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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 locomotor activity	Amfr^{tm1a(KOMP)Wtsi}	HET	Early adult	2.41×10^-05
decreased circulating cholesterol level	Amfr^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.23×10^-06
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
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 alanine transaminase level	Amfr^{tm1a(KOMP)Wtsi}	HOM	Early adult	9.01×10^-07
abnormal behavior	Amfr^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.89×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
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	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
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 (1 diseases)
Human diseases predicted to be associated with Amfr (950 diseases)

The table below shows human diseases associated to Amfr by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Spastic Paraplegia 89, Autosomal Recessive		Ataxia	OMIM:620379

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

Disease	Matching phenotypes	Source
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta...	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
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, 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 aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Copper accumulation in liver, Cirrhosis	ORPHA:209919
Sea-Blue Histiocyte Disease	Splenomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:269600
Splenoportal Vascular Anomalies	Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system	OMIM:271500
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczema	OMIM:176090
Cholestasis, Progressive Familial Intrahepatic, 4	Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure	OMIM:615878
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin...	OMIM:214900
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal fibrosis, Hepatic fibrosis...	ORPHA:369
Porphyria Cutanea Tarda	Reduced uroporphyrinogen decarboxylase activity, Cirrhosis, Hepatocellular carcinoma	OMIM:176100
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno...	OMIM:616828
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis	OMIM:613313
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ...	ORPHA:65682
Obesity And Hypopigmentation	Overgrowth, Hepatic steatosis, Obesity	OMIM:620195
Hemochromatosis, Neonatal	Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H...	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 Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin...	OMIM:613759
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Hepatic failure, Cirrhosis, Portal hypertension	OMIM:210050
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Esophageal carci...	ORPHA:139507
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Elevated circulating...	OMIM:601847
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat...	OMIM:602347
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati...	OMIM:607765
Immunodeficiency 56	Cholangitis, Chronic hepatitis due to cryptosporidium infection, Recurrent pneumonia, Bronchiecta...	OMIM:615207
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Diarrhea 13	Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis	OMIM:620357
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly	OMIM:618955
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Prolonged neonatal jaundice	ORPHA:446
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans...	OMIM:278000
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis	OMIM:618400
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin...	OMIM:619484
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Eczema, Decreased liver function, Cirrhosis	ORPHA:79278
Gracile Syndrome	Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration	ORPHA:53693
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s...	OMIM:616829
Hemochromatosis, Type 4	Hepatomegaly, Osteoarthritis, Hepatic steatosis, Cirrhosis	OMIM:606069
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Myeloid leukemia, Leukemia, Cirrhosis	OMIM:614743
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Multiple li...	ORPHA:1414
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Elevated circulatin...	OMIM:613489
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepatosplenomegaly...	OMIM:619858
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate...	ORPHA:90003
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis	OMIM:619111
Hemochromatosis, Type 2A	Splenomegaly, Hepatomegaly, Cirrhosis, Arthritis	OMIM:602390
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Interstitial Lung Disease 2	Alveolar cell carcinoma, Cirrhosis	OMIM:178500
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi...	OMIM:616860
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Failure to thriv...	OMIM:232700
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatic fibrosis	ORPHA:280356
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Chronic hepatitis, Colitis, Cirrhosis, Failure to thrive	OMIM:614602
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Hepatic fibrosis, Obesity, Cholestasis	OMIM:616629
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Splenomegaly, Hepatitis	ORPHA:444463
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Follicu...	OMIM:300635
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis	OMIM:232400
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple...	ORPHA:30391
Galactosemia I	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:230400
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ...	ORPHA:209902
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Mpi-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic...	ORPHA:79319
Morbid Obesity And Spermatogenic Failure	Hepatic steatosis, Obesity	OMIM:615703
Hemochromatosis, Type 3	Elevated hepatic transaminase, Arthritis, Cirrhosis	OMIM:604250
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Congenital Macroglossia	Neurofibroma, Abnormal hepatic glycogen storage	ORPHA:2430
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Glycogen Storage Disease Iv	Portal hypertension, Hepatosplenomegaly, Cirrhosis, Hepatic failure, Failure to thrive	OMIM:232500
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Increased muscle lipid content	OMIM:610717
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Jaundice, Eleva...	OMIM:617049
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ...	ORPHA:69663
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis	OMIM:215600
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Jaundice, Storage in hepatocytes, Intermit...	ORPHA:3111
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa...	ORPHA:263501
Citrullinemia, Type Ii, Neonatal-Onset	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:605814
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Large for gestational age	ORPHA:2432
Nephronophthisis 15	Elevated hepatic transaminase, Obesity	OMIM:614845
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot...	OMIM:246700
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619048
Transaldolase Deficiency	Cirrhosis, Hepatosplenomegaly	ORPHA:101028
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic failure, Failure to thrive	OMIM:602579
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure	OMIM:615630
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Laurence-Moon Syndrome	Congenital hepatic fibrosis, Obesity	ORPHA:2377
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis	ORPHA:436182
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Abnormal ci...	ORPHA:79303
Transaldolase Deficiency	Hepatomegaly, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly...	OMIM:606003
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Abnormal mus...	ORPHA:367
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy...	ORPHA:79230
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:615486
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash...	OMIM:618549
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Intrahe...	OMIM:617093
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Senior-Loken Syndrome	Congenital hepatic fibrosis	ORPHA:3156
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st...	OMIM:615438
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Hepatic failure, Hepatic steatosis	OMIM:617872
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight	ORPHA:890
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:79084
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Refractory Celiac Disease	Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hepatic steatosis, Cirrhosis	ORPHA:363400
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent...	OMIM:618805
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
Joubert Syndrome 9	Hepatic fibrosis	OMIM:612285
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis	OMIM:613280
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age	OMIM:601820
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypocholesterolemia	OMIM:610539
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine...	OMIM:620366
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Conjunctivitis, Elevated gamma-glutamyltransferase level, Cirrhosi...	OMIM:242150
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Hepatic steatosis	ORPHA:26792
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly...	OMIM:251880
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Abnormal cir...	ORPHA:101330
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Increased hepatic glycogen content, Large for gestational age	ORPHA:293964
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Macronodular cirrhosis	OMIM:215250
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Myeloid leukemia, Cirrhosis, Myelodysplasia	OMIM:614742
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep...	OMIM:264470
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Obesity	ORPHA:329249
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Hepatic fibrosis, Portal hypertension	OMIM:617341
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Large for gestational age	OMIM:256450
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Congenital Disorder Of Glycosylation, Type Iih	Interface hepatitis, Elevated serum transaminases during infections, Failure to thrive in infancy...	OMIM:611182
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis	ORPHA:298
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Arthri...	ORPHA:33110
Nephronophthisis 16	Periportal fibrosis, Cholestasis	OMIM:615382
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunc...	OMIM:269200
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Hepatic steatosis	OMIM:608709
Primary Biliary Cholangitis	Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Gastrointestinal inflammation, Abnor...	ORPHA:186
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:235200
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Enteroviral enc...	OMIM:308230
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Immunodeficiency 47	Elevated hepatic transaminase, Hepatomegaly, Accessory spleen, Failure to thrive, Elevated circul...	OMIM:300972
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Adenocarcinoma Of The Esophagus	Esophageal carcinoma, Barrett esophagus, Obesity	ORPHA:99976
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans...	OMIM:256810
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Cirrhosis	OMIM:604367
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Medullary Thyroid Carcinoma	Neoplasm of the skeletal system, Abnormal liver parenchyma morphology, Neoplasm of the lung, Weig...	ORPHA:1332
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Reynolds Syndrome	Hepatomegaly, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, Infectious e...	ORPHA:779
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis	OMIM:613987
Acquired Partial Lipodystrophy	Hepatic steatosis	ORPHA:79087
Congenital Generalized Lipodystrophy	Hepatomegaly, Proportionate tall stature, Cirrhosis, Failure to thrive, Hepatic steatosis	ORPHA:528
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Inflammation of the large...	OMIM:614576
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Congenital Disorder Of Glycosylation, Type Ij	Flexion contracture, Hypoproteinemia	OMIM:608093
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Bardet-Biedl Syndrome 19	Hepatic steatosis, Obesity	OMIM:615996
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis media, Chroni...	ORPHA:169160
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus...	ORPHA:210110
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatic fibrosis,...	OMIM:216360
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ...	ORPHA:47
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr...	OMIM:619377
Beta-Thalassemia Intermedia	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o...	ORPHA:231222
Primary Sclerosing Cholangitis	Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline ...	ORPHA:171
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Failure to thrive, Microvesicular hepatic steatosis, Jaundice, Cho...	OMIM:617156
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen...	ORPHA:228426
Bardet-Biedl Syndrome	Hepatic fibrosis, Obesity	ORPHA:110
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Esophagitis, He...	ORPHA:541423
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis	OMIM:601539
Narcolepsy Type 1	Obesity	ORPHA:2073
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Beta-Thalassemia	Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis	ORPHA:848
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating enzyme concentration or activity, Obesity	ORPHA:171706
Lipodystrophy, Familial Partial, Type 6	Abdominal obesity, Hepatic steatosis	OMIM:615980
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele...	OMIM:619386
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Failure to thr...	ORPHA:79322
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Increased circulating lactate dehydrogenase concentr...	OMIM:600649
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Pancreatitis	ORPHA:79083
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,...	ORPHA:139402
Bardet-Biedl Syndrome 21	Elevated hepatic transaminase, Overweight, Obesity	OMIM:617406
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Weight loss, Arthritis, Cirr...	ORPHA:465508
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Obesity, Increased intramyoc...	ORPHA:98907
Ddost-Cdg	Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis	ORPHA:300536
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Macrocephaly-Intellectual Disability-Autism Syndrome	Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Hepatic steatosis	ORPHA:210548
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Dengue Fever	Hypoproteinemia	ORPHA:99828
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Acute hepatitis, Failure to thrive, Decreased liver function, Hepatomegaly	OMIM:238970
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit...	OMIM:209920
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Hepatocellular necrosis, Periportal fibrosis, Hepatic st...	OMIM:201475
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity	OMIM:309585
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Astrocytoma, Lymphoma, Panniculitis, Cirrhosis, Hepatic steatosis	ORPHA:79086
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis	OMIM:613877
Lichen Planopilaris	Neoplasm of the oral cavity, Hepatitis	ORPHA:525
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l...	OMIM:208085
Mednik Syndrome	Cirrhosis, Hepatic fibrosis, Cholestasis	OMIM:609313
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co...	ORPHA:158061
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di...	OMIM:613404
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis	OMIM:194380
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content	OMIM:261750
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Splenomegaly, Myocarditis, ...	ORPHA:829
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo...	OMIM:261680
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S...	OMIM:619418
Dominant Beta-Thalassemia	Failure to thrive in infancy, Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, Hepatospl...	ORPHA:231226
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Adrenomyodystrophy	Failure to thrive, Hepatic steatosis	ORPHA:977
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Failure to thrive, Hepatic steatosis, Decr...	ORPHA:70472
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Sp...	ORPHA:1454
Bardet-Biedl Syndrome 10	Obesity	OMIM:615987
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Melioidosis	Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti...	ORPHA:31202
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic steatosis, He...	OMIM:231530
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:201450
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Hypocholesterolemia	OMIM:266510
Citrullinemia, Classic	Hepatomegaly, Failure to thrive, Cirrhosis	OMIM:215700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Splenomegaly, Lymphadenitis, Cholestasis, In...	OMIM:615895
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat...	ORPHA:39812
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal...	OMIM:619487
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Meckel Syndrome, Type 6	Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts	OMIM:612284
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:212140
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Eczema, Obesity	ORPHA:3055
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Bardet-Biedl Syndrome 5	Obesity	OMIM:615983
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti...	ORPHA:91138
Syndromic X-Linked Intellectual Disability 7	Obesity	ORPHA:85274
Donohue Syndrome	Severe failure to thrive, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis	OMIM:246200
Congenital Isolated Acth Deficiency	Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis	OMIM:610688
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur...	OMIM:614300
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis	OMIM:615238
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cachexia, Abnormal lactate dehydrogenase level, Decr...	ORPHA:42
Intellectual Developmental Disorder, X-Linked 91	Obesity	OMIM:300577
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
Adams-Oliver Syndrome	Congenital hepatic fibrosis, Failure to thrive, Cirrhosis, Portal hypertension	ORPHA:974
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Nephronophthisis 3	Hepatic fibrosis	OMIM:604387
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Aceruloplasminemia	Abnormal circulating enzyme concentration or activity, Abnormal pancreas morphology, Hepatic fibr...	ORPHA:48818
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Obesity	OMIM:620270
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Summitt Syndrome	Obesity	OMIM:272350
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Failure to thrive	OMIM:304790
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis, Obesity	ORPHA:2206
Gaucher Disease Type 1	Hepatomegaly, Hypersplenism, Splenomegaly, Osteoarthritis, Cirrhosis, Biliary tract obstruction	ORPHA:77259
3-Methylglutaconic Aciduria, Type V	Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas...	OMIM:610198
Griscelli Syndrome	Splenomegaly, Hepatomegaly, Jaundice, Hepatitis	ORPHA:381
Johanson-Blizzard Syndrome	Hypoproteinemia	ORPHA:2315
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati...	OMIM:610199
Beta-Thalassemia Major	Hepatomegaly, Failure to thrive in infancy, Hypersplenism, Splenomegaly, Jaundice, Hepatosplenome...	ORPHA:231214
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly	OMIM:619013
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Elbow flexion contracture, Decreased LDL cholestero...	OMIM:618156
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Chylomicron Retention Disease	Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Failure to thrive, Hepati...	ORPHA:71
Coronary Artery Disease, Autosomal Dominant, 1	Obesity	OMIM:608320
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis	ORPHA:79085
Argininemia	Hepatomegaly, Micronodular cirrhosis, Portal fibrosis, Cholestasis	OMIM:207800
Bardet-Biedl Syndrome 16	Recurrent otitis media, Obesity	OMIM:615993
Joubert Syndrome 8	Hepatomegaly, Obesity, Prolonged neonatal jaundice	OMIM:612291
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality, Obesity, Acne	ORPHA:3191
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Reduced carnitine O-palmitoyltransferase level, Hepa...	ORPHA:228305
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, C...	OMIM:618999
Nephronophthisis 11	Hepatic fibrosis	OMIM:613550
Argininosuccinic Aciduria	Hepatomegaly, Failure to thrive, Hepatic fibrosis, Elevated circulating aspartate aminotransferas...	OMIM:207900
Hardikar Syndrome	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Failure to thrive, Cho...	OMIM:301068
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Simpson-Golabi-Behmel Syndrome, Type 2	Obesity	OMIM:300209
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:277900
Isolated Sedoheptulokinase Deficiency	Cholestasis, Cholestatic liver disease, Hepatitis, Portal hypertension	ORPHA:440713
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alanine aminotransferase concen...	OMIM:615381
Hernández-Aguirre Negrete Syndrome	Obesity	ORPHA:2139
Trichohepatoenteric Syndrome 1	Hepatomegaly, Failure to thrive, Small for gestational age, Abnormality of the pancreas, Jaundice...	OMIM:222470
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Splenomega...	OMIM:276700
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Failure to ...	ORPHA:333
Cystic Fibrosis	Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos...	OMIM:219700
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Hyper...	ORPHA:275761
Syndromic Diarrhea	Hepatomegaly, Small for gestational age, Gastritis, Splenomegaly, Abnormality of the liver, Colit...	ORPHA:84064
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Cirrhotic Cardiomyopathy	Hepatomegaly, Jaundice, Cirrhosis	ORPHA:57777
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Hematological neoplasm, Keratitis, Bronchiectasis, Hepatitis...	ORPHA:1163
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:435651
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Recurrent pneumonia, Trunc...	OMIM:203800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Exocri...	OMIM:616263
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Hypocalcemia, Pat...	OMIM:259700
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	ORPHA:369840
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar...	ORPHA:53
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Failure to thrive, Hepatic stea...	OMIM:229600
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated hepatic transaminase, Micronodular cirrhosis	OMIM:192315
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Obesity	OMIM:613670
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity	ORPHA:140941
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Visceral angiomatosis, Cavernous hemangioma, Cholecystitis, Cirrhosis, Chole...	ORPHA:774
Dyskeratosis Congenita, Autosomal Dominant 2	Failure to thrive, Hepatic fibrosis	OMIM:613989
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib...	ORPHA:731
Dyskeratosis Congenita, Autosomal Dominant 1	Myelodysplasia, Hepatic necrosis, Interstitial pneumonitis, Squamous cell carcinoma of the skin, ...	OMIM:127550
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Overgrowth, Recurrent otitis media	OMIM:605309
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Splenomegaly, Hep...	OMIM:613385
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Obesity, Cholestasis	OMIM:609734
11P15.4 Microduplication Syndrome	Obesity	ORPHA:300305
Congenital Enterovirus Infection	Skin rash, Myocarditis, Hepatitis, Cholestasis, Hepatic failure, Infectious encephalitis	ORPHA:292
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic...	OMIM:608594
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis	OMIM:263210
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Childhood-onset truncal obesity	OMIM:610156
Legionnaires Disease	Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious encephalit...	ORPHA:549
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Obesity	ORPHA:88643
Immunodeficiency 61	Recurrent otitis media, Arthritis, Obesity, Recurrent sinusitis	OMIM:300310
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Disproportionate tall stature, Failure to thrive, Hepatic steatosis, Pancreatitis, Tall stature	OMIM:236200
Xq27.3Q28 Duplication Syndrome	Truncal obesity, Failure to thrive	ORPHA:261483
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Infectious encephalit...	ORPHA:2552
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hepatic fibrosis, Failure to thrive, H...	OMIM:212065
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Failure to thrive, Cirrhosis, Exocrine pancreatic insufficiency	OMIM:616539
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni...	ORPHA:183675
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Obesity, Gout, Hepatic steatosis	ORPHA:412
Acrocephalopolydactylous Dysplasia	Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia	OMIM:200995
Cortisone Reductase Deficiency 1	Acne, Obesity	OMIM:604931
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Os...	OMIM:239000
Bardet-Biedl Syndrome 1	Biliary tract abnormality, Obesity, Truncal obesity, Abdominal obesity, Hepatic fibrosis	OMIM:209900
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Obesity	OMIM:616756
Avian Influenza	Elevated hepatic transaminase, Pneumonia, Hepatitis, Conjunctivitis, Increased circulating lactat...	ORPHA:454836
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Myositis, Psoriasiform dermatitis, Failure to thrive in infancy, E...	ORPHA:37042
Potocki-Lupski Syndrome	Hypocholesterolemia	OMIM:610883
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Increased bone mineral density, Recurrent fractures	OMIM:611490
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Keratoconjunctivitis sicca, Hepatic fibrosis, Cirrho...	ORPHA:14
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic...	OMIM:269700
11Q22.2Q22.3 Microdeletion Syndrome	Hemangioma, Obesity	ORPHA:444002
Autoimmune Hypoparathyroidism	Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi...	ORPHA:36913
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Large for gestational age, Seborrheic dermatitis, Microvesicular hepatic steatosis,...	OMIM:300868
Familial Chylomicronemia Syndrome	Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Decre...	ORPHA:444490
Obesity Due To Melanocortin 4 Receptor Deficiency	Childhood-onset truncal obesity, Obesity	ORPHA:71529
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Chédiak-Higashi Syndrome	Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia	ORPHA:167
Cryptococcosis	Lymphoid leukemia, Osteomyelitis, Pneumonia, Peritonitis, Neoplasm, Cirrhosis, Prostatitis	ORPHA:1546
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase...	ORPHA:99901
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis	OMIM:224230
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis	ORPHA:2031
Schnitzler Syndrome	Arthritis, Increased bone mineral density	ORPHA:37748
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Small for gestational age, Slender build, Portal hypertension, Cho...	OMIM:613658
Cystic Fibrosis	Elevated hepatic transaminase, Sinusitis, Bronchiectasis, Abnormality of the liver, Cirrhosis, Fa...	ORPHA:586
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio...	OMIM:208500
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit...	ORPHA:572
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,...	OMIM:307200
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis	OMIM:614091
Joubert Syndrome 37	Hepatomegaly, Obesity	OMIM:619185
Bardet-Biedl Syndrome 22	Obesity, Large for gestational age	OMIM:617119
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive	OMIM:210200
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Atopic dermatitis, Obesity	OMIM:606772
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic...	OMIM:203700
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure	OMIM:611126
Chromosome 16P13.3 Deletion Syndrome, Proximal	Failure to thrive, Obesity, Polysplenia, Facial hemangioma	OMIM:610543
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Aspir...	OMIM:301072
Bacterial Toxic-Shock Syndrome	Myositis, Sinusitis, Fasciitis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating alkaline phosphatase concentration, Hepatic steatosis	ORPHA:52430
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Overweight, Pustule, Obesity, Uveitis, Cheilitis, Arthritis, Palmo...	ORPHA:247353
Gaisböck Syndrome	Hypertriglyceridemia, Gout, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, H...	ORPHA:90041
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:212138
Mehmo Syndrome	Small for gestational age, Obesity	OMIM:300148
Leptin Deficiency Or Dysfunction	Recurrent pneumonia, Obesity	OMIM:614962
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Decreased liver functi...	ORPHA:415
Arima Syndrome	Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly	OMIM:243910
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan...	ORPHA:98908
Microduplication Xp11.22P11.23 Syndrome	Obesity	ORPHA:217377
Myasthenia Gravis	Rheumatoid arthritis, Myositis, Hepatitis, Hashimoto thyroiditis	ORPHA:589
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:2348
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Splenomegaly, Fulminant hepatitis, Lymphoma, Burkitt lymphoma, Hepatic failure, Inf...	OMIM:308240
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Uveitis, Colitis, Thyroid carcinoma, Hepatomegaly, B-cell lymphoma, Hepatit...	ORPHA:3261
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge...	OMIM:557000
Multiple Myeloma	Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Patho...	ORPHA:29073
Trisomy 5P	Obesity	ORPHA:1742
Bardet-Biedl Syndrome 7	Obesity	OMIM:615984
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis	ORPHA:435660
Chronic Mucocutaneous Candidiasis	Cheilitis, Skin rash, Hepatitis	ORPHA:1334
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Splenomegaly, Lymphoma, Neoplasm, Periodontitis, Cirrhosi...	ORPHA:1775
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis	ORPHA:319218
Diastrophic Dysplasia	Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness	ORPHA:628
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Thymoma, Chronic mucocutaneous c...	ORPHA:227990
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Hepatic necrosis, Decreased 3-hydroxyacyl-C...	ORPHA:71212
Borjeson-Forssman-Lehmann Syndrome	Obesity	OMIM:301900
Cranioectodermal Dysplasia 3	Cirrhosis	OMIM:614099
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Acne, Pituitary adenoma, Increased body weight, Renal cell carcinoma, Abdominal obesity, Hepatic ...	ORPHA:189427
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Tubulo...	OMIM:124000
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ...	OMIM:614856
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:96180
Alagille Syndrome 1	Elevated hepatic transaminase, Failure to thrive, Hepatocellular carcinoma, Cholestasis, Reduced ...	OMIM:118450
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity	OMIM:618725
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Lipoma, Chronic otitis media, Obesity	ORPHA:480907
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	ORPHA:2088
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo...	ORPHA:94089
Mody	Large for gestational age, Overweight, Hepatocellular adenoma, Obesity, Pancreatic hypoplasia, Ex...	ORPHA:552
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, B-cell lymphoma, Chronic...	ORPHA:91139
Mucopolysaccharidosis Type 7	Splenomegaly, Hepatitis	ORPHA:584
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Eczematoid dermatitis, Chroni...	ORPHA:83471
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Thymoma, Chronic mucocutaneous c...	ORPHA:227982
Bardet-Biedl Syndrome 4	Obesity	OMIM:615982
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas...	OMIM:618329
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification	ORPHA:163649
Morm Syndrome	Truncal obesity	ORPHA:75858
Spondyloepiphyseal Dysplasia Tarda	Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os...	ORPHA:93284
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand...	OMIM:240300
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi...	ORPHA:85188
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Elevated hepatic transaminase, Accessory spleen, Portal hypertension, Macronodular cirrhosis, Ele...	OMIM:620005
Temple Syndrome	Small for gestational age, Overweight, Obesity, Truncal obesity, Recurrent otitis media	OMIM:616222
Monosomy 13Q34	Hepatic steatosis, Obesity	ORPHA:96168
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Glomerulonephritis, Hepatosplenom...	ORPHA:470
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Increased body weight, El...	ORPHA:263455
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice	OMIM:231680
19P13.12 Microdeletion Syndrome	Hepatic steatosis, Obesity	ORPHA:254346
Obesity, Hyperphagia, And Developmental Delay	Obesity	OMIM:613886
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Meckel Syndrome 14	Hepatic fibrosis	OMIM:619879
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea...	ORPHA:1782
Spondyloenchondrodysplasia	Enchondroma, Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis	ORPHA:1855
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Abnormal circulating enzyme conce...	ORPHA:348
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver function, Cirrh...	ORPHA:77293
Mehmo Syndrome	Obesity	ORPHA:85282
Summitt Syndrome	Obesity, Tall stature	ORPHA:3210
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Atopic dermatitis, Obesity	ORPHA:397973
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive	OMIM:616672
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegaly, Hepatitis, Atop...	OMIM:615846
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Failure to thrive, Diffuse hepatic steatosis, Decreased liver function	ORPHA:436271
Biemond Syndrome Type 2	Obesity	ORPHA:141333
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Small for gestational age, Neoplasm, Hep...	ORPHA:2959
Blue Diaper Syndrome	Elevated hepatic transaminase, Increased body weight	ORPHA:94086
Late-Onset Isolated Acth Deficiency	Pituitary adenoma, Hepatitis, Weight loss, Failure to thrive, Hashimoto thyroiditis	ORPHA:199299
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Obesity	OMIM:614651
Joubert Syndrome 1	Hepatic fibrosis	OMIM:213300
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc...	OMIM:259710
Aromatase Deficiency	Eunuchoid habitus, Hepatic steatosis, Obesity, Tall stature	ORPHA:91
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Failure to thrive...	OMIM:613327
Chung-Jansen Syndrome	Obesity	OMIM:617991
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia	OMIM:618810
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Interface hepatitis, Psoriasiform dermatitis, Enterocolitis, T-cell lymphoma	OMIM:243150
Secondary Intestinal Lymphangiectasia	Constrictive pericarditis, Lymphoma, B-cell lymphoma, Cirrhosis	ORPHA:90363
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle...	ORPHA:728
Mccune-Albright Syndrome	Cutaneous myxoma, Hepatocellular adenoma, Breast carcinoma, Hepatitis, Cholestasis, Pancreatitis	ORPHA:562
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity	ORPHA:2429
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ...	OMIM:300755
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Carpenter Syndrome	Obesity, Polysplenia	ORPHA:65759
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Infectious encephalitis	ORPHA:319251
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple...	OMIM:266920
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Nodular regenerative hype...	ORPHA:404454
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Obesity	ORPHA:352530
Liver Disease, Severe Congenital	Joint laxity, Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circu...	OMIM:619991
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Hodgkin lymphoma, ...	OMIM:305000
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Papillary cystadenom...	ORPHA:93111
Pearson Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Small for gestational age, Sple...	ORPHA:699
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hepatic steatosis	ORPHA:445038
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Thyroidi...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Thyroidi...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Thyroidi...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Thyroidi...	ORPHA:881
Baralle-Macken Syndrome	Obesity	OMIM:619255
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Hepatic fibrosis, Hamartoma of tongue	OMIM:263520
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Recurrent otitis media, Obesity	ORPHA:254531
Bardet-Biedl Syndrome 2	Obesity	OMIM:615981
Bardet-Biedl Syndrome 8	Obesity	OMIM:615985
Clark-Baraitser Syndrome	Obesity	OMIM:617752
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal...	OMIM:261515
Mitochondrial Trifunctional Protein Deficiency	Diffuse hepatic steatosis, Failure to thrive in infancy, Chronic hepatic failure, Cholestasis	ORPHA:746
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Decreased body weight	OMIM:615273
Xylt1-Cdg	Hepatomegaly, Acne, Truncal obesity	ORPHA:370930
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ...	ORPHA:2331
Acute Disseminated Encephalomyelitis	Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis	ORPHA:83597
Seckel Syndrome 10	Acute pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic steatosi...	OMIM:617253
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Oropharyngeal squamous cell carcinoma, Inflammatory abnormality of the skin, Eczema, Esophageal c...	ORPHA:391487
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Myelodysplasia,...	ORPHA:3260
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Obesity	ORPHA:2233
Rafiq Syndrome	Truncal obesity, Obesity	OMIM:614202
48,Xxyy Syndrome	Chronic otitis media, Lymphoma, Obesity, Tall stature	ORPHA:10
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Obesity	OMIM:300238
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:608836
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity	OMIM:618124
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Obesity	ORPHA:163681
Combined Oxidative Phosphorylation Deficiency 54	Retrobulbar optic neuritis, Obesity	OMIM:619737
Wilson-Turner Syndrome	Truncal obesity	ORPHA:3459
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti...	ORPHA:77297
Hydrocephalus-Obesity-Hypogonadism Syndrome	Obesity	ORPHA:2183
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Cholestasis,...	ORPHA:247598
Prader-Willi Syndrome Due To Imprinting Mutation	Obesity	ORPHA:177910
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic...	OMIM:127000
Gaucher Disease	Hepatomegaly, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Cirrhosis	ORPHA:355
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity	OMIM:616521
Bloom Syndrome	Small for gestational age, Lymphoma, Bronchiectasis, Squamous cell carcinoma, Leukemia, Malar ras...	OMIM:210900
Cranioectodermal Dysplasia 1	Hepatomegaly, Malformation of the hepatic ductal plate, Tubulointerstitial nephritis, Hepatic fib...	OMIM:218330
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Zygomycosis	Fasciitis, Sinusitis, Pericarditis, Gastritis, Hematological neoplasm, Pustule, Myocarditis, Peri...	ORPHA:73263
Osteopathia Striata-Cranial Sclerosis Syndrome	Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular...	ORPHA:2780
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Increased hepa...	OMIM:220110
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis, ...	OMIM:259720
Orofaciodigital Syndrome I	Hamartoma of tongue, Pancreatic cysts, Hepatic fibrosis, Hypothalamic hamartoma, Hepatic cysts	OMIM:311200
Retinitis Pigmentosa	Obesity	ORPHA:791
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Alg12-Cdg	Hyponatremia, Hypoalbuminemia, Abnormal bone ossification, Hypocholesterolemia, Camptodactyly	ORPHA:79324
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H...	OMIM:618476
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Hepatic calcification, Tubulointerstitial nephritis, Reduced carnitine O-palmitoylt...	ORPHA:228308
Combined Immunodeficiency-Enteropathy Spectrum	Psoriasiform dermatitis, Hepatitis, Abnormal ductus choledochus morphology, Hashimoto thyroiditis...	ORPHA:436252
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Osteopetrosis	ORPHA:3240
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, B-cell lymphoma, Pneumonia, Recurrent skin infections, Gastritis, Splen...	OMIM:619381
Obesity Due To Sim1 Deficiency	Obesity	ORPHA:369873
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Truncal obesity, Obesity	OMIM:618363
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Recurrent otitis media, Truncal obesity, Small for gestational age, Obesity	ORPHA:96184
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Obesity, Tall stature	OMIM:618089
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Obesity	ORPHA:254525
Spastic Paraplegia 11, Autosomal Recessive	Obesity	OMIM:604360
14Q11.2 Microduplication Syndrome	Obesity	ORPHA:261229
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Obesity	OMIM:618443
Temple Syndrome	Small for gestational age, Obesity	ORPHA:254516
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alkaline phosphatase concentrat...	OMIM:616026
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Eczema, Facial capillary hemangioma, Splenomegaly, Cholestatic liver disease, Cirrh...	OMIM:270400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Failure to thrive, Abnormal circulating enzyme concentration or activity, Hepatocel...	ORPHA:79259
Pycnodysostosis	Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit...	ORPHA:763
Wagr Syndrome	Obesity	ORPHA:893
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity	OMIM:615633
Microtriplication 11Q24.1	Obesity	ORPHA:289522
Atkin-Flaitz Syndrome	Obesity	ORPHA:1193
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Elevated ...	OMIM:619573
Clark-Baraitser syndrome	Obesity, Tall stature	OMIM:300602
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Obesity	ORPHA:411515
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity	OMIM:618821
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Bacteria...	ORPHA:2072
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619534
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Obesity	ORPHA:3085
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc...	OMIM:224300
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Obesity	ORPHA:464282
6Q16 Microdeletion Syndrome	Obesity	ORPHA:171829
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Truncal obesity, Abdominal obesity	OMIM:618160
Bardet-Biedl Syndrome 3	Obesity	OMIM:600151
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Beta-Mercaptolactate Cysteine Disulfiduria	Obesity	ORPHA:1035
Short-Rib Thoracic Dysplasia 12	Splenomegaly, Hepatomegaly, Periportal fibrosis, Hamartoma of tongue	OMIM:269860
Bardet-Biedl Syndrome 9	Truncal obesity, Obesity	OMIM:615986
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Eczema, Obesity	ORPHA:464288
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Hepatic steatosis	OMIM:616271
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Obesity	OMIM:619854
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Obesity	ORPHA:171839
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
13Q12.3 Microdeletion Syndrome	Chronic otitis media, Atopic dermatitis, Failure to thrive, Obesity	ORPHA:412035
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Truncal obesity	ORPHA:2928
Laurence-Moon Syndrome	Obesity	OMIM:245800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Esophagitis	OMIM:615356
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Desmosterolosis	Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Arthrogryposis multip...	OMIM:602398
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Microvesicular hepatic steatosis	ORPHA:66634
Chromosome 2Q37 Deletion Syndrome	Eczema, Obesity	OMIM:600430
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Lymphoproliferative disorder, Glomerulonephritis, Lymphocytic...	ORPHA:289390
Idiopathic Intracranial Hypertension	Obesity	ORPHA:238624
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Acne, Obesity	ORPHA:77296
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ...	ORPHA:20
Werner Syndrome	Increased bone mineral density, Osteoporosis, Joint stiffness	ORPHA:902
Schwartz-Jampel Syndrome	Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ...	ORPHA:800
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,...	ORPHA:79444
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia	OMIM:241410
Pseudopseudohypoparathyroidism	Obesity	OMIM:612463
Intellectual Developmental Disorder, Autosomal Recessive 13	Truncal obesity	OMIM:613192
X-Linked Intellectual Disability, Stevenson Type	Obesity, Tall stature	ORPHA:85325
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ...	ORPHA:89936
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Obesity	ORPHA:2234
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Macrovesicular hepatic steatosis, Nephritis	OMIM:617303
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis ...	ORPHA:79443
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis	OMIM:615085
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Optic neuritis, Elevated ser...	ORPHA:509
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Eczema, Obesity	OMIM:620191
Schaaf-Yang Syndrome	Failure to thrive in infancy, Obesity	OMIM:615547
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:280365
X-Linked Intellectual Disability, Shashi Type	Obesity	ORPHA:85286
Pigmented Nodular Adrenocortical Disease, Primary, 2	Truncal obesity, Pancreatitis	OMIM:610475
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Obesity	ORPHA:3077
Dysostosis, Stanescu Type	Massively thickened long bone cortices, Increased bone mineral density	ORPHA:1798
Chromosome Xq27.3-Q28 Duplication Syndrome	Abdominal obesity, Small for gestational age	OMIM:300869
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Cornelia De Lange Syndrome 5	Truncal obesity	OMIM:300882
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:17
Camurati-Engelmann Disease	Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi...	OMIM:131300
Combined Oxidative Phosphorylation Deficiency 14	Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra...	OMIM:614946
Intellectual Developmental Disorder, X-Linked 107	Obesity	OMIM:301013
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephroblastoma, Gonadoblastoma, Obesity	OMIM:194072
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Obesity, Tall stature	OMIM:618430
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Truncal obesity	OMIM:300957
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Pancreatitis, Obesity	OMIM:619471
15Q24 Microdeletion Syndrome	Failure to thrive, Small for gestational age, Obesity	ORPHA:94065
Diaphanospondylodysostosis	Abnormal liver lobulation, Nephroblastomatosis	OMIM:608022
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C...	ORPHA:564
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n...	ORPHA:90062
Desmosterolosis	Increased bone mineral density, Osteopetrosis	ORPHA:35107
Megalencephaly	Truncal obesity	ORPHA:2477
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Hepatic steatosis	OMIM:151660
Raine Syndrome	Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation,...	OMIM:259775
Congenital Myopathy 9A	Obesity	OMIM:618822
Pseudohypoparathyroidism, Type Ib	Obesity	OMIM:603233
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Obesity	OMIM:619056
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity	OMIM:601794
Chromosome 3Q29 Duplication Syndrome	Obesity	OMIM:611936
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Obesity, Hepatosplenomegaly, Cholecystitis, Recurrent otitis media, Cholelithiasis	OMIM:301066
Shox-Related Short Stature	Obesity	ORPHA:314795
Laron Syndrome	Truncal obesity, Osteoarthritis	ORPHA:633
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Obesity	ORPHA:363741
Tatton-Brown-Rahman Syndrome	Myeloid leukemia, Neuroendocrine neoplasm, Proportionate tall stature, Obesity	ORPHA:404443
Body Mass Index Quantitative Trait Locus 19	Obesity	OMIM:617885
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Obesity	OMIM:610628
Luscan-Lumish Syndrome	Recurrent otitis media, Overgrowth, Obesity	OMIM:616831
X-Linked Intellectual Disability, Hedera Type	Obesity	ORPHA:93952
Alg9-Cdg	Hepatomegaly, Periportal fibrosis, Hepatic cysts	ORPHA:79328
Acrodysostosis 2 With Or Without Hormone Resistance	Obesity	OMIM:614613
Adiposis Dolorosa	Arthritis, Recurrent skin infections, Obesity	ORPHA:36397
Urban-Rogers-Meyer Syndrome	Obesity	ORPHA:3409
Leptin Receptor Deficiency	Obesity	OMIM:614963
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Hyperoxaluria	OMIM:259900
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia	OMIM:244450
Smith-Magenis Syndrome	Chronic otitis media, Failure to thrive in infancy, Obesity	ORPHA:819
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Overgrowth, Obesity	OMIM:620250
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis	ORPHA:2323
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Obesity	ORPHA:2180
Occipital Horn Syndrome	Jaundice, Hepatitis, Cholestasis, Esophagitis, Exostoses	ORPHA:198
Radio-Tartaglia Syndrome	Hemangioma, Obesity	OMIM:619312
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Johanson-Blizzard Syndrome	Hepatomegaly, Failure to thrive, Small for gestational age, Elevated circulating aspartate aminot...	OMIM:243800
Juvenile Polyposis Syndrome	Hypoproteinemia	ORPHA:2929
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis, Fail...	OMIM:618278
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis	ORPHA:33364
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl...	ORPHA:2658
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Obesity	OMIM:300055
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab...	ORPHA:90652
Poems Syndrome	Sclerosis of hand bone, Sclerosis of skull base, Sclerosis of foot bone	ORPHA:2905
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Abdominal obesity	OMIM:300354
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Ring Chromosome Y Syndrome	Gonadoblastoma, Obesity	ORPHA:261529
Bloom Syndrome	Acute myeloid leukemia, Malignant genitourinary tract tumor, Small for gestational age, Pneumonia...	ORPHA:125
Carpenter Syndrome 1	Obesity, Polysplenia	OMIM:201000
Distal 16P11.2 Microdeletion Syndrome	Obesity	ORPHA:261222
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Abdominal obesity, Hepatic steatosis	OMIM:619321
Desbuquois Dysplasia 1	Osteoarthritis, Obesity	OMIM:251450
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Momo Syndrome	Overgrowth, Obesity, Tall stature, Large for gestational age	ORPHA:2563
Carney Complex	Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ...	ORPHA:1359
Congenital-Onset Steinert Myotonic Dystrophy	Obesity, Decreased body weight	ORPHA:589821
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Truncal obesity	ORPHA:3041
Müllerian Aplasia And Hyperandrogenism	Acne, Obesity	ORPHA:247768
Beckwith-Wiedemann Syndrome	Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Large for gestational age, Adrenocortical carcino...	ORPHA:116
Erdheim-Chester Disease	Xanthelasma, Increased bone mineral density, Osteomyelitis, Osteolysis	ORPHA:35687
Marbach-Schaaf Neurodevelopmental Syndrome	Recurrent otitis media, Obesity	OMIM:619680
Pseudopseudohypoparathyroidism	Obesity	ORPHA:79445
48,Xxxy Syndrome	Chronic otitis media, Obesity, Tall stature	ORPHA:96263
Bardet-Biedl Syndrome 6	Obesity	OMIM:605231
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis	OMIM:619934
Perrault Syndrome 4	Disproportionate tall stature, Obesity	OMIM:615300
12Q14 Microdeletion Syndrome	Osteopoikilosis	ORPHA:94063
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Obesity	OMIM:615418
Alström Syndrome	Elevated hepatic transaminase, Hepatomegaly, Glomerulonephritis, Portal hypertension, Splenomegal...	ORPHA:64
Dubowitz Syndrome	Hypocholesterolemia	OMIM:223370
Man1B1-Cdg	Truncal obesity	ORPHA:397941
2Q37 Microdeletion Syndrome	Nephroblastoma, Eczema, Obesity	ORPHA:1001
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Truncal obesity, Failure to thrive, Small for gestational age	ORPHA:73272
Pde4D Haploinsufficiency Syndrome	Obesity	ORPHA:439822
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Truncal obesity, Failure to thrive, Pancreatitis	OMIM:222700
Xp22.13P22.2 Duplication Syndrome	Truncal obesity	ORPHA:284180
Proprotein Convertase 1/3 Deficiency	Obesity	OMIM:600955
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis	OMIM:259730
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Obesity, Abdominal obesity	OMIM:219090
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Jaundice, Obesity	OMIM:614231
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased body weight	OMIM:615954
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Limitation of joint...	ORPHA:79474
Distal Deletion 12Q	Late onset atopic dermatitis, Failure to thrive in infancy, Pituitary adenoma, Biliary atresia, O...	ORPHA:96149
Chops Syndrome	Splenomegaly, Obesity, Aspiration pneumonia	OMIM:616368
Momo Syndrome	Overgrowth, Obesity	OMIM:157980
Mosaic Trisomy 9	Asplenia, Abnormal liver lobulation	ORPHA:99776
Telangiectasia, Hereditary Hemorrhagic, Type 2	Hepatic arteriovenous malformation, Cirrhosis	OMIM:600376
Ataxia-Oculomotor Apraxia 4	Obesity	OMIM:616267
Bardet-Biedl Syndrome 17	Obesity	OMIM:615994
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Obesity	ORPHA:98855
Rabin-Pappas Syndrome	Overgrowth, Obesity, Failure to thrive in infancy	OMIM:620155
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Osteomyelitis, Overweight, Jaundice, Neurofibroma, Obesity, Otitis...	OMIM:619475
Down Syndrome	Obesity, Acute megakaryocytic leukemia	ORPHA:870
Angelman Syndrome Due To A Point Mutation	Obesity	ORPHA:411511
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Disproportionate tall stature, Abdominal obesity	OMIM:301039
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
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Insulin-Resistance Syndrome Type B	Skin rash, Abnormality of body weight, Pneumonia, Osteoarthritis, Lymphoma, Increased body weight...	ORPHA:2298
Bdv Syndrome	Obesity	OMIM:619326
Gaucher Disease Type 3	Increased bone mineral density, Osteolysis, Increased susceptibility to fractures	ORPHA:77261
Wagro Syndrome	Nephroblastoma, Multiple exostoses, Obesity	OMIM:612469
Den Hoed-De Boer-Voisin Syndrome	Overweight, Obesity, Decreased body weight	OMIM:619229
1P36 Deletion Syndrome	Abnormality of the spleen, Annular pancreas, Obesity, Abnormality of the liver, Neuroblastoma, Fa...	ORPHA:1606
Pseudohypoparathyroidism, Type Ic	Obesity	OMIM:612462
White-Sutton Syndrome	Failure to thrive, Obesity	OMIM:616364
Acth-Independent Macronodular Adrenal Hyperplasia	Truncal obesity, Neoplasm	OMIM:219080
Obesity Due To Congenital Leptin Deficiency	Obesity	ORPHA:66628
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatit...	ORPHA:319213
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Recurrent pneumonia, Obesity	OMIM:618493
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Pseudohypoparathyroidism, Type Ia	Obesity	OMIM:103580
Obesity Due To Leptin Receptor Gene Deficiency	Obesity	ORPHA:179494
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures	OMIM:612301
Peripartum Cardiomyopathy	Myocarditis, Obesity	ORPHA:563
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Truncal obesity	ORPHA:3224
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Obesity	ORPHA:261197
Sarcoidosis	Hepatomegaly, Maculopapular exanthema, Portal hypertension, Erythema nodosum, Bronchiectasis, Uve...	ORPHA:797
Kleefstra Syndrome Due To 9Q34 Microdeletion	Failure to thrive, Obesity	ORPHA:96147
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Obesity	ORPHA:251004
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity	OMIM:608624
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints	ORPHA:50945
Sim1-Related Prader-Willi-Like Syndrome	Abdominal obesity, Failure to thrive, Obesity	ORPHA:398079
Angelman Syndrome	Obesity	OMIM:105830
Primary Hyperoxaluria	Generalized osteosclerosis, Hyperoxaluria, Recurrent fractures	ORPHA:416
Narcolepsy 7	Obesity	OMIM:614250
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Obesity	ORPHA:98794
Abdominal Obesity-Metabolic Syndrome 4	Obesity	OMIM:618620
Achondroplasia	Obesity	ORPHA:15
Borjeson-Forssman-Lehmann Syndrome	Truncal obesity	ORPHA:127
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Obesity	OMIM:617296
Telangiectasia, Hereditary Hemorrhagic, Type 1	Hepatic arteriovenous malformation, Cirrhosis	OMIM:187300
X-Linked Intellectual Disability, Cabezas Type	Obesity, Cachexia	ORPHA:85293
Kleefstra Syndrome 1	Obesity	OMIM:610253
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Hypocalcemia,...	ORPHA:667
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Kleefstra Syndrome	Chronic otitis media, Obesity	ORPHA:261494
Insulin-Like Growth Factor I, Resistance To	Truncal obesity, Decreased body weight	OMIM:270450
Diamond-Blackfan Anemia 21	Obesity, Osteosarcoma	OMIM:620072
Cohen Syndrome	Small for gestational age, Childhood-onset truncal obesity	OMIM:216550
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Digeorge Syndrome	Acne, Seborrheic dermatitis, Splenomegaly, Recurrent pneumonia, Obesity, Recurrent sinusitis, Rec...	OMIM:188400
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Hypocalcemia, Recurrent fractures, Elevated circulating creatine kinase concentration	ORPHA:2785
Septo-Optic Dysplasia Spectrum	Obesity	ORPHA:3157
Williams Syndrome	Osteopenia, Joint laxity, Increased bone mineral density, Abnormal circulating lipid concentratio...	ORPHA:904
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Prader-Willi Syndrome	Abdominal obesity, Failure to thrive in infancy, Obesity	OMIM:176270
Angelman Syndrome	Obesity	ORPHA:72
Cohen Syndrome	Failure to thrive in infancy, Obesity	ORPHA:193
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Obesity	ORPHA:2235
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:619127
Autosomal Recessive Spastic Paraplegia Type 11	Overweight, Obesity	ORPHA:2822
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Acne, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplas...	ORPHA:99889
3Q29 Microduplication Syndrome	Obesity	ORPHA:251038
22Q11.2 Deletion Syndrome	Acne, Seborrheic dermatitis, Splenomegaly, Obesity, Arthritis, Chronic otitis media, Cholelithias...	ORPHA:567
White-Sutton Syndrome	Obesity	ORPHA:468678
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Failure to thrive, Small for gestational age, Obesity	ORPHA:98754
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low alkaline phosphatase, Obesity	ORPHA:369837
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Recurrent otitis media, Obesity	OMIM:250420
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Failure to thrive, Small for gestational age, Obesity	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Failure to thrive, Small for gestational age, Obesity	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Failure to thrive, Small for gestational age, Obesity	ORPHA:177901
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Ganglioneuroblastoma, Obesity, Infectious encephalitis, Ganglioneu...	ORPHA:293987
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Failure to thrive, Eczema, Obesity, Seborrheic dermatitis	ORPHA:369950
Ogden Syndrome	Eczema, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Recurrent o...	OMIM:300855
Webb-Dattani Syndrome	Obesity	OMIM:615926
Abdominal Obesity-Metabolic Syndrome 3	Truncal obesity, Abdominal obesity	OMIM:615812
7Q11.23 Microduplication Syndrome	Chronic otitis media, Obesity	ORPHA:96121
Microcephalic Primordial Dwarfism, Dauber Type	Obesity	ORPHA:319675
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Abnormal liver parenchyma morphology, Hepatic fibros...	ORPHA:79318
Magel2-Related Prader-Willi-Like Syndrome	Abdominal obesity, Failure to thrive, Increased body weight	ORPHA:398069
Sheehan Syndrome	Obesity, Hashimoto thyroiditis	ORPHA:91355
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Failure to thrive, Sma...	OMIM:220111
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Portal hypertension, Atopic dermatitis, Cholestasis, Hepatosplenomegaly, Recurrent otitis media, ...	OMIM:619503
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Obesity, Inflammation of the large intestine, Neoplasm, Myeloproliferative disorder	ORPHA:70591
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Congenital hepatic fibrosis	ORPHA:93271
Thyrotoxic Periodic Paralysis	Obesity, Increased intramyocellular lipid droplets, Weight loss	ORPHA:79102
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Kallmann Syndrome	Obesity	ORPHA:478
Prader-Willi Syndrome Due To Translocation	Obesity	ORPHA:177907
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Truncal obesity, Obesity	ORPHA:466950
Sclerosteosis 1	Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc...	OMIM:269500
Desbuquois Dysplasia 2	Truncal obesity	OMIM:615777
Prader-Willi Syndrome	Abdominal obesity, Failure to thrive, Periodontitis, Erysipelas	ORPHA:739
Short Stature, Microcephaly, And Endocrine Dysfunction	Truncal obesity	OMIM:616541
Meningioma	Neoplasm of the anterior pituitary, Neurofibroma, Obesity, Neoplasm of the skin, Spinal meningiom...	ORPHA:2495
Intellectual Developmental Disorder, Autosomal Dominant 29	Obesity	OMIM:616078
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	Recurrent skin infections, Slender build, Synovitis, Recurrent otitis media, Failure to thrive, H...	ORPHA:3455
Ulnar-Mammary Syndrome	Obesity	ORPHA:3138
Helsmoortel-Van Der Aa Syndrome	Truncal obesity, Failure to thrive, Obesity	OMIM:615873
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Periodontitis, Obesity	OMIM:619269
Craniopharyngioma	Obesity, Neoplasm of the anterior pituitary	ORPHA:54595
Rubinstein-Taybi Syndrome 1	Accessory spleen, Small for gestational age, Papillary cystadenoma of the epididymis, Truncal obe...	OMIM:180849
White-Kernohan Syndrome	Recurrent otitis media, Obesity	OMIM:619426
Combined Oxidative Phosphorylation Deficiency 15	Obesity	OMIM:614947
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Pilomatrixoma, Spinal cord tumor, Obesity, Neoplasm, Otitis media, Failure to thrive, ...	ORPHA:353281
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Obesity	ORPHA:466943
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Truncal obesity	OMIM:210720
45,X/46,Xy Mixed Gonadal Dysgenesis	Recurrent otitis media, Cervix cancer, Gonadoblastoma, Obesity	ORPHA:1772
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Obesity	OMIM:618653
Kabuki Syndrome	Failure to thrive, Obesity	ORPHA:2322
Cushing Disease	Acne, Pituitary corticotropic cell adenoma, Increased body weight, Recurrent cutaneous fungal inf...	ORPHA:96253
17Q24.2 Microdeletion Syndrome	Recurrent otitis media, Truncal obesity, Failure to thrive in infancy	ORPHA:529962
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Obesity, Aspiration pneumonia	ORPHA:444077
Schinzel-Giedion Midface Retraction Syndrome	Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones	OMIM:269150
Myhre Syndrome	Small for gestational age, Obesity	OMIM:139210
Xq21 Microdeletion Syndrome	Obesity	ORPHA:1435
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Failure to thrive, Eczema, Obesity	OMIM:617157
Homozygous Familial Hypercholesterolemia	Hepatic steatosis	ORPHA:391665
1P21.3 Microdeletion Syndrome	Obesity	ORPHA:293948
Adnp Syndrome	Truncal obesity	ORPHA:404448
Monosomy 22Q13.3	Recurrent pyelonephritis, Recurrent skin infections, Obesity	ORPHA:48652
Williams-Beuren Syndrome	Recurrent otitis media, Failure to thrive in infancy, Obesity, Portal hypertension	OMIM:194050
6Q Terminal Deletion Syndrome	Failure to thrive, Obesity	ORPHA:75857
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Pilomatrixoma, Obesity, Otitis media, Failure to thrive, Meningioma	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Pilomatrixoma, Obesity, Otitis media, Failure to thrive, Meningioma	ORPHA:353277
Tako-Tsubo Cardiomyopathy	Obesity	ORPHA:66529
Witteveen-Kolk Syndrome	Eczema, Small for gestational age, Obesity	OMIM:613406
Carpenter Syndrome 2	Obesity	OMIM:614976
Chromosome 1P36 Deletion Syndrome, Distal	Obesity	OMIM:607872
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Truncal obesity, Failure to thrive	OMIM:612474
Ulnar-Mammary Syndrome	Obesity	OMIM:181450
Cornelia De Lange Syndrome	Truncal obesity, Failure to thrive, Blepharitis	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
Spastic Paraplegia 89, Autosomal Recessive	Ataxia	OMIM:620379

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.

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

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