1035
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Obesity	ORPHA:464282
6Q16 Microdeletion Syndrome	Obesity	ORPHA:171829
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Obesity	ORPHA:411515
Dysosteosclerosis	Increased susceptibility to fractures, Sclerotic scapulae, Clavicular sclerosis, Osteopenia, Scle...	OMIM:224300
Atkin-Flaitz Syndrome	Obesity, Tall stature	OMIM:300431
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity	OMIM:618821
3-Methylglutaconic Aciduria, Type Viib	Hepatic steatosis, Recurrent pneumonia	OMIM:616271
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Short-Rib Thoracic Dysplasia 12	Splenomegaly, Hamartoma of tongue, Periportal fibrosis, Hepatomegaly	OMIM:269860
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Abdominal obesity, Truncal obesity	OMIM:618160
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Obesity, Eczema	ORPHA:464288
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr...	OMIM:207750
Bardet-Biedl Syndrome 3	Obesity	OMIM:600151
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Truncal obesity	ORPHA:2928
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Obesity	ORPHA:171839
Bardet-Biedl Syndrome 9	Obesity, Truncal obesity	OMIM:615986
Postinfectious Vasculitis	Bacterial endocarditis, Weight loss, Inflammatory abnormality of the skin, Arthritis, Gastrointes...	ORPHA:48435
Laurence-Moon Syndrome	Obesity	OMIM:245800
13Q12.3 Microdeletion Syndrome	Failure to thrive, Obesity, Chronic otitis media, Atopic dermatitis	ORPHA:412035
Dilated Cardiomyopathy With Ataxia	Microvesicular hepatic steatosis, Elevated hepatic transaminase	ORPHA:66634
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
X-Linked Hypophosphatemia	Vertebral hyperostosis, Enthesitis, Arthritis, Hypophosphatemia, Limitation of joint mobility, Ge...	ORPHA:89936
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Obesity	OMIM:619854
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatic steatosis, Esophagitis, Elevated hepatic transaminase, Hepatomegaly	OMIM:615356
3-Hydroxy-3-Methylglutaric Aciduria	Weight loss, Jaundice, Elevated hepatic transaminase, Acute pancreatitis, Hepatomegaly, Lipid acc...	ORPHA:20
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemic seizures	OMIM:241410
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Chromosome 2Q37 Deletion Syndrome	Obesity, Eczema	OMIM:600430
Pseudopseudohypoparathyroidism	Obesity	OMIM:612463
X-Linked Intellectual Disability, Stevenson Type	Obesity, Tall stature	ORPHA:85325
Primary Sjögren Syndrome	Lymphoma, Tubulointerstitial nephritis, Biliary cirrhosis, Chronic active hepatitis, Lymphocytic ...	ORPHA:289390
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Obesity, Eunuchoid habitus	ORPHA:2234
Idiopathic Intracranial Hypertension	Obesity	ORPHA:238624
Werner Syndrome	Increased bone mineral density, Joint stiffness, Osteoporosis	ORPHA:902
Intellectual Developmental Disorder, Autosomal Recessive 13	Truncal obesity	OMIM:613192
Pseudohypoparathyroidism Type 1C	Hypocalcemic tetany, Hyperphosphatemia, Ectopic ossification, Calcinosis, Increased bone mineral ...	ORPHA:79444
Mucopolysaccharidosis-Plus Syndrome	Nephritis, Macrovesicular hepatic steatosis, Recurrent pneumonia, Hepatomegaly, Splenomegaly	OMIM:617303
Schwartz-Jampel Syndrome	Wrist flexion contracture, Hip contracture, Increased bone mineral density, Joint stiffness, Shou...	ORPHA:800
Morgagni-Stewart-Morel Syndrome	Obesity, Osteoarthritis, Acne	ORPHA:77296
Pseudohypoparathyroidism Type 1A	Hypocalcemic tetany, Hyperphosphatemia, Ectopic ossification, Calcinosis, Hyperostosis frontalis ...	ORPHA:79443
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis	OMIM:615085
Leptospirosis	Hepatitis, Skin rash, Jaundice, Uveitis, Pericarditis, Optic neuritis, Hepatomegaly, Elevated ser...	ORPHA:509
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatic steatosis, Pancreatitis, Splenomegaly, Hepatomegaly	ORPHA:280365
Dysostosis, Stanescu Type	Increased bone mineral density, Massively thickened long bone cortices	ORPHA:1798
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Obesity	ORPHA:3077
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Abdominal obesity	OMIM:300869
X-Linked Intellectual Disability, Shashi Type	Obesity	ORPHA:85286
Schaaf-Yang Syndrome	Obesity, Failure to thrive in infancy	OMIM:615547
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Sclerosis of skull base, Cortical thickenin...	OMIM:131300
Cornelia De Lange Syndrome 5	Truncal obesity	OMIM:300882
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Osteopetrosis	OMIM:617306
Meckel Syndrome	Pancreatic cysts, Asplenia, Pancreatic fibrosis, Accessory spleen, Cystic liver disease, Congenit...	ORPHA:564
Desmosterolosis	Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand, Ab...	OMIM:602398
15Q24 Microdeletion Syndrome	Small for gestational age, Failure to thrive, Obesity	ORPHA:94065
Diaphanospondylodysostosis	Nephroblastomatosis, Abnormal liver lobulation	OMIM:608022
Raine Syndrome	Increased bone mineral density, Hypophosphatemia, Subperiosteal bone formation, Arthrogryposis mu...	OMIM:259775
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Increased intramyocellular lipid droplets, Abnormal circulating en...	ORPHA:17
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Truncal obesity	OMIM:610475
Megalencephaly	Truncal obesity	ORPHA:2477
Acute Liver Failure	Hepatocellular necrosis, Hepatic necrosis, Jaundice, Hepatitis, Elevated hepatic transaminase, Sk...	ORPHA:90062
Pseudohypoparathyroidism, Type Ib	Obesity	OMIM:603233
Desmosterolosis	Increased bone mineral density, Osteopetrosis	ORPHA:35107
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephroblastoma, Gonadoblastoma, Obesity	OMIM:194072
Lipodystrophy, Familial Partial, Type 2	Hepatic steatosis, Acute pancreatitis, Hepatomegaly	OMIM:151660
Congenital Myopathy 9A	Obesity	OMIM:618822
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Obesity, Tall stature	OMIM:618430
Shox-Related Short Stature	Obesity	ORPHA:314795
Bardet-Biedl Syndrome 20	Obesity, Elevated hepatic transaminase, Pancreatitis	OMIM:619471
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity	OMIM:601794
Intellectual Developmental Disorder, X-Linked 107	Obesity	OMIM:301013
Laron Syndrome	Osteoarthritis, Truncal obesity	ORPHA:633
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Obesity	ORPHA:363741
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Obesity	OMIM:610628
Body Mass Index Quantitative Trait Locus 19	Obesity	OMIM:617885
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Recurrent otitis media, Hepatosplenomegaly, Cholecystitis, Hepatomegaly, Obesity, Cholelithiasis	OMIM:301066
Chromosome 3Q29 Duplication Syndrome	Obesity	OMIM:611936
Alg9-Cdg	Hepatic cysts, Periportal fibrosis, Hepatomegaly	ORPHA:79328
Intellectual Developmental Disorder, X-Linked 12	Small for gestational age, Increased body mass index, Truncal obesity	OMIM:300957
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Urban-Rogers-Meyer Syndrome	Obesity	ORPHA:3409
Acrodysostosis 2 With Or Without Hormone Resistance	Obesity	OMIM:614613
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Obesity	OMIM:619056
Tatton-Brown-Rahman Syndrome	Obesity, Myeloid leukemia, Neuroendocrine neoplasm, Proportionate tall stature	ORPHA:404443
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia	OMIM:244450
Sanjad-Sakati Syndrome	Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia	ORPHA:2323
Carney Complex	Esophageal neoplasm, Neoplasm of the pancreas, Cutaneous myxoma, Hepatocellular carcinoma, Follic...	ORPHA:1359
X-Linked Intellectual Disability, Hedera Type	Obesity	ORPHA:93952
Leptin Receptor Deficiency	Obesity	OMIM:614963
Tangier Disease	Hypocholesterolemia, Hypertriglyceridemia	ORPHA:31150
Occipital Horn Syndrome	Hepatitis, Jaundice, Cholestasis, Esophagitis, Exostoses	ORPHA:198
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Obesity	ORPHA:2180
Radio-Tartaglia Syndrome	Obesity, Hemangioma	OMIM:619312
Luscan-Lumish Syndrome	Overgrowth, Obesity, Recurrent otitis media	OMIM:616831
Smith-Magenis Syndrome	Obesity, Failure to thrive in infancy, Chronic otitis media	ORPHA:819
Adiposis Dolorosa	Arthritis, Obesity, Recurrent skin infections	ORPHA:36397
Juvenile Polyposis Syndrome	Hypoproteinemia	ORPHA:2929
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Pathologic fracture, Hyperoxaluria	OMIM:259900
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Sarcoma, Neoplasm of the thyroid gland, Testicular neoplasm, Obesity, Neoplasm of the breast	ORPHA:457059
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosplenomegaly, Failure to thrive,...	OMIM:618278
Bloom Syndrome	Nephroblastoma, Acute myeloid leukemia, Lymphoma, Stomach cancer, Rhinitis, Myelodysplasia, Small...	ORPHA:125
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Limitation of...	ORPHA:2658
Poems Syndrome	Sclerosis of foot bone, Sclerosis of skull base, Sclerosis of hand bone	ORPHA:2905
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Obesity	OMIM:300055
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Craniosynostosis, Multiple joint contractures	ORPHA:33364
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Increased bone mineral density, Synostosis of carpal bones, Carpal synos...	ORPHA:90652
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hepatic steatosis, Abdominal obesity	OMIM:619321
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Abdominal obesity	OMIM:300354
Carpenter Syndrome 1	Polysplenia, Obesity	OMIM:201000
Desbuquois Dysplasia 1	Obesity, Osteoarthritis	OMIM:251450
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Momo Syndrome	Overgrowth, Obesity, Large for gestational age, Tall stature	ORPHA:2563
Beckwith-Wiedemann Syndrome	Nephroblastoma, Gonadoblastoma, Large intestinal polyposis, Adrenocortical carcinoma, Obesity, La...	ORPHA:116
Ring Chromosome Y Syndrome	Gonadoblastoma, Obesity	ORPHA:261529
Distal 16P11.2 Microdeletion Syndrome	Obesity	ORPHA:261222
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Congenital-Onset Steinert Myotonic Dystrophy	Obesity, Decreased body weight	ORPHA:589821
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Truncal obesity	ORPHA:3041
Müllerian Aplasia And Hyperandrogenism	Obesity, Acne	ORPHA:247768
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Xanthelasma	ORPHA:35687
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis	OMIM:619934
Pseudopseudohypoparathyroidism	Obesity	ORPHA:79445
Dubowitz Syndrome	Hypocholesterolemia	OMIM:223370
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Obesity	OMIM:615418
Bardet-Biedl Syndrome 6	Obesity	OMIM:605231
12Q14 Microdeletion Syndrome	Osteopoikilosis	ORPHA:94063
Perrault Syndrome 4	Obesity, Disproportionate tall stature	OMIM:615300
Man1B1-Cdg	Truncal obesity	ORPHA:397941
Proprotein Convertase 1/3 Deficiency	Obesity	OMIM:600955
48,Xxxy Syndrome	Obesity, Chronic otitis media, Tall stature	ORPHA:96263
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Failure to thrive, Truncal obesity	ORPHA:73272
Marbach-Schaaf Neurodevelopmental Syndrome	Obesity, Recurrent otitis media	OMIM:619680
Alström Syndrome	Hepatic fibrosis, Hepatic failure, Cirrhosis, Hepatitis, Pancreatitis, Elevated hepatic transamin...	ORPHA:64
2Q37 Microdeletion Syndrome	Nephroblastoma, Obesity, Eczema	ORPHA:1001
Pde4D Haploinsufficiency Syndrome	Obesity	ORPHA:439822
Lysinuric Protein Intolerance	Splenomegaly, Failure to thrive, Hepatomegaly, Truncal obesity, Pancreatitis	OMIM:222700
Xp22.13P22.2 Duplication Syndrome	Truncal obesity	ORPHA:284180
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased body weight	OMIM:615954
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis	OMIM:259730
Chops Syndrome	Obesity, Aspiration pneumonia, Splenomegaly	OMIM:616368
Mosaic Trisomy 9	Abnormal liver lobulation, Asplenia	ORPHA:99776
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Jaundice, Obesity, Elevated hepatic transaminase	OMIM:614231
Atypical Werner Syndrome	Osteolytic defects of the phalanges of the hand, Increased bone mineral density, Limitation of jo...	ORPHA:79474
Momo Syndrome	Overgrowth, Obesity	OMIM:157980
Distal Monosomy 12Q	Late onset atopic dermatitis, Biliary atresia, Pituitary adenoma, Annular pancreas, Obesity, Fail...	ORPHA:96149
Pituitary Adenoma 4, Acth-Secreting	Obesity, Pituitary adenoma, Abdominal obesity	OMIM:219090
Bardet-Biedl Syndrome 17	Obesity	OMIM:615994
Telangiectasia, Hereditary Hemorrhagic, Type 2	Cirrhosis, Hepatic arteriovenous malformation	OMIM:600376
Ataxia-Oculomotor Apraxia 4	Obesity	OMIM:616267
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Decreased body weight, Osteomyelitis, Jaundice, Neurofibromas, Elevated hepatic transaminase, Hep...	OMIM:619475
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Obesity	ORPHA:98855
Down Syndrome	Acute megakaryocytic leukemia, Obesity	ORPHA:870
Insulin-Resistance Syndrome Type B	Lymphoma, Biliary cirrhosis, Decreased body weight, Weight loss, Skin rash, Multiple myeloma, Abn...	ORPHA:2298
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Abdominal obesity, Disproportionate tall stature	OMIM:301039
Silver-Russell Syndrome	Cachexia, Failure to thrive in infancy, Obesity	ORPHA:813
Gaucher Disease Type 3	Increased bone mineral density, Osteolysis, Increased susceptibility to fractures	ORPHA:77261
Angelman Syndrome Due To A Point Mutation	Obesity	ORPHA:411511
Pseudohypoparathyroidism, Type Ic	Obesity	OMIM:612462
X-Linked Emery-Dreifuss Muscular Dystrophy	Obesity	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Obesity	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Obesity	ORPHA:98853
1P36 Deletion Syndrome	Abnormality of the liver, Obesity, Hepatic steatosis, Failure to thrive, Annular pancreas, Abnorm...	ORPHA:1606
Kohlschutter-Tonz Syndrome-Like	Obesity, Decreased body weight, Overweight	OMIM:619229
Pseudohypoparathyroidism, Type Ia	Obesity	OMIM:103580
Bdv Syndrome	Obesity	OMIM:619326
White-Sutton Syndrome	Failure to thrive, Obesity	OMIM:616364
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Wagro Syndrome	Nephroblastoma, Obesity, Multiple exostoses	OMIM:612469
Obesity Due To Congenital Leptin Deficiency	Obesity	ORPHA:66628
Lujo Hemorrhagic Fever	Maculopapular exanthema, Rhinitis, Fulminant hepatitis, Skin rash, Elevated hepatic transaminase,...	ORPHA:319213
Peripartum Cardiomyopathy	Myocarditis, Obesity	ORPHA:563
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures	OMIM:612301
Acth-Independent Macronodular Adrenal Hyperplasia	Neoplasm, Truncal obesity	OMIM:219080
Sarcoidosis	Tubulointerstitial nephritis, Hepatic failure, Weight loss, Bronchiectasis, Erythema nodosum, Ker...	ORPHA:797
Obesity Due To Leptin Receptor Gene Deficiency	Obesity	ORPHA:179494
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Truncal obesity	ORPHA:3224
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Recurrent pneumonia, Obesity	OMIM:618493
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints	ORPHA:50945
Angelman Syndrome	Obesity	OMIM:105830
X-Linked Lymphoproliferative Disease	Burkitt lymphoma, Hepatic failure, Fulminant hepatitis, Hepatic necrosis, Elevated hepatic transa...	ORPHA:2442
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Membranoproliferative glomerulonephritis	ORPHA:251004
Sim1-Related Prader-Willi-Like Syndrome	Failure to thrive, Obesity, Abdominal obesity	ORPHA:398079
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity	OMIM:608624
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Obesity	ORPHA:261197
Kleefstra Syndrome Due To 9Q34 Microdeletion	Failure to thrive, Obesity	ORPHA:96147
Borjeson-Forssman-Lehmann Syndrome	Truncal obesity	ORPHA:127
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Obesity	ORPHA:98794
Narcolepsy 7	Obesity	OMIM:614250
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Generalized osteosclerosis	ORPHA:416
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Hypophosphatemia, Hypocalcemia, Osteopetrosis, Craniosynostosis, Reduced bon...	ORPHA:667
Achondroplasia	Obesity	ORPHA:15
X-Linked Intellectual Disability, Cabezas Type	Cachexia, Obesity	ORPHA:85293
Kleefstra Syndrome 1	Obesity	OMIM:610253
Telangiectasia, Hereditary Hemorrhagic, Type 1	Cirrhosis, Hepatic arteriovenous malformation	OMIM:187300
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Kleefstra Syndrome	Obesity, Chronic otitis media	ORPHA:261494
Cohen Syndrome	Small for gestational age, Childhood-onset truncal obesity	OMIM:216550
Abdominal Obesity-Metabolic Syndrome 4	Obesity	OMIM:618620
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Obesity	OMIM:617296
Cleidocranial Dysplasia 1	Delayed pubic bone ossification, Increased bone mineral density, Increased susceptibility to frac...	OMIM:119600
Insulin-Like Growth Factor I, Resistance To	Decreased body weight, Truncal obesity	OMIM:270450
Diamond-Blackfan Anemia 21	Osteosarcoma, Obesity	OMIM:620072
Digeorge Syndrome	Recurrent sinusitis, Recurrent otitis media, Hepatic steatosis, Recurrent pneumonia, Cholelithias...	OMIM:188400
Osteopetrosis With Renal Tubular Acidosis	Hypocalcemia, Osteopetrosis, Recurrent fractures, Elevated circulating creatine kinase concentration	ORPHA:2785
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Williams Syndrome	Abnormal circulating lipid concentration, Increased bone mineral density, Radioulnar synostosis, ...	ORPHA:904
Septo-Optic Dysplasia Spectrum	Obesity	ORPHA:3157
Cohen Syndrome	Obesity, Failure to thrive in infancy	ORPHA:193
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Obesity	ORPHA:2235
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatomegaly	OMIM:619127
Angelman Syndrome	Obesity	ORPHA:72
Cushing Syndrome Due To Ectopic Acth Secretion	Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Abdominal obesity, Panc...	ORPHA:99889
Prader-Willi Syndrome	Failure to thrive in infancy, Obesity, Abdominal obesity	OMIM:176270
Autosomal Recessive Spastic Paraplegia Type 11	Obesity, Overweight	ORPHA:2822
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small for gestational age, Failure to thrive, Obesity	ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small for gestational age, Failure to thrive, Obesity	ORPHA:98793
22Q11.2 Deletion Syndrome	Arthritis, Failure to thrive, Chronic otitis media, Cholelithiasis, Obesity, Splenomegaly, Seborr...	ORPHA:567
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small for gestational age, Failure to thrive, Obesity	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small for gestational age, Failure to thrive, Obesity	ORPHA:177901
3Q29 Microduplication Syndrome	Obesity	ORPHA:251038
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low alkaline phosphatase, Obesity	ORPHA:369837
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Obesity, Recurrent otitis media	OMIM:250420
White-Sutton Syndrome	Obesity	ORPHA:468678
Prader-Willi-Like Syndrome	Small for gestational age, Failure to thrive, Obesity	ORPHA:398073
7Q11.23 Microduplication Syndrome	Obesity, Chronic otitis media	ORPHA:96121
Ogden Syndrome	Microvesicular hepatic steatosis, Jaundice, Eczema, Recurrent otitis media, Macrovesicular hepati...	OMIM:300855
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Failure to thrive, Obesity, Eczema, Seborrheic dermatitis	ORPHA:369950
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Ganglioneuroma, Infectious encephalitis, Obesity, Ganglioneuroblas...	ORPHA:293987
Abdominal Obesity-Metabolic Syndrome 3	Abdominal obesity, Truncal obesity	OMIM:615812
Pmm2-Cdg	Hepatic fibrosis, Aspiration pneumonia, Elevated hepatic transaminase, Pericarditis, Failure to t...	ORPHA:79318
Magel2-Related Prader-Willi-Like Syndrome	Failure to thrive, Abdominal obesity, Increased body weight	ORPHA:398069
Microcephalic Primordial Dwarfism, Dauber Type	Obesity	ORPHA:319675
Sheehan Syndrome	Hashimoto thyroiditis, Obesity	ORPHA:91355
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Small for gestational age, Failure to thrive, Increased hepatocellular lipid droplets, Microvesic...	OMIM:220111
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Congenital hepatic fibrosis	ORPHA:93271
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Inflammation of the large intestine, Neoplasm, Myeloproliferative disorder, Obesity	ORPHA:70591
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Recurrent otitis media, Hepatosplenomegaly, Hepatic steatosis, Failure to thrive, Chronic otitis ...	OMIM:619503
Thyrotoxic Periodic Paralysis	Obesity, Increased intramyocellular lipid droplets, Weight loss	ORPHA:79102
Kallmann Syndrome	Obesity	ORPHA:478
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Desbuquois Dysplasia 2	Truncal obesity	OMIM:615777
Sclerosteosis 1	Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc...	OMIM:269500
Prader-Willi Syndrome	Failure to thrive, Abdominal obesity, Periodontitis, Erysipelas	ORPHA:739
Prader-Willi Syndrome Due To Translocation	Obesity	ORPHA:177907
Meningioma	Neoplasm of the tongue, Intracranial meningioma, Spinal meningioma, Neoplasm of the anterior pitu...	ORPHA:2495
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Obesity, Truncal obesity	ORPHA:466950
Short Stature, Microcephaly, And Endocrine Dysfunction	Truncal obesity	OMIM:616541
Pigmented Nodular Adrenocortical Disease, Primary, 1	Truncal obesity	OMIM:610489
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Truncal obesity	ORPHA:2637
Bardet-Biedl Syndrome 12	Obesity	OMIM:615989
Wiedemann-Rautenstrauch Syndrome	Synovitis, Recurrent otitis media, Hepatic steatosis, Failure to thrive, Recurrent skin infection...	ORPHA:3455
Intellectual Developmental Disorder, Autosomal Dominant 29	Obesity	OMIM:616078
Ulnar-Mammary Syndrome	Obesity	ORPHA:3138
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Obesity, Periodontitis	OMIM:619269
Helsmoortel-Van Der Aa Syndrome	Failure to thrive, Obesity, Truncal obesity	OMIM:615873
Rubinstein-Taybi Syndrome 1	Leukemia, Small for gestational age, Capillary hemangioma, Failure to thrive, Neoplasm, Hepatic h...	OMIM:180849
Craniopharyngioma	Neoplasm of the anterior pituitary, Obesity	ORPHA:54595
White-Kernohan Syndrome	Obesity, Recurrent otitis media	OMIM:619426
Homozygous Familial Hypercholesterolemia	Hepatic steatosis	ORPHA:391665
Combined Oxidative Phosphorylation Deficiency 15	Obesity	OMIM:614947
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Truncal obesity	OMIM:210720
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Obesity	ORPHA:466943
45,X/46,Xy Mixed Gonadal Dysgenesis	Gonadoblastoma, Obesity, Recurrent otitis media, Cervix cancer	ORPHA:1772
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pilomatrixoma, Spinal cord tumor, Meningioma, Failure to thrive, Neoplasm, Otitis media, Pneumoni...	ORPHA:353281
Kabuki Syndrome	Failure to thrive, Obesity	ORPHA:2322
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Obesity	OMIM:618653
Cushing Disease	Recurrent cutaneous fungal infections, Pituitary corticotropic cell adenoma, Truncal obesity, Acn...	ORPHA:96253
Schinzel-Giedion Midface Retraction Syndrome	Thickened cortex of long bones, Sclerosis of skull base, Increased density of long bones	OMIM:269150
17Q24.2 Microdeletion Syndrome	Failure to thrive in infancy, Recurrent otitis media, Truncal obesity	ORPHA:529962
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Obesity, Aspiration pneumonia	ORPHA:444077
Partial Deletion Of The Short Arm Of Chromosome 7	Obesity	ORPHA:261911
Myhre Syndrome	Small for gestational age, Obesity	OMIM:139210
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Failure to thrive, Obesity, Eczema	OMIM:617157
Xq21 Microdeletion Syndrome	Obesity	ORPHA:1435
1P21.3 Microdeletion Syndrome	Obesity	ORPHA:293948
Williams-Beuren Syndrome	Portal hypertension, Obesity, Failure to thrive in infancy, Recurrent otitis media	OMIM:194050
Adnp Syndrome	Truncal obesity	ORPHA:404448
6Q Terminal Deletion Syndrome	Failure to thrive, Obesity	ORPHA:75857
Monosomy 22Q13.3	Obesity, Recurrent pyelonephritis, Recurrent skin infections	ORPHA:48652
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pilomatrixoma, Meningioma, Failure to thrive, Pneumonia, Otitis media, Obesity	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pilomatrixoma, Meningioma, Failure to thrive, Pneumonia, Otitis media, Obesity	ORPHA:353277
Acrodysostosis With Multiple Hormone Resistance	Obesity	ORPHA:280651
Tako-Tsubo Cardiomyopathy	Obesity	ORPHA:66529
Witteveen-Kolk Syndrome	Small for gestational age, Obesity, Eczema	OMIM:613406
Carpenter Syndrome 2	Obesity	OMIM:614976
Chromosome 1P36 Deletion Syndrome, Distal	Obesity	OMIM:607872
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Failure to thrive, Truncal obesity	OMIM:612474
Ulnar-Mammary Syndrome	Obesity	OMIM:181450
Cornelia De Lange Syndrome	Failure to thrive, Blepharitis, Truncal obesity	ORPHA:199
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Obesity	OMIM:309580
Pallister-Killian Syndrome	Obesity	OMIM:601803
Primrose Syndrome	Truncal obesity	OMIM:259050

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 Amfr

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 Amfr.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Amfr^{em1(IMPC)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Amfr^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Amfr^{tm1a(KOMP)Wtsi} Amfr^{tm1a(KOMP)Wtsi}	PMC6459510

Order Mouse and ES Cells

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

This service may be affected by the Covid-19 pandemic. See how

MGI Allele	Allele Type	Produced
Amfr^{em1(IMPC)Wtsi}	Exon Deletion	Mice
Amfr^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Amfr^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us