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Gene: Nr1h4 MGI:1352464

Gene Summary

Name:

nuclear receptor subfamily 1, group H, member 4

Synonyms:

Fxr, RIP14, HRR1, FXR, Rxrip14

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased mean corpuscular volume	Nr1h4^Nr1h4	HOM	Early adult	6.76×10^-07
increased startle reflex	Nr1h4^Nr1h4	HOM	Early adult	9.30×10^-06
increased circulating triglyceride level	Nr1h4^Nr1h4	HOM	Early adult	3.07×10^-13
increased circulating HDL cholesterol level	Nr1h4^Nr1h4	HOM	Early adult	5.25×10^-12
decreased locomotor activity	Nr1h4^Nr1h4	HOM	Early adult	2.02×10^-05
decreased circulating serum albumin level	Nr1h4^Nr1h4	HOM	Early adult	8.14×10^-10
increased circulating cholesterol level	Nr1h4^Nr1h4	HOM	Early adult	1.87×10^-22
decreased prepulse inhibition	Nr1h4^Nr1h4	HOM	Early adult	4.30×10^-05
increased circulating alanine transaminase level	Nr1h4^Nr1h4	HOM	Early adult	1.15×10^-22
increased lactate dehydrogenase level	Nr1h4^Nr1h4	HOM	Early adult	2.12×10^-06
abnormal tail movements	Nr1h4^Nr1h4	HOM	Early adult	1.70×10^-05
increased circulating alkaline phosphatase level	Nr1h4^Nr1h4	HOM	Early adult	3.95×10^-26
increased circulating aspartate transaminase level	Nr1h4^Nr1h4	HOM	Early adult	6.53×10^-22

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nr1h4 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 Nr1h4 (2 diseases)
Human diseases predicted to be associated with Nr1h4 (1552 diseases)

The table below shows human diseases associated to Nr1h4 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cholestasis, Progressive Familial Intrahepatic, 5		Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:617049
Intrahepatic Cholestasis Of Pregnancy		Elevated hepatic transaminase, Small for gestational age, Skin rash, Abnormality of the pancreas,...	ORPHA:69665

The table below shows human diseases predicted to be associated to Nr1h4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Proteasome-Associated Autoinflammatory Syndrome 5	Fever, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Proximal Myopathy With Focal Depletion Of Mitochondria	Elevated circulating creatine kinase concentration	OMIM:600706
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc...	OMIM:612526
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	OMIM:615703
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:620010
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:610717
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo...	OMIM:231100
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	ORPHA:94124
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta...	ORPHA:324575
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71526
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester...	OMIM:616516
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	OMIM:607250
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipi...	ORPHA:1414
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno...	OMIM:214900
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, H...	ORPHA:172
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly	ORPHA:294
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome...	ORPHA:79301
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-...	OMIM:278000
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomega...	OMIM:300635
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy...	ORPHA:329249
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f...	ORPHA:64753
Hemophagocytic Lymphohistiocytosis, Familial, 4	Fever, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin...	OMIM:603552
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Truncal ataxia, Limb ataxia, ...	OMIM:208920
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I...	ORPHA:3111
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Congenital Generalized Lipodystrophy	Hepatomegaly, Prominent superficial veins, Diabetes mellitus, Lipodystrophy, Hypertriglyceridemia...	ORPHA:528
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ...	ORPHA:158057
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Lipase Deficiency, Combined	Hypertriglyceridemia, Pancreatitis	OMIM:246650
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation...	ORPHA:276580
Hemophagocytic Lymphohistiocytosis, Familial, 3	Fever, Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Increased C...	ORPHA:276575
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala...	OMIM:605911
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:604367
Wolman Disease	Fever, Hepatomegaly, Cachexia, Splenomegaly, Ascites, Steatorrhea, Hepatic failure	ORPHA:75233
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Increa...	OMIM:607616
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n...	ORPHA:79234
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Glossoptos...	OMIM:614876
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged n...	OMIM:619256
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet...	OMIM:615381
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Increased C-peptide level, Hypogl...	ORPHA:276556
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Membranoproliferative glomerulonephritis, Polycystic ovaries, Progressive loss...	OMIM:608709
Edinburgh Malformation Syndrome	Jaundice, Failure to thrive, Neonatal hyperbilirubinemia	OMIM:129850
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co...	OMIM:262400
Neonatal Hemochromatosis	Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increase...	ORPHA:446
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia	OMIM:613752
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato...	ORPHA:101330
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Hypergalactosemia, F...	OMIM:230350
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He...	OMIM:235555
Diarrhea 13	Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis, Hypoalbuminemia	OMIM:620357
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Cholangiocarcinoma	Biliary tract neoplasm, Acholic stools, Jaundice, Anorexia	ORPHA:70567
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov...	ORPHA:79084
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ...	ORPHA:890
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Dystonia, Hypercho...	OMIM:616267
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i...	ORPHA:363400
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res...	OMIM:615980
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re...	OMIM:613877
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex...	ORPHA:905
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru...	OMIM:211600
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality	OMIM:237500
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase conc...	OMIM:619048
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc...	OMIM:246700
Galactokinase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Small for gestational age, H...	ORPHA:79237
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a...	OMIM:227810
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper...	OMIM:151660
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Increased bo...	ORPHA:264580
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir...	OMIM:251880
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hypoglycemia, Hyperlipidemia, Osteoporos...	ORPHA:369
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hypertriglyceridemia, Hepatic failure	OMIM:177000
Combined Oxidative Phosphorylation Deficiency 34	Fever, Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Increased ...	OMIM:617872
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated c...	OMIM:619386
Hepatoportal Sclerosis	Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Portal hypertension, Intrahepatic portal vei...	ORPHA:64743
Graft Versus Host Disease	Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Stiff interphalangeal...	ORPHA:39812
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:79333
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Multiple Symmetric Lipomatosis	Hepatomegaly, Joint stiffness, Insulin resistance, Multiple lipomas, Abnormal adipose tissue morp...	ORPHA:2398
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hypertriglyceridemia, Lipodystrophy, Ele...	OMIM:613327
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa...	ORPHA:263501
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia	OMIM:245900
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:79235
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h...	ORPHA:567983
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli...	OMIM:618549
Galactosemia Iv	Hypergalactosemia, Prolonged neonatal jaundice	OMIM:618881
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Fever, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosp...	OMIM:613101
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:42
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenome...	OMIM:612714
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ...	ORPHA:71
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Splenomegaly, Hepatitis	ORPHA:444463
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Weight loss	ORPHA:79238
Galactosemia Ii	Hypergalactosemia, Prolonged neonatal jaundice	OMIM:230200
Acquired Partial Lipodystrophy	Lipoatrophy, Progeroid facial appearance, Insulin resistance, Lymphocytosis, Hepatic steatosis	ORPHA:79087
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S...	OMIM:602347
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Elevated hepatic transamina...	OMIM:608594
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia, Jaundice	OMIM:237450
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Obesity And Hypopigmentation	Hepatic steatosis, Hyperinsulinemia, Polyphagia, Obesity	OMIM:620195
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:613404
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome...	ORPHA:30391
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Soft tissue sarcoma, Fever, Weight loss	ORPHA:2023
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Small for gestational age, Elevated circulating aspartate aminotransferase concentr...	OMIM:617093
Rft1-Cdg	Hepatomegaly, Failure to thrive	ORPHA:244310
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,...	ORPHA:2924
Alg6-Cdg	Abnormal circulating enzyme concentration or activity, Puberty and gonadal disorders, Jaundice, D...	ORPHA:79320
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Crigler-Najjar Syndrome, Type Ii	Jaundice, Unconjugated hyperbilirubinemia	OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia, Jaundice	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Lambert Syndrome	Inguinal hernia, Intrahepatic biliary atresia, Jaundice	OMIM:245550
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated l...	OMIM:269920
Mantle Cell Lymphoma	Fever, Splenomegaly, B-cell lymphoma, Weight loss	ORPHA:52416
Citrullinemia Type Ii	Elevated hepatic transaminase, Restlessness, Hyperactivity, Hepatomegaly, Decreased HDL cholester...	ORPHA:247585
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level	OMIM:609016
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated g...	ORPHA:53035
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Flexion contracture, High palate, Hyperglycemia, Calcinosis, Hepatomegaly, Lipodystro...	OMIM:248370
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Acholic stools, Cholestatic liver...	ORPHA:65682
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Elevated circulating aspartate aminotransferase concentration, Hypothermia, Elevated circulating ...	OMIM:245400
Crigler-Najjar Syndrome, Type I	Jaundice, Unconjugated hyperbilirubinemia	OMIM:218800
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Idiopathic Congenital Hypothyroidism	Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulating hormon...	ORPHA:95717
Coproporphyria, Hereditary	Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor...	OMIM:121300
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Elevated hepatic transamina...	OMIM:269700
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta...	ORPHA:158061
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Hyper...	ORPHA:79083
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi...	OMIM:301045
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop...	ORPHA:83469
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Ddost-Cdg	Elevated hepatic transaminase, Osteopenia, Lipodystrophy, Gastroesophageal reflux, Primary hypoth...	ORPHA:300536
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea...	ORPHA:2137
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Fever, Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Weight loss	ORPHA:86893
Cystinosis	Portal hypertension, Malabsorption, Nephrogenic diabetes insipidus, Hypothyroidism, Rickets, Hypo...	ORPHA:213
Patent Ductus Venosus	Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia	OMIM:601466
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb...	OMIM:277900
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Progeroid facial appearance, Insulin resi...	ORPHA:79086
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:617049
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia	OMIM:143500
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79239
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h...	ORPHA:26792
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly	ORPHA:158
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Carcinoid Syndrome	Elevated hepatic transaminase, Hepatic necrosis, Pulmonary carcinoid tumor, Small intestine carci...	ORPHA:100093
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit...	OMIM:616050
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Hypoalbuminemia, Microcytic anemia	OMIM:618805
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Lipod...	ORPHA:2348
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase...	OMIM:614300
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Bi...	OMIM:615710
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Card...	OMIM:201475
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic...	OMIM:619013
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Galactose Mutarotase Deficiency	Abnormal circulating enzyme concentration or activity, Hepatomegaly, Cholestasis, Hypergalactosem...	ORPHA:570422
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Osteomyelitis, Sinusitis, Abnormality of the tonsils, Skin...	ORPHA:47
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:615158
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:26793
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Episcleritis, Craniosynostosis, Puber...	ORPHA:525731
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Lambert Syndrome	Inguinal hernia, Failure to thrive in infancy, Jaundice, Cholestasis, Intrahepatic biliary atresia	ORPHA:1296
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Neonatal insuli...	ORPHA:1667
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Hyperlipoproteinemia, Type Id	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Primary Sclerosing Cholangitis	Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, He...	ORPHA:171
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency	OMIM:614278
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l...	OMIM:208085
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Go...	ORPHA:95716
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Incre...	OMIM:174050
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Vipoma	Anorexia, Benign gastrointestinal tract tumors, Hepatomegaly, Follicular thyroid carcinoma, Inter...	ORPHA:97282
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransf...	ORPHA:2088
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic steatosis, He...	OMIM:231530
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Mic...	OMIM:617156
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attentio...	ORPHA:210548
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypothermia, Bile duct proliferation, Macrovesicular hepatic steat...	OMIM:618329
Temple Syndrome	Decreased testicular size, Hypertriglyceridemia, Small for gestational age, Maturity-onset diabet...	OMIM:616222
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Thromboc...	ORPHA:858
Pulmonary Blastoma	Fever, Pleuropulmonary blastoma, Weight loss	ORPHA:64741
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia, Histiocy...	OMIM:209950
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Elevated circulating hexacosanoic acid concentration, Jaundice, Epiphyseal stipplin...	OMIM:614872
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta...	OMIM:619484
Somatostatinoma	Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic...	ORPHA:97283
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hy...	OMIM:610199
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ...	OMIM:264470
Babesiosis	Hepatomegaly, Hemolytic anemia, Anorexia, Splenomegaly, Jaundice, Limitation of joint mobility, L...	ORPHA:108
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Elevated circulating creatine kinase concentration	OMIM:160570
O'Donnell-Luria-Rodan Syndrome	Aggressive behavior, Cryptorchidism, Self-injurious behavior, Skin-picking, Prolonged neonatal ja...	OMIM:618512
Progressive Nodular Histiocytosis	Fever, Cachexia	ORPHA:158022
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr...	OMIM:277460
Familial Hemophagocytic Lymphohistiocytosis	Colitis, Hypoalbuminemia, Neutropenia, Ecchymosis, Infectious encephalitis, Hepatomegaly, Maculop...	ORPHA:540
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb...	ORPHA:95715
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Dubin-Johnson Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology, Jaundice, Biliar...	ORPHA:234
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hyponat...	ORPHA:199299
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Premature graying of hair, Increased intraabdominal fat,...	ORPHA:280365
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Hyponatremia, Myositis, Pericarditis, Anorexia, Cachex...	ORPHA:3452
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Recurrent...	ORPHA:444490
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Hypertriglyceridemia, Hodgkin lymphoma	OMIM:620282
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,...	ORPHA:131
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Dysbetalipoproteinemia	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl...	OMIM:614921
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Cyanosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration...	OMIM:261680
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Portal hypertension, Celiac disease, Conjugated hyperbi...	ORPHA:186
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Otitis media, R...	OMIM:608971
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ...	ORPHA:199296
Ppoma	Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic...	ORPHA:97278
Autosomal Agammaglobulinemia	Osteomyelitis, Sinusitis, Skin rash, Recurrent skin infections, Malabsorption, Neutropenia, Hepat...	ORPHA:33110
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:212140
Primary Myelofibrosis	Fever, Hepatomegaly, Portal hypertension, Cachexia, Hematological neoplasm, Splenomegaly, Low-gra...	ORPHA:824
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Reduced red cell pyruvate kinase level, Splenomegaly, Elevated tra...	ORPHA:766
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Hypochromic mi...	ORPHA:440713
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Plethora, Increased body weight, Glucose intolerance, Hepatic steatosis, Acne, Osteoporosis, Incr...	ORPHA:189427
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis...	ORPHA:298
Congenital Disorder Of Glycosylation, Type Iih	Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta...	OMIM:611182
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Ele...	OMIM:232800
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Fever, Increased...	OMIM:603553
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ...	ORPHA:507
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi...	ORPHA:829
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Cardiomegaly, Increased muscle lipid content,...	OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Refractory anemia with ringed sideroblasts, L...	OMIM:133180
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver	ORPHA:1980
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	OMIM:205400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis,...	ORPHA:37042
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st...	OMIM:615438
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Macroorchidism, Hypercholesterol...	ORPHA:90674
Congenital Pancreatic Cyst	Jaundice, Pancreatitis, Anorexia	ORPHA:313906
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-ob...	ORPHA:1333
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly	ORPHA:46532
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Premature gr...	ORPHA:79477
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Neutropenia, Hypoplastic anem...	OMIM:557000
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pyloric stenosis, Jaundice, Hepatitis, Ly...	ORPHA:381
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act...	OMIM:203800
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating enzyme concentration or activity, Elevated circulating thyroid-stimulating h...	ORPHA:171706
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:232400
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ...	OMIM:256810
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ...	OMIM:147480
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Glucagonoma	Anorexia, Hepatomegaly, Necrolytic migratory erythema, Acanthocytosis, Intermittent jaundice, Inc...	ORPHA:97280
Senior-Boichis Syndrome	Elevated hepatic transaminase, Portal hypertension, Aggressive behavior, Malformation of the hepa...	ORPHA:84081
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula...	OMIM:605479
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Increased circulating ferritin concentration, Jaundice, Splenomegaly, Hepatitis, Ch...	OMIM:194380
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Multicentric Reticulohistiocytosis	Fever, Cachexia	ORPHA:139436
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Reticulocytosis, Thrombocytosis, Osteomyelitis, Microcytic ...	ORPHA:232
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy...	ORPHA:913
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Cyanosis, Transient Neonatal	Hepatomegaly, Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ...	ORPHA:2126
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Scarring alop...	ORPHA:59303
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva...	OMIM:611881
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Failure to thriv...	OMIM:617591
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Grfoma	Anorexia, Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Int...	ORPHA:97261
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypothermia, Elevated circulating acylcarnitine conc...	ORPHA:159
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit...	ORPHA:98907
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Thyroid Hemiagenesis	Thyroid agenesis, Macroglossia, Jaundice, Umbilical hernia	ORPHA:95719
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase, Hand tremor	OMIM:604484
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Macroglossia, Jaundice, Umbilical hernia, Hypothyroidism	ORPHA:2349
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Small for gestational age, Skin rash, Abnormality of the pancreas,...	ORPHA:69665
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Chronic hepatitis...	OMIM:614602
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi...	ORPHA:228426
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Reduced bone mineral density, Gastroesophageal reflux, High palate, Hypocalcemia, Hyp...	OMIM:613658
Diencephalic Syndrome	Neoplasm of the nervous system, Cachexia, Decreased body weight	ORPHA:1672
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Reduced level of N-ac...	OMIM:224120
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Increased ser...	OMIM:614972
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d...	OMIM:201400
Immunodeficiency 56	Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori...	OMIM:615207
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula...	ORPHA:470
Inflammatory Pseudotumor Of The Liver	Fever, Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-...	ORPHA:90003
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Immunodeficiency 43	Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat...	OMIM:241600
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy...	OMIM:304790
Legionnaires Disease	Hyponatremia, Pericarditis, Anorexia, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditi...	ORPHA:549
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Immunodeficiency 47	Elevated hepatic transaminase, Hepatomegaly, Accessory spleen, Failure to thrive, Decreased circu...	OMIM:300972
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hepatic st...	ORPHA:79259
Type 1 Diabetes Mellitus	Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po...	OMIM:222100
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes	ORPHA:464370
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Recurrent fracture...	OMIM:619377
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614727
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Elevated circulating long chain fatty acid concentration, Hyperbil...	OMIM:614886
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Hemoglobin H Disease	Splenomegaly, Hepatomegaly	OMIM:613978
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,...	OMIM:619418
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly	OMIM:606445
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Myeloproliferative disorder	OMIM:607685
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl...	OMIM:613385
Mccune-Albright Syndrome	Gastroesophageal reflux, Aneurysmal bone cyst, Benign gastrointestinal tract tumors, Hyperthyroid...	ORPHA:562
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Reni Syndrome	Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Ataxia	OMIM:617575
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Type I diabetes mellitus, Anemia	ORPHA:290
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Incr...	OMIM:616299
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failu...	OMIM:238970
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O...	ORPHA:77296
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Precocious puberty, Obesity, High palate, Recurrent otitis ...	ORPHA:254531
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Eosinophilia, Anorexia, Pneumonia, Recurrent pneumonia, Hepatitis, Eryt...	ORPHA:169160
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Fever, Hypothermia, Jaundice, Li...	ORPHA:20
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hepatic fibrosis, Hypoalbumine...	ORPHA:14
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Incre...	OMIM:500009
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Cronkhite-Canada Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Hamartomatous polyposis, Neoplasm	ORPHA:2930
Reynolds Syndrome	Hepatomegaly, Telangiectasia of the skin, Skin rash, Abnormal gastric mucosa morphology, Jaundice...	ORPHA:779
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Sandhoff Disease	Splenomegaly, Hepatomegaly, Abnormal glycosphingolipid metabolism, Failure to thrive	ORPHA:796
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm...	ORPHA:562639
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Hypothermia, Prolonged neonatal jaundice	ORPHA:226313
Combined Oxidative Phosphorylation Deficiency 21	Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Large for gestational age	ORPHA:2432
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia	OMIM:616483
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas...	ORPHA:369873
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Osteopenia, Multiple joint contractures,...	ORPHA:2959
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Intention trem...	OMIM:254900
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Mirizzi Syndrome	Elevated hepatic transaminase, Anorexia, Pancreatitis, Jaundice, Elevated circulating alkaline ph...	ORPHA:521219
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Aggressive behavior, Cryptorchidism, Jaundice, Flexion contracture...	OMIM:608093
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Maculo...	ORPHA:822
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc...	OMIM:224100
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Recurrent fractures, Splenomegaly, Primary hyperparathyr...	OMIM:239200
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Small for gestational age, Elevated circulating creatine kinase concentration, Hy...	OMIM:618775
Primary Erythromelalgia	Leukemia, Hypothermia	ORPHA:90026
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Congenital Enterovirus Infection	Fever, Fetal ascites, Hypothermia, Hepatitis, Hyperammonemia, Cholestasis, Hypoalbuminemia, Hepat...	ORPHA:292
Rhabdoid Tumor	Fever, Renal neoplasm, Hypercalcemia, Weight loss, Neoplasm of the central nervous system, Neopla...	ORPHA:69077
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle...	OMIM:614654
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Pyloric sten...	ORPHA:96184
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, High palat...	OMIM:251290
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Gastroesophageal reflux, Decreased liver f...	ORPHA:70472
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Recurrent aphthous stomatitis,...	OMIM:616622
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,...	ORPHA:79319
Immunodeficiency 48	Splenomegaly, Hepatomegaly, Eczematoid dermatitis, Pneumonia	OMIM:269840
Hypothyroidism Due To Tsh Receptor Mutations	Thyroid hypoplasia, Increased circulating thyroglobulin level, Goiter, Delayed proximal femoral e...	ORPHA:90673
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia, Polyphagia, Obesity	OMIM:618406
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated hepatic transaminase, Increased serum pyruvate, Small for gestational age, Hypoglycemia,...	OMIM:615160
Mu-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Fever, Weight loss	ORPHA:100024
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:614887
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre...	OMIM:261750
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Increased circulat...	ORPHA:79230
Majeed Syndrome	Fever, Hepatomegaly, Cachexia, Splenomegaly, Weight loss, Failure to thrive	ORPHA:77297
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Failure to thrive	ORPHA:2089
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Hepatomegaly, Ascites, Weight loss	ORPHA:2198
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypothermia	OMIM:615026
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Diabetes mellitus, Pyloric stenosis, Jaundice, Hypothyroidism, Apl...	ORPHA:93111
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Abnormality of temperature regulation, Weight loss	ORPHA:42642
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki...	ORPHA:26791
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Calcinosis, Erythema no...	OMIM:613471
Aredyld Syndrome	Splenomegaly, Hepatomegaly, Refractory anemia with ringed sideroblasts, Cachexia	ORPHA:1133
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Cutis marmorata, Limitation of joint mobility, Osteoporosis, Hyperhomocystinemia...	OMIM:236200
Hydroxykynureninuria	Jaundice	OMIM:236800
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly	ORPHA:33574
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, ...	OMIM:243150
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Cutis marmorata, Splenomegaly, Medias...	ORPHA:91138
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Laron Syndrome	Hypoglycemia, Prematurely aged appearance, Abnormality of the endocrine system, Osteoarthritis, T...	ORPHA:633
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Saccharopinuria	Tremor, Hypercystinemia, Hyperammonemia, Gait ataxia, Abnormality of circulating enzyme level, El...	ORPHA:3124
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia	OMIM:610539
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Sarcoma, Weight loss	ORPHA:66661
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulati...	ORPHA:99901
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase co...	OMIM:277700
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia	OMIM:608104
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunc...	OMIM:269200
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep...	OMIM:619685
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Hyperinsulinemic Hypoglycemia, Familial, 1	Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo...	OMIM:256450
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc...	ORPHA:98908
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hyperammonemia	ORPHA:35
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca...	OMIM:235200
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Joint laxity, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, ...	ORPHA:541423
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Jaundice,...	OMIM:229600
Leigh Syndrome	Hepatocellular necrosis	OMIM:256000
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,...	ORPHA:3363
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating phytanic acid concent...	OMIM:266510
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Osteopenia, Hypergonadotropic hypog...	OMIM:212065
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Hyp...	OMIM:619991
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate...	OMIM:617253
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia	ORPHA:2494
Rabson-Mendenhall Syndrome	Fasting hyperinsulinemia, Premature graying of hair, High palate, Fasting hypoglycemia, Hypothyro...	ORPHA:769
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Pericarditis, ...	OMIM:619487
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Osteoporosis, Truncal...	ORPHA:73272
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:212138
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Hepatic failure, Protein-losing enteropathy, Hepatic fibrosis, Cir...	OMIM:602579
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Decreased ...	OMIM:240300
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Joint cont...	OMIM:214110
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Fat malabsorption, ...	ORPHA:731
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Increased blood urea nitrogen, Hyperisoleucinemia, Hyperleucinemi...	OMIM:620085
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:608779
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Porphyria, Congenital Erythropoietic	Osteopenia, Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Osteolysis, Corneal scarring,...	OMIM:263700
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Splenomegaly...	OMIM:170100
Gaisböck Syndrome	Plethora, Diabetes mellitus, Hypertriglyceridemia, Peptic ulcer, Overweight, Splenomegaly, Increa...	ORPHA:90041
Adrenomyodystrophy	Primary adrenal insufficiency, Reduced bone mineral density, Abnormal intestine morphology, Failu...	ORPHA:977
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Velopharyngeal insufficien...	OMIM:182290
Tuberculosis	Fever, Weight loss	ORPHA:3389
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Cardio...	ORPHA:57777
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes insipidus, Chilblains, Splenomegaly, Thromb...	OMIM:225750
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased se...	OMIM:602390
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Crigler-Najjar Syndrome	Jaundice, Abnormality of the liver, Infectious encephalitis	ORPHA:205
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Splenom...	OMIM:259720
Preeclampsia	Elevated hepatic transaminase, Helicobacter pylori infection, Increased body mass index, Small fo...	ORPHA:275555
Bardet-Biedl Syndrome 19	Patent ductus arteriosus, Hepatic steatosis, Obesity	OMIM:615996
Malaria	Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
19P13.12 Microdeletion Syndrome	Hyperactivity, Craniosynostosis, Precocious puberty, Hypothyroidism, Hyperlipidemia, Cryptorchidi...	ORPHA:254346
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating branched chain am...	ORPHA:2394
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hepatomegaly, Failure to thrive, Hyperglutamatemia, Hypoglycemia, Hyperalaninem...	ORPHA:3008
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio...	OMIM:231680
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Absence of lymph node germinal center, ...	OMIM:308230
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Decreased li...	OMIM:246900
Lichen Planopilaris	Neoplasm of the oral cavity, Hepatitis	ORPHA:525
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto t...	ORPHA:227990
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p...	OMIM:613038
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:91547
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Cirrhosis,...	OMIM:613490
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Abnormality of the liver, Mildly elevated creatine kinase, Decreased circulating ca...	ORPHA:254864
Galactosemia I	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:230400
Cirrhosis, Familial	Fulminant hepatitis, Jaundice, Esophageal varix, Biliary cirrhosis, Micronodular cirrhosis, Incre...	OMIM:215600
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Fever, Liver abscess, Elevated circulating C-reactive protein conc...	ORPHA:54251
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, High palate, Elevated gamma-glutamyltransferase level, Intrahepati...	OMIM:614866
Moynahan Syndrome	Cachexia	ORPHA:2574
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Myasthenia Gravis	Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Primary adrenal insufficiency...	ORPHA:589
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con...	ORPHA:399
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit...	ORPHA:139402
Central Diabetes Insipidus	Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus	ORPHA:178029
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointe...	ORPHA:227982
Aromatase Deficiency	Eunuchoid habitus, Osteopenia, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enla...	ORPHA:91
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia,...	ORPHA:2298
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Decreased liver function	OMIM:614870
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal...	ORPHA:79124
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine...	OMIM:277410
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Increased erythrocyte protoporphyrin conce...	OMIM:300752
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Anorexia, Elevated circulating al...	ORPHA:370348
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ...	ORPHA:276608
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphoma, Hypocalcemia, Ascites	ORPHA:100025
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Intestinal perforation, Hematemesis, Thrombocytopen...	ORPHA:464321
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase...	ORPHA:98855
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Peptic ulcer, Hypercalcemia, Testicular neoplasm, Primary hyperparathy...	ORPHA:143
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Allan-Herndon-Dudley Syndrome	Small for gestational age, Failure to thrive in infancy, Abnormality of thyroid physiology, Crypt...	ORPHA:59
Sepsis In Premature Infants	Hepatomegaly, Cyanosis, Small for gestational age, Elevated circulating C-reactive protein concen...	ORPHA:90051
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir...	ORPHA:36234
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:619573
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy...	OMIM:242150
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:615486
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Decreased fumarate hydratase acti...	OMIM:606812
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Dysphagia, Failure to ...	OMIM:618958
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Fever, Hypertriglyceridemia, Increased circulating f...	ORPHA:158048
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia	OMIM:201450
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperpro...	OMIM:619064
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Failure to thrive, Hyperammonemia	ORPHA:28
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Osteolysis, Increased susceptibility to fract...	ORPHA:52430
Autosomal Erythropoietic Protoporphyria	Eczema, Microcytic anemia, Abnormal circulating porphyrin concentration, Erythema, Decreased live...	ORPHA:79278
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Weight loss, Lymphade...	ORPHA:1332
Zellweger Syndrome	Hepatomegaly, Very long chain fatty acid accumulation, Malabsorption, Pyloric stenosis, Jaundice,...	ORPHA:912
Classic Hodgkin Lymphoma	Fever, Hepatomegaly, Splenomegaly, Lymphoma, Weight loss, Neoplasm	ORPHA:391
Primary Intestinal Lymphangiectasia	Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia...	ORPHA:90362
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis...	ORPHA:100086
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ...	OMIM:209920
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytope...	ORPHA:391487
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Elevated circulating C-...	ORPHA:676
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Jejuno...	ORPHA:436252
Melioidosis	Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti...	ORPHA:31202
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:17
Follicular Lymphoma	Abnormal peritoneum morphology, Fever, Splenomegaly, Lymphoma, Weight loss	ORPHA:545
Kaposi Sarcoma	Fever, Lymphoproliferative disorder, Abnormality of the spleen, Neoplasm by anatomical site, Weig...	ORPHA:33276
Mitochondrial Dna-Associated Leigh Syndrome	Fever, Hepatomegaly, Failure to thrive, Hypothermia, Abnormality of Krebs cycle metabolism, Low p...	ORPHA:255210
Nephroblastoma	Fever, Weight loss, Neoplasm of the lung, Neoplasm of the liver, Neoplasm, Nephroblastoma	ORPHA:654
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Pneumonia,...	ORPHA:90790
Idiopathic Achalasia	Decreased prealbumin level, Weight loss	ORPHA:930
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Anorexia, Elevated circulating C-reactive...	OMIM:619381
Bachmann-Bupp Syndrome	Hypoglycemia, Aggressive behavior, Large for gestational age, Cryptorchidism, High palate, Attent...	OMIM:619075
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Skin rash, Cholestasis	OMIM:105200
Hyperbiliverdinemia	Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis	OMIM:614156
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Unconjugated hyperbilirubine...	OMIM:300908
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin...	OMIM:613095
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia	OMIM:618660
Klatskin Tumor	Fever, Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Gastroesophageal reflux, Elevated gamma-glutamyltransferase level, Hepatic ste...	OMIM:619525
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:617950
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Flexion contracture, Esophageal...	ORPHA:367
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Delayed thelarche, Delayed ...	OMIM:616033
Perlman Syndrome	Hepatomegaly, Inguinal hernia, Femoral hernia, High, narrow palate, Cryptorchidism, Abnormal panc...	ORPHA:2849
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis...	ORPHA:75563
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase...	ORPHA:98863
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Recurrent pneumonia, Obesity, Hypogonadism, Polyphagia, Decreased testicu...	OMIM:614962
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Peptic ulcer, Hypercalcemia, Testicular neoplasm, Primary hyperparathy...	ORPHA:99880
Congenital Macroglossia	Neurofibroma, Abnormal hepatic glycogen storage	ORPHA:2430
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hy...	OMIM:600955
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip...	OMIM:606721
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase...	ORPHA:98853
Isolated Osteopoikilosis	Increased bone mineral density, Abnormally ossified vertebrae, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Mucopolysaccharidosis Type 7	Inguinal hernia, Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling, Umbilical hernia...	ORPHA:584
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Lymphopenia, Decreased proportion of naive T cells, Chronic oral candidiasis, Recur...	ORPHA:276
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Neuroendocrine neoplasm, Neoplasm of the larynx, Weight ...	ORPHA:100083
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Cryptorchidism, Flexion contracture, Obesity, Gastroes...	OMIM:615547
Dyskeratosis Congenita, Autosomal Dominant 1	Myelodysplasia, Hepatic necrosis, Interstitial pneumonitis, Squamous cell carcinoma of the skin, ...	OMIM:127550
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, In...	OMIM:613839
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia	ORPHA:156
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fib...	OMIM:246200
Isolated Congenital Hypoglossia/Aglossia	Hamartoma, Weight loss	ORPHA:141152
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp...	ORPHA:171876
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Diabetes mellitus, Necrolytic migratory erythema, Zollinger-Ellison syn...	ORPHA:438274
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi...	ORPHA:226316
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Prominent superficial veins, Decreased adipose tiss...	OMIM:608612
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev...	OMIM:616433
Bardet-Biedl Syndrome 9	Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia	OMIM:615986
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin...	ORPHA:293987
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive	OMIM:613861
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom...	OMIM:607625
Rh Deficiency Syndrome	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Abnormal CD4:CD8 ratio, Autoimmu...	ORPHA:572
Castleman Disease	Abnormality of the gastrointestinal tract, Myelofibrosis, Intestinal obstruction, Generalized lym...	ORPHA:160
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss	ORPHA:1979
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Low choleste...	OMIM:257220
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Elevated circulatin...	OMIM:613489
3-Methylglutaconic Aciduria, Type V	Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas...	OMIM:610198
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia, Abnormal rectum morphology, Hernia, Hiatus hernia	ORPHA:101009
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Cachexia, Ascites, Hypoalbuminemia, Failure to thrive	OMIM:610965
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomegaly, Stiff interphalangeal joints, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogona...	ORPHA:465508
Autoimmune Lymphoproliferative Syndrome	Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion o...	ORPHA:3261
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Goiter, Elevated circulating thyroid-sti...	ORPHA:99832
Gaucher Disease	Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Osteomyelitis, Recurrent ...	ORPHA:355
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Ne...	ORPHA:73263
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly	OMIM:618224
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Laryngeal carcinoma, Carcinoma	OMIM:610644
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia	OMIM:614741
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hypercalcemia, Hemangiomatosis, Visceral angiomatosis, Patent ductus arteriosus, As...	ORPHA:2123
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Diabetes mellitus, Foot joint contracture, Achilles tendon contracture, Aplasia/Hyp...	ORPHA:456312
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente...	ORPHA:284
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture...	OMIM:616263
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Autoimmune thrombocytopenia, O...	ORPHA:77293
Combined Malonic And Methylmalonic Acidemia	Elevated hepatic transaminase, Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Failu...	ORPHA:289504
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Familial Atrial Myxoma	Cardiomegaly, Jaundice, Cholestasis, Bacterial endocarditis, Ascites	ORPHA:615
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Premature graying...	ORPHA:79474
Mucopolysaccharidosis-Plus Syndrome	Inability to walk, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Neutropenia, Anemia	OMIM:617303
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Small for gestational age, Thrombocytosis, Increased mean platelet...	OMIM:222470
Mcdonough Syndrome	Cachexia	ORPHA:2471
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Joint stiffness, Precocious puberty, Hypothyr...	ORPHA:819
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Hypoglycemia, Recurrent skin infections, Malabsorption, Herpes simplex encephalitis...	OMIM:233600
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Hepatomegaly	OMIM:603902
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Jaundice, Low plasma citrulline, Hyperammonemia, Hyperprolinemia...	OMIM:615751
Idiopathic Bronchiectasis	Fever, Cachexia	ORPHA:60033
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysp...	OMIM:219800
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ...	ORPHA:411593
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Hypothyroidism, Hepatic steatosis, Hepatomegaly,...	OMIM:615846
Pleural Mesothelioma	Hepatomegaly, Weight loss	ORPHA:50251
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypocalcem...	OMIM:606407
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia	ORPHA:93941
Timothy Syndrome	Patent ductus arteriosus, Hypocalcemia, Hypothermia, Cardiomegaly	OMIM:601005
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Gastroesophageal reflux, Femoral hernia, Scarring, Osteomalacia,...	ORPHA:198
Hereditary Fructose Intolerance	Hepatomegaly, Reduced circulating aldolase concentration, Reactive hypoglycemia, Jaundice, Hyperm...	ORPHA:469
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Angioedema, Leuko...	ORPHA:3260
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Abnormality...	ORPHA:2552
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Very long chain fatty acid accumulation,...	OMIM:261515
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Microvesicular hepatic steatosis, Reduced bone mineral density, Hypotriglyceridemia, Hepatomegaly...	ORPHA:404454
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea...	ORPHA:415
Apparent Mineralocorticoid Excess	Hypokalemia, Abnormality of circulating cortisol level, Left ventricular hypertrophy, Polydipsia,...	ORPHA:320
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Lymphoma, Recurrent pneumonia, Bronchiectasis, Neoplasm, Conjunctivit...	OMIM:240500
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Malabsorption...	ORPHA:83471
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Hypercholesterolemia, Pancreatitis, Obesity	OMIM:619471
Aspergillosis	Osteomyelitis, Sinusitis, Eosinophilia, Pneumonia, Keratitis, Hepatitis, Bronchiectasis, Neutrope...	ORPHA:1163
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Liver abscess, Diabetes mellitus, Cholangitis, Psoriasiform d...	ORPHA:183675
Gitelman Syndrome	Maternal diabetes, Glucose intolerance, Iron deficiency anemia, Tubulointerstitial nephritis, Hyp...	ORPHA:358
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly, Pyloric stenosis, Hyperammonemia, Hepatic failure	ORPHA:664
Christianson Syndrome	Cachexia	ORPHA:85278
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Gastroesophageal reflux...	OMIM:619534
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Joint laxity, Cholangitis, Craniosy...	OMIM:613610
Sotos Syndrome	Joint laxity, Aggressive behavior, High, narrow palate, Cryptorchidism, Increased body weight, Na...	OMIM:117550
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Hyponatremia, Fever, Elevated circulating creatine kinase concentr...	ORPHA:94093
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms, Gastroesophageal reflux, Hyperbilirubinemia	OMIM:301094
Hemochromatosis, Type 3	Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc...	OMIM:604250
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct morphology, Papi...	ORPHA:363618
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98793
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating C-reacti...	OMIM:619644
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Portal vein hypoplasia, Ascites	OMIM:619433
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Elevated circulating creatine kinase concentration, Cachexia	ORPHA:1933
Spontaneous Periodic Hypothermia	Hypothermia	ORPHA:29822
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia	ORPHA:401923
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177904
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Malabsorption,...	ORPHA:537
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypouricemia, Large...	OMIM:616026
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia	ORPHA:1438
Cimdag Syndrome	Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis	OMIM:619273
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98754
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Decreased acid ceramidase activity, Failure to thrive, Recurrent fever	OMIM:228000
Mitochondrial Complex I Deficiency, Nuclear Type 13	Fever, Hepatomegaly, Failure to thrive	OMIM:618235
Hereditary Central Diabetes Insipidus	Polydipsia, Diabetes insipidus, Weight loss	ORPHA:30925
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Patent ductus arteriosus, Hypothermia	OMIM:616501
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo...	ORPHA:167
Griscelli Syndrome Type 1	Hyperlipidemia, Ataxia	ORPHA:79476
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Bilateral cryptorchidism, Repetitive compulsive behavior, Microves...	ORPHA:66634
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Developmental And Epileptic Encephalopathy 78	Hypothermia	OMIM:618557
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Flexion contracture, Xerostomia, Increased body weight, Gastroesophageal reflux, Comp...	ORPHA:398069
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Hepatomegaly	OMIM:618852
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Erysipelas, Elevated circulating creatine kinase concentration	OMIM:615704
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hepatomegaly, Chilblains	OMIM:615010
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:85414
Amoebiasis Due To Entamoeba Histolytica	Leukocytosis, Hypoalbuminemia, Anemia	ORPHA:67
Nephronophthisis-Like Nephropathy 2	Polydipsia, Elevated circulating creatinine concentration, Bronchiectasis	OMIM:619468
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Hyperalaninemia	OMIM:266150
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive	OMIM:613561
Familial Cold Urticaria	Erythema, Urticaria, Arthritis, Conjunctivitis, Polydipsia	ORPHA:47045
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypothermia	OMIM:610006
Deafness-Lymphedema-Leukemia Syndrome	Fever, Hepatomegaly, Splenomegaly, Acute leukemia, Weight loss, Myeloproliferative disorder	ORPHA:3226
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Elevated circulating c...	ORPHA:542323
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Melena, Leuk...	ORPHA:319218
Sialuria	Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Attention d...	ORPHA:3166
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Leukocytosis, Addictive alcohol use, Left ventricular hypertrophy, Hypercholeste...	ORPHA:90065
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney	OMIM:615285
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79332
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ...	ORPHA:403
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hypertriglyceridemia, Elevated hemoglobi...	OMIM:619127
Renal Glucosuria	Polydipsia, Polyphagia, Glycosuria	OMIM:233100
Propionic Acidemia	Hepatomegaly, Pancytopenia, Hypoglycemia, Eczema, Thrombocytopenia, Osteoporosis, Hyperammonemia,...	OMIM:606054
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Xerostomia, Premature adrenarche, Hypothalamic luteinizing hormone-releasing hormone ...	ORPHA:398079
Renpenning Syndrome	Cachexia	ORPHA:3242
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:251274
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Neoplasm of t...	ORPHA:2584
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypothermia, Jaundice, Hyperammonemia, Hyperhomocystin...	ORPHA:79282
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Hypercalcemia, Abnormal dental enamel morphology, Crani...	ORPHA:251004
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp...	OMIM:232220
Bardet-Biedl Syndrome 22	Hypogonadism, Polyphagia, Obesity, Large for gestational age	OMIM:617119
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an...	ORPHA:1959
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t...	ORPHA:79644
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphoma, Leukemia	OMIM:614470
Wolfram Syndrome	Gastrointestinal hemorrhage, Diabetes mellitus, Malabsorption, Joint stiffness, Abnormal mesenter...	ORPHA:3463
14Q11.2 Microduplication Syndrome	Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism	ORPHA:261229
Congenital Erythropoietic Porphyria	Osteopenia, Anisocytosis, Increased stool urobilinogen concentration, Scarring alopecia of scalp,...	ORPHA:79277
Panhypophysitis	Hyponatremia, Decreased serum testosterone concentration, Decreased circulating cortisol level, R...	ORPHA:95513
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Steatorrhea	ORPHA:3217
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Skin rash, Hepatomegaly	OMIM:601979
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Overlap Myositis	Elevated hepatic transaminase, Diabetes mellitus, Elevated circulating creatine kinase concentrat...	ORPHA:206572
Metachromatic Leukodystrophy	Gallbladder dysfunction, Cholecystitis	OMIM:250100
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Osteo...	OMIM:232200
Menkes Disease	Decreased circulating ceruloplasmin concentration, Hypothermia	OMIM:309400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Nabais Sa-De Vries Syndrome, Type 1	Self-injurious behavior, Prolonged neonatal jaundice	OMIM:618828
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Alagille Syndrome 1	Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,...	OMIM:118450
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Adrenal hypoplasia, Protruding tongue, High, narro...	OMIM:214100
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Hypercalcemia, Pituitary null cell adenoma, Neoplasm of the thymus...	ORPHA:97289
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Decreased beta-glucocerebrosidase level, Decreased body weight	OMIM:231000
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Hamartomatous polyposis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
East Syndrome	Salt craving, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia,...	ORPHA:199343
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Left ventricular hyp...	ORPHA:746
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Uveitis, Leukopenia, H...	ORPHA:99826
Heme Oxygenase 1 Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614034
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Prolonged neonatal jaundice, Dysphagia	OMIM:618868
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Abnormal intestine morphology, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatosplenomegaly	OMIM:610333
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Diabetes insipidus, Elevated amniotic fluid alpha-fetoprotein, Prolonged neonatal jaundice, Sever...	ORPHA:423479
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Hepatic failure, T...	OMIM:611126
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c...	OMIM:614576
Septo-Optic Dysplasia Spectrum	Anterior pituitary hypoplasia, Maternal diabetes, Esophageal atresia, Cryptorchidism, Tracheoesop...	ORPHA:3157
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Hematological neoplasm, Splenomegaly, Elevated ...	ORPHA:98848
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:203700
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Skin rash, Retroper...	ORPHA:35687
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Meningococcal Meningitis	Fever, Hypothermia, Elevated circulating C-reactive protein concentration	ORPHA:33475
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia, Jaundice	OMIM:301015
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Anemia, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnit...	ORPHA:89842
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy...	OMIM:603903
Developmental And Epileptic Encephalopathy 75	Decreased liver function, Prolonged neonatal jaundice	OMIM:618437
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:300842
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul...	ORPHA:2169
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Peroxisome Biogenesis Disorder 6B	Delayed menarche, Elevated circulating phytanic acid concentration, Decreased liver function, Pro...	OMIM:614871
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Degcags Syndrome	Osteopenia, Oral-pharyngeal dysphagia, Premature graying of hair, Leukopenia, Iron deficiency ane...	OMIM:619488
Intellectual Developmental Disorder, Autosomal Dominant 39	Self-mutilation, Polyphagia, Obesity, Aggressive behavior	OMIM:616521
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Tenorio Syndrome	Osteopenia, Joint laxity, Hypoglycemia, Recurrent pneumonia, Macroglossia, Keratoconjunctivitis s...	OMIM:616260
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, ...	OMIM:276700
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly	ORPHA:79292
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Fever, Weight loss	ORPHA:33577
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Al Amyloidosis	Howell-Jolly bodies, Increased circulating NT-proBNP concentration, Hypoalbuminemia, Anemia	ORPHA:85443
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Lymphoproliferative Syndrome 2	Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphoma, Recurrent pneumonia, EBV ence...	OMIM:615122
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia	OMIM:616672
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Hypothermia	OMIM:614498
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Zollinger-El...	ORPHA:276152
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Lymphoproliferative disorder, Elevated circulating aspartate aminotransferase conce...	OMIM:615559
Infantile Refsum Disease	Very long chain fatty acid accumulation, Hepatomegaly, Failure to thrive, Elevated circulating ph...	ORPHA:772
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co...	ORPHA:94086
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypopl...	ORPHA:453533
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Jaundice, Hepa...	ORPHA:319251
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra...	OMIM:609015
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:608799
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hypothyroidism, Bone marrow hypocellularity, Infection associated ...	ORPHA:445038
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Hyperammonemia, Failure to thrive, Pancreatitis	ORPHA:79312
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Abnormality of temperature regulation, Obesity, Hypothermia	OMIM:618493
Infantile Krabbe Disease	Abnormal circulating enzyme concentration or activity, Cachexia, Unexplained fevers, Temperature ...	ORPHA:206436
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Xerostomia, Periodontitis, Pre...	ORPHA:739
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, J...	OMIM:208500
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In...	ORPHA:210136
Menkes Disease	Gastrointestinal hemorrhage, Inguinal hernia, Osteomyelitis, Hypoglycemia, Recurrent fractures, T...	ORPHA:565
Neuhauser Syndrome	Osteopenia, High palate, Primary hypothyroidism, Dysphagia, Hypercholesterolemia, Bifid uvula	OMIM:249310
Leber Congenital Amaurosis 1	Hepatomegaly, Hyperthreoninemia	OMIM:204000
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Stomatitis, Eczema, Celiac disease, Osteoporosi...	OMIM:212750
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, ...	ORPHA:90062
Ogden Syndrome	Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Iron deficiency anemia, High p...	OMIM:300855
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Bronchiectasis, Arthritis, Recurrent otitis medi...	ORPHA:397596
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Obesity, Hypogonadotropic hypogonadism	ORPHA:177910
Crimean-Congo Hemorrhagic Fever	Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Conjunctivi...	ORPHA:99827
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Glioblastoma multiforme, Ben...	ORPHA:440437
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614859
Shigellosis	Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Paralytic ileus, Con...	ORPHA:810
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Polyphagia, Hyperactivity, Inappropriate laughter, Obesity	ORPHA:411515
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,...	ORPHA:90363
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pulmonary carcinoid tumor, Weight loss, Increased circulating cortisol level, Hepat...	ORPHA:97287
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Abn...	OMIM:214500
Cebalid Syndrome	High palate, Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Monosomy 13Q34	Hypercalcemia, Insulin resistance, Obesity, Hematochezia, Hepatic steatosis	ORPHA:96168
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Intestinal perforation, Pancreatitis, Rectal prolapse, Peritonitis...	ORPHA:90038
Lassa Fever	Jaundice, Conjunctivitis, Dysphagia	ORPHA:99824
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,...	OMIM:307200
3-Methylglutaconic Aciduria, Type Viib	Thrombocytopenia, Flexion contracture, Recurrent pneumonia, Leukopenia, Neutropenia, Hepatic stea...	OMIM:616271
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated hepatic transaminase, Impaired glucose tolerance, Elevated circulating creatine kinase c...	OMIM:610131
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, High palate, Tics, Compulsive behaviors, Otitis media, Abnormal repetitive m...	OMIM:619475
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h...	ORPHA:35878
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Arthritis	ORPHA:37748
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal dental enamel morphology, Erythema, Cheilitis, Hepatitis	ORPHA:1334
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Failure to thrive, Recurrent fever, Elevated circulating C-reactive protein concent...	OMIM:619423
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recur...	OMIM:607594
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Hyperaldosteronism, Dexamethasone-s...	ORPHA:369929
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Osteopenia, Diabetes mellitus, Cryptorchidism, Jaundice, Obesity, ...	OMIM:614231
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia, Elevated g...	OMIM:243800
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Hypothyroidism, Joint hyperflexibility, High palate, Hypercholesterolemia, Abnormal r...	ORPHA:2479
Tetrasomy 12P	Cachexia	ORPHA:884
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Leukopenia, Tubulointerstitia...	OMIM:251000
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Rectal prolapse, Insulin res...	ORPHA:508
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Increased circulating lactate dehydrogenase concentration, Hypercholesterolemi...	OMIM:309000
Pancreatic Colipase Deficiency	Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi...	ORPHA:309108
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Letterer-Siwe Disease	Seborrheic dermatitis, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocyto...	OMIM:246400
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Tangier Disease	Left ventricular hypertrophy, Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly	ORPHA:31150
6Q16 Microdeletion Syndrome	Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Nephronophthisis 11	Polydipsia, Hepatic fibrosis, Anemia	OMIM:613550
Focal Myositis	Fever, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Rhizomelic Chondrodysplasia Punctata, Type 2	Decreased circulating plasmalogen concentration, Failure to thrive	OMIM:222765
Alg12-Cdg	Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia	ORPHA:79324
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Multiple joint contractures, Lipoatrophy, Diabetes melli...	ORPHA:51
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circulating renin level	OMIM:613677
Distal Xq28 Microduplication Syndrome	Impulsivity, Aggressive behavior, Self-biting, Stereotypical body rocking, High palate, Attention...	ORPHA:293939
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Failure to thrive,...	ORPHA:436271
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Failure to thrive	OMIM:615085
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Acute hyperammonemia, Myelodysplasia, Hyperglutaminemia, Hyperammonemia, Hyperalani...	ORPHA:927
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Cholelithiasis, Aggressive behavior, Precocious puberty, Limited elbo...	OMIM:301066
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypothermia	ORPHA:168593
Polymyositis	Fever, Hepatomegaly, Elevated circulating creatine kinase concentration, Breast carcinoma, Weight...	ORPHA:732
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Patent ductus arteriosus, Failure to thrive, Weight loss	ORPHA:1842
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Joubert Syndrome 8	Hepatomegaly, Obesity, Prolonged neonatal jaundice	OMIM:612291
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong...	OMIM:274150
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Jaundice, Autoimmune hemolytic anemia, Chronic lymphatic leukemia	ORPHA:90033
Senior-Loken Syndrome 4	Polydipsia, Anemia	OMIM:606996
Aggressive Systemic Mastocytosis	Portal hypertension, Hematological neoplasm, Hypersplenism, Hepatosplenomegaly, Weight loss, Elev...	ORPHA:98850
Trichohepatoneurodevelopmental Syndrome	Joint laxity, Hepatomegaly, Recurrent otitis media, Splenomegaly, Macroglossia, Elevated circulat...	OMIM:618268
Prader-Willi Syndrome	Osteopenia, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased response to gr...	OMIM:176270
H Syndrome	Hypertriglyceridemia, Recurrent fever, Enlarged kidney, Hepatosplenomegaly	ORPHA:168569
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Restlessness, Hyperactivity, Aggressive behavior, Cryptorchidism, Flexion contracture, Furrowed t...	OMIM:300534
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Decreased serum iron, Abnorma...	ORPHA:447
Overhydrated Hereditary Stomatocytosis	Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Cryptorchidism, Self-injurious behavior, Polyphagi...	ORPHA:228402
Estrogen Resistance Syndrome	Osteopenia, Acne, Enlarged polycystic ovaries, Elevated tissue non-specific alkaline phosphatase,...	ORPHA:785
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Inability to walk, Thrombocytopenia, Hepatosplenomegaly, Leukopenia, Hypoalbuminemia, Anemia	ORPHA:505248
Spastic Paraplegia 29, Autosomal Dominant	Hyperactivity, Neonatal hyperbilirubinemia, Hiatus hernia	OMIM:609727
Nephronophthisis 3	Polydipsia, Hepatic fibrosis	OMIM:604387
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Skin rash, Pneumonia, Recurrent pneumonia, Chronic oral candidiasis	OMIM:300400
Diaphanospondylodysostosis	Delayed vertebral ossification, Inguinal hernia, Absent in utero ossification of vertebral bodies...	OMIM:608022
Microcephaly, Amish Type	Hepatomegaly, Failure to thrive	OMIM:607196
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia	ORPHA:52503
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Ataxia, Dystonia	OMIM:251300
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C...	OMIM:256040
Adrenocortical Carcinoma	Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocortical carcin...	ORPHA:1501
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to...	ORPHA:79444
X-Linked Acrogigantism	Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,...	ORPHA:300373
Myotonic Dystrophy 1	Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy	OMIM:160900
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Hepatomegaly, Elevated hepatic transaminase, Acute myeloid leukemia, Small f...	OMIM:260400
Congenital Tufting Enteropathy	Weight loss, Cholestatic liver disease, Failure to thrive, Steatorrhea	ORPHA:92050
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Polydips...	ORPHA:231580
Arima Syndrome	Hepatomegaly, Esophageal varix, Hepatic fibrosis, Cirrhosis, Polydipsia, Hepatic steatosis, Anemia	OMIM:243910
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Osteopeni...	OMIM:619489
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Viral hepatitis, Gastrointestinal hemorrhage, Membrano...	ORPHA:91139
Immunodeficiency 54	Splenomegaly, Hepatomegaly, Failure to thrive, Lymphoproliferative disorder	OMIM:609981
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Flexion contracture, Erythema,...	OMIM:619183
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia	ORPHA:5
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Decreased response to growth hormone stimul...	ORPHA:1855
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Anorexia, Jaundice, Hepatitis, Uveitis, Lymphadenopathy, H...	ORPHA:509
Gitelman Syndrome	Salt craving, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Polydipsia, Failure...	OMIM:263800
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Cachexia, Visceral angiomatosis, Lymphoma, Hamartomatous polyposi...	ORPHA:109
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Immunodeficiency 31C	Osteopenia, Villous atrophy, Protein-losing enteropathy, Recurrent vulvovaginal candidiasis, Hypo...	OMIM:614162
Transaldolase Deficiency	Hepatomegaly, Small for gestational age, Splenomegaly, Patent ductus arteriosus, Micronodular cir...	OMIM:606003
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Gastroesophageal reflux, Periodontitis, Compulsive behaviors,...	ORPHA:534
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral density, Glu...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral density, Glu...	ORPHA:99228
Monosomy X	Osteopenia, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral density, Glu...	ORPHA:99226
Turner Syndrome	Osteopenia, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral density, Glu...	ORPHA:881
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn...	ORPHA:273
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to...	ORPHA:79443
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Enlarged kidney	OMIM:613496
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Bronchiectasis, Malar rash, F...	OMIM:210900
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Stomat...	ORPHA:168577
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab...	ORPHA:791
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Failure to thr...	OMIM:617388
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycystic ovaries, Ty...	ORPHA:3085
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Wei...	ORPHA:100080
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Splenomegaly, Thyroiditis, Hodgkin lymphoma	OMIM:619375
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, High palate, Decreased liver function, Increased intramyocellular lipid droplets, G...	OMIM:220110
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypoch...	OMIM:241200
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Fever, Weight loss, Hepatosplenomegaly	ORPHA:86884
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Hepatomegaly, Fever, Myelodysplasia, Hematological neoplasm, Splenomegaly...	ORPHA:98849
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated hepatic transaminase, Elevated circulating dodecanoylcarnitine concentration, Increased ...	OMIM:619355
Thyroid Hypoplasia	Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Lymphoproliferative Syndrome 1	Hepatomegaly, Lymphoproliferative disorder, B-cell lymphoma, Elevated circulating C-reactive prot...	OMIM:613011
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Hepatomegaly, Recurrent otitis media, Lymphocytic interstitial pneumonia	OMIM:618495
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure	OMIM:615630
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Osteomyelitis, Elevated cir...	OMIM:612852
Osteosarcoma	Fever, Abnormal lactate dehydrogenase level, Weight loss, Elevated circulating alkaline phosphata...	ORPHA:668
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Rhinitis	ORPHA:93476
Microtriplication 11Q24.1	Hyperlipidemia, Obesity	ORPHA:289522
North American Indian Childhood Cirrhosis	Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice	OMIM:604901
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow...	ORPHA:811
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Gastroesophageal reflux, Hypoalbuminemia, Hypocholesterolemia, Hepa...	OMIM:270400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615356
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Jaundice, Abnormal lymph node morphology, Weight loss,...	ORPHA:677
Cerebrotendinous Xanthomatosis	Osteoporosis, Xanthelasma, Pseudobulbar paralysis, Abnormal circulating cholesterol concentration...	OMIM:213700
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Failure to thrive	ORPHA:50812
Malignant Peritoneal Mesothelioma	Neoplasm, Peritonitis, Ascites, Weight loss	ORPHA:168811
Estrogen Resistance	Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Elevated alkalin...	OMIM:615363
Man1B1-Cdg	Truncal obesity, Polyphagia, Joint hypermobility	ORPHA:397941
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Chronic pancreatitis	OMIM:307030
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, Hypophosphatemia, H...	ORPHA:411629
Luscan-Lumish Syndrome	Aggressive behavior, Advanced ossification of carpal bones, Obesity, Polycystic ovaries, Recurren...	OMIM:616831
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Peptic ulcer, Hypercalcemia, Elevated circulating gr...	OMIM:131100
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Acute Disseminated Encephalomyelitis	Viral hepatitis, Aggressive behavior, Herpes simplex encephalitis, Optic neuritis, Myelitis	ORPHA:83597
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Thrombocytosis, Anorexia, Leukocytosis, Hyperammonemia, Weight loss, ...	ORPHA:134
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Failure to thrive, Diabetes insipidus, Hypernatremia	OMIM:304800
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Nephrogenic diabetes insipidus, Polydipsia, Failure to thrive, Hypernatremia	OMIM:125800
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly	OMIM:618107
Citrullinemia, Classic	Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat...	OMIM:215700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Hyperammonemia	ORPHA:289916
Yellow Fever	Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating aspartate aminotransferase conc...	ORPHA:99829
Methanol Poisoning	Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus	ORPHA:31825
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Interstitial pneumonitis	OMIM:620296
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Jaundice, Leukocytosis, Cervical lymphadenopathy, Hepatitis...	ORPHA:2331
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated alkaline phosphatase of bone origin, Elevated circulating cr...	ORPHA:411634
Juvenile Polyposis Of Infancy	Refractory anemia, Hypoalbuminemia, Anemia	ORPHA:79076
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia	ORPHA:79396
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia,...	OMIM:612780
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly,...	OMIM:301078
Glutaric Acidemia I	Hepatomegaly, Hypoglycemia, Reduced peroxisomal glutaryl-CoA oxidase activity, Elevated circulati...	OMIM:231670
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Hem...	ORPHA:100075
Niemann-Pick Disease Type C	Hepatomegaly, Fetal ascites, Aggressive behavior, Low cholesterol esterification rate, Splenomega...	ORPHA:646
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia	OMIM:235510
Listeriosis	Pericarditis, Liver abscess, Stiff neck, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Jaundice...	ORPHA:533
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Oligoarthritis, Hepatic amyloidosis, ...	OMIM:142680
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cachexia	ORPHA:220295
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ch...	ORPHA:398124
Sarcoidosis	Fever, Hepatomegaly, Hypercalcemia, Portal hypertension, Hypothermia, Abnormal liver parenchyma m...	ORPHA:797
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Erythema, Limitation of ...	ORPHA:728
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hyperextensibility of the finger joints, Thrombocytopenia, Cryptorchidism, Cl...	ORPHA:163979
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Thyroid Ectopia	Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid, Umbilical hernia, Hypo...	ORPHA:95712
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Wei...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Wei...	ORPHA:100082
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Pericarditis	ORPHA:163596
Trisomy 18P	Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Attention deficit hyperactivity ...	ORPHA:1715
Lynch Syndrome	Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Benign neoplasm of ...	ORPHA:144
Angelman Syndrome	Abnormality of the gastrointestinal tract, Hyperactivity, Precocious puberty in females, Protrudi...	ORPHA:72
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Redu...	ORPHA:556955
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Weight loss	ORPHA:26790
1P36 Deletion Syndrome	Hepatic steatosis, Camptodactyly of finger, Joint stiffness, Pyloric stenosis, Abnormality of the...	ORPHA:1606
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Hypothyroidism, Reti...	ORPHA:300298
3-Methylglutaconic Aciduria, Type Viii	Jaundice, Dysphagia, Neutropenia, Failure to thrive, Neonatal hypoglycemia	OMIM:617248
Polycythemia Vera	Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegaly, Weight l...	ORPHA:729
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Peritoneal Cystic Mesothelioma	Peritonitis, Neoplasm, Weight loss	ORPHA:168816
Digeorge Syndrome	High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palate, Gastroesoph...	OMIM:188400
Sea-Blue Histiocytosis	Splenomegaly, Hepatomegaly, Blepharitis	ORPHA:158029
Nephrogenic Diabetes Insipidus	Anorexia, Nephrogenic diabetes insipidus, Hypernatremia, Polydipsia, Failure to thrive	ORPHA:223
Immunodeficiency 102	Hepatomegaly, Recurrent skin infections, Nodular regenerative hyperplasia of liver, Bronchiectasi...	OMIM:301082
Familial Adenomatous Polyposis 1	Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor...	OMIM:175100
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl...	ORPHA:2929
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ...	OMIM:300755
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Anorexia, Adrenal...	ORPHA:85138
Cog8-Cdg	Elevated hepatic transaminase, Hypoglycemia, Spontaneous hematomas, Protein-losing enteropathy, F...	ORPHA:95428
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypocholesterolemia	OMIM:618810
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Hepatomegaly, Ascites	ORPHA:2414
Bardet-Biedl Syndrome 17	Polydipsia, Hypogonadism, Obesity	OMIM:615994
Thoraco-Abdominal Enteric Duplication	Hepatomegaly	ORPHA:1759
Leukocyte Adhesion Deficiency, Type Iii	Splenomegaly, Hepatomegaly, Recurrent skin infections, Hepatosplenomegaly	OMIM:612840
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Neoplasm of the skin, Erythroderma	ORPHA:3162
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Immunodeficiency 7	Splenomegaly, Hepatomegaly, Recurrent otitis media, Chronic oral candidiasis	OMIM:615387
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H...	OMIM:207900
Proximal Renal Tubular Acidosis	Malabsorption, Enamel hypomineralization, Bicarbonaturia, Reduced bone mineral density, Hypokalem...	ORPHA:47159
Idiopathic Pulmonary Hemosiderosis	Fever, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Failure to thrive	ORPHA:99931
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Patent ductus arteriosus, Low alkaline phosphatase, Obesity	ORPHA:369837
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, Myeloproliferative disorder, E...	ORPHA:79456
Chronic Hiccup	Weight loss	ORPHA:396
Tbck-Related Intellectual Disability Syndrome	Abnormal circulating lipid concentration, Hypothermia	ORPHA:488632
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia...	OMIM:615453
Wild Type Attr Amyloidosis	Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Weight loss	ORPHA:330001
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Metachromatic Leukodystrophy	Abnormal circulating enzyme concentration or activity, Abnormal stomach morphology, Neoplasm of t...	ORPHA:512
African Trypanosomiasis	Hepatomegaly, Pericarditis, Aggressive behavior, Abnormality of the endocrine system, Splenomegal...	ORPHA:3385
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Hypothermia, Increased blood urea nitrogen	ORPHA:230
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Restlessness, Decreased testicular size, Aggressive behavior, Cryptorchidism, General...	ORPHA:251028
Mirage Syndrome	Hyponatremia, Hypoglycemia, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Radial club hand,...	OMIM:617053
7Q11.23 Microduplication Syndrome	Inguinal hernia, Collectionism, Hyperactivity, Cutis marmorata, Congenital diaphragmatic hernia, ...	ORPHA:96121
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Decreased methylmalonyl-Co...	OMIM:251110
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Hyperammonemia	OMIM:610678
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex...	OMIM:601346
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Lymph...	ORPHA:436159
Reticular Dysgenesis	Fever, Failure to thrive, Weight loss	ORPHA:33355
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Slender build, Elevated circulating aldolase concentration	ORPHA:1328
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
Oligomeganephronia	Polydipsia, Elevated circulating creatinine concentration, Small for gestational age, Congenital ...	ORPHA:2260
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Hypothermia	OMIM:608800
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Leukopenia, Tubulointerstitial...	ORPHA:289390
Neuroblastoma, Susceptibility To, 1	Fever, Abdominal mass, Ganglioneuroblastoma, Weight loss, Neuroblastoma, Failure to thrive, Gangl...	OMIM:256700
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula...	OMIM:218700
Argininemia	Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Portal fibrosis, Hyperargininemia	OMIM:207800
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	ORPHA:85450
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Leukocytosis, Flexion contracture, Abdominal obesity, ...	OMIM:619321
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Hyperammonemia	ORPHA:27
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Cachexia, Malignant hyperthermia, Odontogenic...	ORPHA:800
Omenn Syndrome	Fever, Hepatomegaly, Splenomegaly, Lymphoma, Failure to thrive	ORPHA:39041
Erythrokeratodermia Variabilis	Neoplasm of the skin, Weight loss	ORPHA:317
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Bronchiectasis, ...	OMIM:616100
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym...	OMIM:603041
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc, Failure to thrive	OMIM:201100
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Inflammat...	ORPHA:565612
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormal circulating enzyme concentration or activity, Prematurely aged appearance, A...	ORPHA:909
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Ethylene Glycol Poisoning	Hypothermia, Hyperkalemia, Hypocalcemia, Renal tubular epithelial necrosis	ORPHA:31826
Alexander Disease	Failure to thrive, Hypothermia	ORPHA:58
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Splenomegaly, Elevated circulating alkaline phosphatase concentration, Hypocalcemia...	OMIM:259700
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Incr...	OMIM:105600
Familial Adenomatous Polyposis	Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad...	ORPHA:733
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis	ORPHA:713
Gardner Syndrome	Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M...	ORPHA:79665
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatocellular ca...	OMIM:232240
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Fever, Hepatomegaly, Hyperuricemia, Hyperammonemia	OMIM:246450
Rett Syndrome	Cachexia	OMIM:312750
Isaacs Syndrome	Weight loss	ORPHA:84142
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Reduced bone mineral density, Increased susceptibility t...	ORPHA:18
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Stiff n...	ORPHA:319213
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Weight loss, Neoplasm, Neoplasm of the breast, Neoplasm of the respiratory system	ORPHA:2221
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Recurrent fractures, An...	ORPHA:394
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly	ORPHA:56425
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Decreased methionine synthase activity, Small for gestation...	OMIM:277380
Distal Duplication 5Q	Eczema, Craniosynostosis, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Hernia	ORPHA:96097
X-Linked Intellectual Disability, Cabezas Type	Obesity, Cachexia	ORPHA:85293
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase...	OMIM:620300
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin...	ORPHA:308552
Acute Monoblastic/Monocytic Leukemia	Fever, Increased circulating lactate dehydrogenase concentration, Acute monocytic leukemia, Weigh...	ORPHA:514
Liposarcoma	Sarcoma, Weight loss	ORPHA:69078
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Nijmegen Breakage Syndrome	Glioma, B-cell lymphoma, Cachexia, Rhabdomyosarcoma, Lymphoma, T-cell lymphoma, Acute leukemia, N...	ORPHA:647
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid...	OMIM:614736
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Mechanical ileus, Functional intestinal obstruction,...	ORPHA:100079
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Shoulder flexion contracture, Cryptorchidism, Delayed epiphyseal ossification, F...	OMIM:210710
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ...	OMIM:216360
Dengue Fever	Skin rash, Hepatomegaly, Ascites, Hypoproteinemia	ORPHA:99828
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Hepatomegaly, Large for gestational age, Seborrheic dermatitis, Microvesicular h...	OMIM:300868
Shwachman-Diamond Syndrome 2	Hepatomegaly, Steatorrhea, Hyperechogenic pancreas, Failure to thrive, Exocrine pancreatic insuff...	OMIM:617941
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Anorexia, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:50918
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly	ORPHA:422
Orthostatic Hypotension 1	Hypomagnesemia, Intermittent hypothermia, Increased blood urea nitrogen	OMIM:223360
Lymphoid Interstitial Pneumonia	Fever, Hepatomegaly, Weight loss, Failure to thrive, Enlarged kidney	ORPHA:79128
Tropical Endomyocardial Fibrosis	Fever, Hepatomegaly, Cachexia, Cardiomegaly, Splenomegaly, Hypoalbuminemia, Ascites	ORPHA:75565
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Hepatic steatosis, Loss of fac...	ORPHA:3455
Teratoma, Pineal	Abnormal abdomen morphology, Polydipsia	OMIM:273120
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Gastrointestinal hemorrhage, Conjunctival telangiectasia, Telangiectasia of...	ORPHA:774
8P Inverted Duplication/Deletion Syndrome	Impulsivity, Precocious puberty, High, narrow palate, Cryptorchidism, Contractures of the large j...	ORPHA:96092
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis	OMIM:619652
Acute Lung Injury	Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein concentration, Increased c...	ORPHA:178320
Intellectual Developmental Disorder, Autosomal Dominant 1	Aggressive behavior, Macroglossia, Self-injurious behavior, Gastroesophageal reflux, Inappropriat...	OMIM:156200
Ochoa Syndrome	Cryptorchidism, Polydipsia	ORPHA:2704
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Cholelit...	ORPHA:2072
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, F...	OMIM:619503
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Polyarteritis Nodosa	Fever, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:767
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Lymphoma, Recurrent pneumonia,...	ORPHA:47612
Intellectual Developmental Disorder, Autosomal Dominant 68	Gastroesophageal reflux, High palate, Joint contracture of the 5th finger, Attention deficit hype...	OMIM:619934
Acquired Central Diabetes Insipidus	Polydipsia, Diabetes insipidus, Weight loss	ORPHA:95626
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Bronchiectasis, Uveitis	OMIM:612387
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Hepatomegaly	OMIM:611490
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Inguinal hernia, Small for gestational age, Craniosynostosis, Cryptorchidism, Cleft p...	ORPHA:363611
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Fever, Hepatosplenomegaly, Failure to thrive	ORPHA:331206
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Joint stiffness, Flexion co...	OMIM:609069
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Skin rash, Increased total bilirubin	ORPHA:90036
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cachexia, Splenomegaly, Hyperuricemia	ORPHA:191
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Inguinal hernia, Diabetes mellitus, Intestinal malrotation, Congenital diaphr...	OMIM:600001
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Dys...	ORPHA:845
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:300942
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Adnp Syndrome	Joint laxity, Inguinal hernia, Oral-pharyngeal dysphagia, Aggressive behavior, Cryptorchidism, Tr...	ORPHA:404448
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent...	ORPHA:79318
Tetrasomy 9P	Absent gallbladder, Hyperactivity, Median cleft lip and palate, Myositis, Abnormal dental enamel ...	ORPHA:3310
Gamma-Heavy Chain Disease	Hepatomegaly, Skin rash, Splenomegaly, Rheumatoid arthritis, Neoplasm of the tongue	ORPHA:100026
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Hyperamm...	OMIM:253260
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm...	ORPHA:1572
Cystic Fibrosis	Elevated hepatic transaminase, Osteopenia, Sinusitis, Meconium ileus, Malabsorption, Rectal prola...	ORPHA:586
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatic fibrosis, Cirrhosis, Hepatomegaly	OMIM:601539
Pneumocystosis	Fever, Increased circulating lactate dehydrogenase concentration, Neoplasm, Weight loss	ORPHA:723
Hypomagnesemia 3, Renal	Elevated circulating parathyroid hormone level, Hyperuricemia, Hypomagnesemia, Polydipsia, Failur...	OMIM:248250
Weaver Syndrome	Inguinal hernia, Cryptorchidism, Limited elbow extension, Hydrocele testis, Camptodactyly, Limite...	OMIM:277590
D-Glyceric Aciduria	Abnormal circulating enzyme concentration or activity, Hyperglycinemia, Nonketotic hyperglycinemi...	ORPHA:941
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Hypoglycemia, Microvesicular hepatic steatosis, Hyper...	OMIM:220111
Allergic Bronchopulmonary Aspergillosis	Low-grade fever, Weight loss	ORPHA:1164
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Intestinal malrotation, Conjug...	OMIM:620305
Mosaic Trisomy 9	Camptodactyly of finger, Intestinal malrotation, Asplenia, Cryptorchidism, Limitation of joint mo...	ORPHA:99776
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Decreased methylmalonyl-Co...	OMIM:251100
Hirschsprung Disease	Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss	ORPHA:388
Familial Multiple Lipomatosis	Hyperlipidemia, Medulloblastoma, Odontogenic keratocysts of the jaw	ORPHA:199276
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Hypocalcemia	OMIM:618440
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Hypothyroidism, Congenital hypothyroidi...	OMIM:620186
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Small for gestational age, Intestinal malrotation, Congenital diaphragmatic hernia, Neonatal insu...	ORPHA:2255
Huntington Disease-Like 2	Weight loss	OMIM:606438
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Diabetes mellitus, Pneumonia, Elevated circulating C-reactive protein concentration...	ORPHA:36238
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Hyperactivity, Thyroid hemiagenesis, Abnormal eating beha...	ORPHA:209905
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia, Failu...	OMIM:602522
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Thymoma	Fever, Neoplasm of head and neck, Weight loss, Neoplasm of the lung, Neoplasia of the pleura, Neo...	ORPHA:99867
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Paraganglioma, Weight loss	ORPHA:94080
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Eczema, Splenomegaly, Otitis media, Inflammatory abnormal...	ORPHA:379
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating...	ORPHA:1227
Fucosidosis	Hepatomegaly, Failure to thrive, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
22Q11.2 Deletion Syndrome	Anorectal anomaly, Gastroesophageal reflux, Hypocalcemia, Hypoplasia of the thymus, Chronic otiti...	ORPHA:567
Secondary Non-Traumatic Avascular Necrosis	Addictive alcohol use, Limitation of joint mobility, Abnormality of connective tissue, Rheumatoid...	ORPHA:399180
Schimke Immuno-Osseous Dysplasia	Small for gestational age, Lymphoproliferative disorder, Hyperlipidemia, Non-Hodgkin lymphoma, Fa...	ORPHA:1830
Omenn Syndrome	Splenomegaly, Hepatomegaly, Failure to thrive, Hypoproteinemia	OMIM:603554
Attrv30M Amyloidosis	Weight loss, Cardiomegaly	ORPHA:85447
Glycogen Storage Disease Ii	Fever, Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine...	OMIM:232300
American Trypanosomiasis	Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Infectious encephalitis	ORPHA:3386
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia, Decreased testicular size	OMIM:612469
Adult-Onset Autosomal Dominant Leukodystrophy	Temperature instability, Hypothermia	ORPHA:99027
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Superficial dermal perivascular inflamma...	ORPHA:83617
Rheumatoid Arthritis	Fever, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Small for gestational age, Elevated circulating alanine aminotransferase conc...	OMIM:618500
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Aggressive behavior, High, narrow palate, Recurrent pneumonia, Cleft palate, Fur...	ORPHA:464738
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Helix Syndrome	Hyperparathyroidism, Hypermagnesemia, Xerostomia, Hypokalemia, Polydipsia	OMIM:617671
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	OMIM:109720
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Testicular adrenal rest tumor, ...	ORPHA:361
Transketolase Deficiency	Hepatomegaly, Seborrheic dermatitis, Patent ductus arteriosus, Uveitis, Conjunctivitis, Elevated ...	ORPHA:488618
Cystic Fibrosis	Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Steatorrhea, Failure to thrive, P...	OMIM:219700
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Pneumonia, Splenomegaly, Neoplasm, Chronic otitis media	ORPHA:169090
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Panhypopituitarism, Hypogonadism, H...	ORPHA:91351
Triploidy	Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas	ORPHA:3376
Cryptogenic Organizing Pneumonia	Fever, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Helsmoortel-Van Der Aa Syndrome	Joint laxity, Hyperactivity, Decreased response to growth hormone stimulation test, High, narrow ...	OMIM:615873
Glucose-Galactose Malabsorption	Fever, Hypercalcemia, Weight loss, Hypernatremia, Failure to thrive	ORPHA:35710
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr...	ORPHA:210122
Aromatic L-Amino Acid Decarboxylase Deficiency	Temperature instability, Intermittent hypothermia	OMIM:608643
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Scheie Syndrome	Splenomegaly, Hepatomegaly, Rhinitis	ORPHA:93474
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly	OMIM:619053
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder	ORPHA:2869
Idiopathic Chronic Eosinophilic Pneumonia	Fever, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:2902
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra...	ORPHA:747
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma...	ORPHA:99818
Gm1 Gangliosidosis	Splenomegaly, Patent ductus arteriosus, Hepatosplenomegaly, Weight loss, Decreased beta-galactosi...	ORPHA:354
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab...	OMIM:137920
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Sple...	OMIM:249100
Anaplastic Thyroid Carcinoma	Neoplasm of the skeletal system, Weight loss, Neoplasm of the lung, Malignant neoplasm of the cen...	ORPHA:142
Meckel Syndrome, Type 6	Absent gallbladder, Cleft palate, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis...	OMIM:612284
Trisomy 18	Cachexia	ORPHA:3380
Acute Promyelocytic Leukemia	Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Weight loss, Lymphadenopathy, Leukopenia,...	ORPHA:520
Proteus Syndrome	Cachexia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Retinal hamartoma, Neop...	ORPHA:744
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss	ORPHA:71493
Renal Hypoplasia	Polydipsia, Small for gestational age	ORPHA:93101
Syndromic Diarrhea	Hepatomegaly, Small for gestational age, Splenomegaly, Patent ductus arteriosus, Abnormality of t...	ORPHA:84064
Sotos Syndrome	Flexion contracture, Gastroesophageal reflux, Chronic otitis media, Hypothyroidism, Flushing, Joi...	ORPHA:821
Igg4-Related Aortitis	Fever, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:449400
Stiff Person Spectrum Disorder	Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Elevated circulating creatine kinase concentration	OMIM:253800
Diamond-Blackfan Anemia	Acute myeloid leukemia, Thrombocytosis, Pure red cell aplasia, Erythroid hypoplasia, Reticulocyto...	ORPHA:124
Autosomal Dominant Epidermolytic Ichthyosis	Conjunctival hamartoma, Weight loss	ORPHA:312
Fructose-1,6-Bisphosphatase Deficiency	Fever, Hepatomegaly	OMIM:229700
Takayasu Arteritis	Fever, Weight loss	ORPHA:3287
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Diffuse Alveolar Hemorrhage	Fever, Elevated circulating creatinine concentration, Weight loss	ORPHA:90060
Pentalogy Of Cantrell	Omphalocele, Absent gallbladder, Congenital diaphragmatic hernia, Cleft palate, Polysplenia	ORPHA:1335
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Systemic Capillary Leak Syndrome	Pancreatitis, Multiple myeloma, Weight loss	ORPHA:188
Thymic Carcinoma	Neoplasm of the thymus, Weight loss	ORPHA:99868
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Nail-biting, Eczema, Aggressive behavior, Hair-pulling, Recurrent pneumonia, Polyph...	OMIM:620330
Seckel Syndrome	Cachexia	ORPHA:808
Genitopalatocardiac Syndrome	Abnormal mesentery morphology, Abnormality of the gallbladder	ORPHA:2075
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Aggressive behavior, Cryptorchidism, Compulsive behaviors,...	ORPHA:163956
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Skin rash, Neoplasm of the skin	ORPHA:53715
Bohring-Opitz Syndrome	Cardiomegaly, Limitation of joint mobility, Bilateral wrist flexion contracture, Cleft palate, Co...	ORPHA:97297
Giant Cell Arteritis	Fever, Hepatic failure, Weight loss	ORPHA:397
Perlman Syndrome	Distal ileal atresia, Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, C...	OMIM:267000
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Fever, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:324964
Trisomy 10P	Absent gallbladder, Small for gestational age, Dysphagia, Gastroesophageal reflux, High palate, R...	ORPHA:171929
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Cardiomegaly, Rectal prolapse, Ga...	ORPHA:904
Rett Syndrome	Increased serum pyruvate, Cholecystitis, Hyperammonemia	ORPHA:778
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc...	ORPHA:276621
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, Neonatal hypoglycemia, ...	ORPHA:116
Stevens-Johnson Syndrome	Acute hepatic failure, Fever, Elevated hepatic transaminase, Weight loss, Pancreatitis	ORPHA:36426
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Isolated Succinate-Coq Reductase Deficiency	Left ventricular hypertrophy, Weight loss	ORPHA:3208
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Failure to thr...	OMIM:610768
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Pulmonary Alveolar Microlithiasis	Fever, Hepatomegaly, Abnormal circulating calcium concentration, Weight loss, Increased circulati...	ORPHA:60025
Senior-Loken Syndrome 1	Polydipsia, Elevated circulating creatinine concentration, Anemia	OMIM:266900
Pulmonary Non-Tuberculous Mycobacterial Infection	Fever, Weight loss	ORPHA:411703
Nephronophthisis 4	Polydipsia, Anemia	OMIM:606966
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Small intestine carcinoid, ...	ORPHA:100078
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Weight loss	ORPHA:79242
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney	OMIM:200995
Nephronophthisis 1	Polydipsia, Anemia	OMIM:256100
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia	OMIM:618056
Brucellosis	Fever, Hepatomegaly, Liver abscess, Small for gestational age, Elevated circulating C-reactive pr...	ORPHA:1304
Hereditary Pheochromocytoma-Paraganglioma	Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hyperca...	ORPHA:29072
Stiff-Person Syndrome	Exaggerated startle response, Anemia, Opisthotonus	OMIM:184850
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Perry Syndrome	Weight loss	ORPHA:178509
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Fever, Weight loss	ORPHA:79127
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly, Failure to thrive, Heat intolerance	OMIM:612132
Trisomy 8P	Multiple joint contractures, Cryptorchidism, Malrotation of small bowel, Cleft palate, Aplasia/Hy...	ORPHA:264450
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Decreased liver function, Recurrent fever	OMIM:614863
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Yao Syndrome	Recurrent fever, Weight loss	OMIM:617321
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Hyperamm...	OMIM:222700
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Weight loss, Steatorrhea	ORPHA:309031
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Weight loss, Inc...	ORPHA:95409
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response	OMIM:620114
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Esoph...	ORPHA:1018
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Difficulty walking	ORPHA:320406
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan...	ORPHA:3464
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Patent ductus arteriosus, Hypothermia, Decreased serum iron	ORPHA:438213
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici...	ORPHA:97214
Vacterl/Vater Association	Abnormality of the pancreas, Abnormality of the gallbladder	ORPHA:887
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss, Low-grade fever, Hepatosplenomegaly	ORPHA:85408
Fatal Familial Insomnia	Fever, Weight loss	OMIM:600072
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Ataxia, Broad-based gait, Dystonia	ORPHA:438216
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:231005
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Ataxia	OMIM:616881
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Aggressive behavior, Hypothyroidism, Self-mutilation, Submucous cleft ha...	OMIM:607872
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Small for gestational age, Right ventricular hypertrophy, Cardiomegaly	ORPHA:555874
Marfan Syndrome	Slender build, Cachexia	ORPHA:558
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Hypertriglyceridemia, Small for gestational age	OMIM:264090
Metachromatic Leukodystrophy, Late Infantile Form	Cholecystitis	ORPHA:309256
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Carney-Stratakis Syndrome	Gastrointestinal stroma tumor, Paraganglioma, Weight loss	ORPHA:97286
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Zttk Syndrome	Absent gallbladder, Craniosynostosis, Flexion contracture, Submucous cleft hard palate, High pala...	OMIM:617140
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Paradoxical increased cortisol secretion on dexamethasone suppression ...	ORPHA:99889
Metachromatic Leukodystrophy, Juvenile Form	Cholecystitis	ORPHA:309263
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Hypoasparaginemia	OMIM:615574
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Adrenocortical carcinoma, Pancreatic hyperplasia, Gonadoblastoma, Hep...	OMIM:130650
Chronic Beryllium Disease	Weight loss	ORPHA:133
Eosinophilic Fasciitis	Weight loss	ORPHA:3165
Metachromatic Leukodystrophy, Adult Form	Cholecystitis, Neoplasm of the gallbladder	ORPHA:309271
Marchiafava-Bignami Disease	Addictive alcohol use, Aggressive behavior	ORPHA:221074
Glossopharyngeal Neuralgia	Schwannoma, Neoplasm, Weight loss	ORPHA:221098
Bullous Pemphigoid	Weight loss	ORPHA:703
Poems Syndrome	Lymphoproliferative disorder, Weight loss, Hemangioma, Ascites, Visceromegaly	ORPHA:2905
Pyomyositis	Fever, Testicular teratoma, Weight loss	ORPHA:764
Cap Polyposis	Weight loss	ORPHA:160148
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Decreased calvari...	OMIM:617925
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro...	ORPHA:29073
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia	ORPHA:90154
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:600376
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Inability to walk, Exaggerated startle response	OMIM:617864
Craniofacioskeletal Syndrome	Absent gallbladder, Hypocalcemia, Cleft palate, Cryptorchidism	OMIM:300712
Stickler Syndrome	Slender build, Cachexia	ORPHA:828
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Abnormal mesente...	ORPHA:449395
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Igg4-Related Retroperitoneal Fibrosis	Fever, Elevated circulating C-reactive protein concentration, Elevated circulating creatinine con...	ORPHA:49041
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Sandhoff Disease	Exaggerated startle response, Ataxia, Hepatosplenomegaly	OMIM:268800
Loeffler Endocarditis	Left ventricular hypertrophy, Weight loss	ORPHA:75566
Juvenile Dermatomyositis	Calcinosis, Fever, Elevated circulating creatine kinase concentration, Elevated circulating C-rea...	ORPHA:93672
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent fever, Hypothermia, Unexplained fevers	ORPHA:642
Sarcoidosis, Susceptibility To, 1	Splenomegaly, Hepatomegaly, Fever, Weight loss	OMIM:181000
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Norrie Disease	Vascular neoplasm, Neoplasm of the eye, Failure to thrive, Cachexia	ORPHA:649
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia	ORPHA:90153
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Telangiectasia, Hematochezia, Hamartomatous polyposis, Gastr...	OMIM:175050
Perry Syndrome	Weight loss	OMIM:168605
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Obesity, Weight loss	ORPHA:251071
Malt Lymphoma	Fever, B-cell lymphoma, Weight loss	ORPHA:52417
Rat-Bite Fever	Abdominal aseptic abscess, Fever, Pancreatitis, Weight loss	ORPHA:31205
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Increased i...	ORPHA:79102
Woodhouse-Sakati Syndrome	Choreoathetosis, Hyperlipidemia, Dystonia	OMIM:241080
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Pemphigus Vulgaris	Weight loss	ORPHA:704
Atelis Syndrome 2	Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemi...	OMIM:620185
Congenital Disorder Of Glycosylation, Type Iim	Gastroesophageal reflux, Enamel hypoplasia, High palate, Neonatal hyperbilirubinemia	OMIM:300896
Nocardiosis	Fever, Peritonitis, Liver abscess, Weight loss	ORPHA:31204
Eosinophilic Granulomatosis With Polyangiitis	Fever, Weight loss	ORPHA:183
Oromandibular Dystonia	Weight loss	ORPHA:93958
Malignant Atrophic Papulosis	Peritonitis, Weight loss	ORPHA:679
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	ORPHA:2388
Mucolipidosis Type Ii	Left ventricular hypertrophy, Splenomegaly, Weight loss, Hepatosplenomegaly	ORPHA:576
Dermatomyositis	Fever, Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Weight loss, Neoplasm, Lung ade...	ORPHA:221
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Fever, Recurrent fever, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:301074
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Absent gallbladder	ORPHA:3186
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Short Syndrome	Weight loss	ORPHA:3163
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Steinfeld Syndrome	Absent gallbladder, Bifid uvula, Median cleft lip and palate	OMIM:184705
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Riddle Syndrome	Recurrent fever, Elevated circulating alpha-fetoprotein concentration, Weight loss	ORPHA:420741
Hermansky-Pudlak Syndrome	Basal cell carcinoma, Squamous cell carcinoma of the skin, Weight loss	ORPHA:79430
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Exaggerated startle response, Dystonia	ORPHA:79255
Fabry Disease	Left ventricular hypertrophy, Fever, Hyperlipidemia, Abnormal circulating lipid concentration	ORPHA:324
Granulomatosis With Polyangiitis	Fever, Pancreatitis, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:900
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Hyperextensibility at elbow, Failure to thrive in infancy, Sagittal craniosyn...	ORPHA:500150
Fanconi Anemia	Myelodysplasia, Patent ductus arteriosus, Weight loss, Abnormality of the liver, Neoplasm	ORPHA:84
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Pancreatic hypoplasia, Reduced pancreatic beta cells, Weight loss	ORPHA:99885
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Testicular adrenal rest tumor, ...	ORPHA:90794
Smith-Lemli-Opitz Syndrome	Abnormality of the gallbladder, Elevated circulating 7-dehydrocholesterol concentration	ORPHA:818
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mildly elevated creatine kinase, Weight loss	OMIM:607459
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Dystonia	ORPHA:521426
Peters-Plus Syndrome	Joint laxity, Bilobate gallbladder, Craniosynostosis, Limited elbow movement, Cryptorchidism, Bil...	OMIM:261540
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Acrodermatitis Enteropathica	Failure to thrive, Weight loss	ORPHA:37
Granulomatosis With Polyangiitis	Fever, Weight loss	OMIM:608710
Wolf-Hirschhorn Syndrome	Abnormality of the gallbladder, Abdominal situs inversus	ORPHA:280
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Ring Chromosome 13 Syndrome	Primary hypothyroidism, Hypoplasia of the gallbladder, High palate, Anal atresia	ORPHA:96176
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Hypokalemia, Decreased circulating c...	ORPHA:3337
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Behçet Disease	Fever, Splenomegaly, Pancreatitis, Weight loss	ORPHA:117
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Fever, Weight loss	ORPHA:79078
Oculopharyngodistal Myopathy 1	Elevated circulating creatine kinase concentration, Weight loss	OMIM:164310
Reactive Arthritis	Fever, Weight loss	ORPHA:29207
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Ascites, Weight loss	ORPHA:99921
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Tubulointerstitial Nephritis And Uveitis Syndrome	Fever, Elevated circulating C-reactive protein concentration, Elevated circulating creatinine con...	ORPHA:91500
Tsh-Secreting Pituitary Adenoma	Hypokalemia, Weight loss	ORPHA:91347
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Weight loss	ORPHA:2020
Goodpasture Syndrome	Fever, Weight loss, Increased blood urea nitrogen	OMIM:233450
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss	ORPHA:740
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

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 Nr1h4

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 Nr1h4.

No publications found that use IMPC mice or data for Nr1h4.

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
Nr1h4^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Nr1h4^{tm41590(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Nr1h4^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Nr1h4^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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