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Gene: Entpd5 MGI:1321385

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

ectonucleoside triphosphate diphosphohydrolase 5

Synonyms:

NTPDase-5, mNTPase, ER-UDPase, Pcph, Cd39l4, NTPDase5

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Entpd5 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 Entpd5 (0 diseases)
Human diseases predicted to be associated with Entpd5 (1066 diseases)

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

The table below shows human diseases predicted to be associated to Entpd5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati...	OMIM:620357
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:620010
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ...	ORPHA:158057
Edinburgh Malformation Syndrome	Jaundice, Failure to thrive, Neonatal hyperbilirubinemia	OMIM:129850
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection...	OMIM:300635
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I...	ORPHA:3111
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n...	ORPHA:79234
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ...	ORPHA:890
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta...	ORPHA:158061
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality	OMIM:237500
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Neonatal Hemochromatosis	Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase...	ORPHA:446
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:79235
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia	OMIM:609016
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas...	OMIM:616860
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino...	OMIM:618805
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Hypoglycemia,...	OMIM:615160
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por...	ORPHA:369
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun...	OMIM:619256
Mpi-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hypoalb...	ORPHA:79319
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated...	OMIM:615158
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia	OMIM:143500
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly...	OMIM:617093
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia, Jaundice	OMIM:237450
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia, Jaundice	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Jaundice, Unconjugated hyperbilirubinemia	OMIM:606785
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea...	OMIM:619048
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin...	OMIM:251880
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb...	ORPHA:507
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Galactokinase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Premature ovarian insufficie...	ORPHA:79237
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elev...	OMIM:617872
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Crigler-Najjar Syndrome, Type I	Jaundice, Unconjugated hyperbilirubinemia	OMIM:218800
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:617049
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B...	OMIM:226990
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta...	OMIM:619484
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyper...	OMIM:602579
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Incre...	OMIM:174050
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta...	ORPHA:324575
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,...	OMIM:231100
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa...	OMIM:619013
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype...	OMIM:617156
Alg6-Cdg	Abnormal circulating enzyme concentration or activity, Jaundice, Decreased LDL cholesterol concen...	ORPHA:79320
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Pancytopenia, Sk...	OMIM:603553
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu...	OMIM:619386
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Decreased body ...	ORPHA:1667
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin	ORPHA:2924
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weigh...	OMIM:209950
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci...	OMIM:610717
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha...	ORPHA:2394
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Failure to thrive, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Elev...	OMIM:608104
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ...	ORPHA:540
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Hepatospleno...	ORPHA:367
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Decreased li...	OMIM:246900
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hypoglycemia, Hyperammonemia	ORPHA:35
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:617950
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating enzyme concentration or activity, Fasting hypoglycemia, Obesity, Abnormal ci...	ORPHA:171706
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Reduced red cell pyruvate kinase level, Increased circulating ferr...	ORPHA:766
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Elev...	OMIM:611182
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Refractory Celiac Disease	Elevated hepatic transaminase, Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of ...	ORPHA:398063
Cystic Echinococcosis	Elevated hepatic transaminase, Hepatomegaly, Abnormal peritoneum morphology, Abscess, Abnormality...	ORPHA:400
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala...	OMIM:605911
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,...	ORPHA:2298
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Hypoglycemia, Failu...	ORPHA:289504
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased body weight, Hepatic ...	ORPHA:264580
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Sp...	OMIM:618892
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula...	OMIM:605479
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased ...	ORPHA:276556
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure...	ORPHA:199296
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp...	ORPHA:2089
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Conjugated hyperbilirubin...	ORPHA:30391
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu...	ORPHA:276575
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	ORPHA:42
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Hypoalbuminemia, Obesity, Cardiomegaly	ORPHA:88643
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ...	OMIM:261680
Galactose Mutarotase Deficiency	Abnormal circulating enzyme concentration or activity, Hepatomegaly, Cholestasis, Hypergalactosem...	ORPHA:570422
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:613404
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Reduced level of N-ac...	OMIM:224120
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta...	ORPHA:53035
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Jaun...	OMIM:603552
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Incr...	OMIM:616299
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure	ORPHA:156
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, D...	OMIM:618329
Dubin-Johnson Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ...	ORPHA:234
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuo...	OMIM:269920
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Thrombocytopenia, Leukocytosis, Myocard...	ORPHA:292
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn...	ORPHA:101330
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Skin rash, Elevated circulating C-reactive protein concentration...	OMIM:616050
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Hypergalactosemia, F...	OMIM:230350
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Soft tissue neoplasm, Vaginal neoplasm, Pelvic mass...	ORPHA:2126
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Ele...	OMIM:232800
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep...	OMIM:619685
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Elevated circ...	ORPHA:829
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Failure to thrive	OMIM:618958
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia	OMIM:614741
Fanconi-Bickel Syndrome	Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrah...	OMIM:227810
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Obesity, Cholestasis, Hypoglycemic seizures, Hyperbilirubin...	OMIM:609734
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat...	ORPHA:39812
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,...	ORPHA:186
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri...	OMIM:246700
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia	OMIM:227090
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis...	ORPHA:171
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Alg1-Cdg	Hypoalbuminemia, Decreased liver function	ORPHA:79327
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h...	ORPHA:26792
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Analbuminemia	Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL cholester...	OMIM:616000
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva...	OMIM:611881
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Primary ...	OMIM:612526
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:212140
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Skin rash, Small for gestational age, Abnormality of the pancreas,...	ORPHA:69665
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failu...	OMIM:238970
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79239
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis,...	ORPHA:37042
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia	ORPHA:664
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Spleno...	OMIM:602390
Malaria	Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia, Decreased liver function, Thrombocytopenia	ORPHA:67048
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly	OMIM:266150
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Colitis, Cirrho...	OMIM:614602
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Acute colitis, Leukocytosis, Weight l...	ORPHA:67
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb...	OMIM:208085
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Ascites, Hypoalbuminemia, Anemia	OMIM:603278
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Cryptorchidism, Hypogonadism, Micropenis, Neonatal hyperbilirubinemia	ORPHA:3363
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec...	ORPHA:47
Galactosemia I	Hepatomegaly, Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ...	OMIM:230400
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Acute pancreatitis, Pericarditis, ...	OMIM:619487
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as...	ORPHA:2088
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage...	OMIM:301101
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Hypocalcemia, Failure to thrive	ORPHA:172
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli...	OMIM:618549
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Allergic rhinitis, Leukocyto...	ORPHA:2070
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Reticulocytosis, Thrombocytosis, Osteomyelitis, Microcytic ...	ORPHA:232
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr...	OMIM:614921
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Jaundice, Splenomega...	OMIM:194380
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia	ORPHA:329249
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Mac...	ORPHA:3202
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Patent ductus arteriosus, Hyperbilirubinemia, Decreased body weigh...	OMIM:614886
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly	ORPHA:158
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:91547
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia	OMIM:616483
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614727
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis	OMIM:617609
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Abnormality of body weight, Decreased body weight	ORPHA:314811
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca...	OMIM:235200
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopen...	OMIM:608971
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb...	OMIM:277900
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:79333
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia	OMIM:618660
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia	ORPHA:1954
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased serum iro...	ORPHA:98870
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large...	OMIM:616026
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E...	ORPHA:79230
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:614887
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Reticulocyt...	ORPHA:14
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Micropenis, Ly...	OMIM:617575
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Leukopenia, Ascites,...	ORPHA:381
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Hemochromatosis, Type 3	Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc...	OMIM:604250
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Leukopenia, Tubulointerstitia...	OMIM:251000
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hyper...	OMIM:212065
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:212138
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir...	ORPHA:36234
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act...	OMIM:203800
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Increased proinsulin:insulin...	ORPHA:94086
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra...	OMIM:609015
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Propionic Acidemia	Hepatomegaly, Pancytopenia, Hypoglycemia, Eczema, Thrombocytopenia, Hyperammonemia, Hyperglycinem...	OMIM:606054
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Arthri...	ORPHA:33110
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis...	ORPHA:169160
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:245400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ...	OMIM:608836
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Maculo...	ORPHA:822
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp...	OMIM:615710
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati...	OMIM:619355
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat...	OMIM:602347
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin resistance, Insulin...	ORPHA:411593
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Premature ovarian insufficiency, Decreased ci...	ORPHA:199299
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Failure to thrive, Elevated circulating creatine kinase c...	OMIM:500009
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Ascites, Hypoproteinemia, ...	OMIM:226300
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration	OMIM:614876
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance, Multiple lipomas	ORPHA:2398
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Unconjugated hyperbilirubine...	OMIM:300908
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp...	OMIM:301045
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Failure to thrive, Premature ovarian insufficiency, Cachexia, Hypo...	OMIM:610965
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Immunodeficiency 56	Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis...	OMIM:615207
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated circulati...	ORPHA:99901
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice	ORPHA:95715
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Irregular menstruation, Diabetic ketoacidosis, Hepatic steato...	OMIM:615238
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Abnormal CD4:CD8 ratio, Autoimmu...	ORPHA:572
Rh Deficiency Syndrome	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Erythema nodosum, Splenomegaly, Jaundice...	OMIM:613471
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Trichohepatoenteric Syndrome 1	Hepatomegaly, Failure to thrive, Hypospadias, Small for gestational age, Increased mean platelet ...	OMIM:222470
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Hepatitis, Erythroderma, A...	OMIM:304790
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, El...	ORPHA:85443
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperpro...	OMIM:619064
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Glycosuria, ...	OMIM:229600
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Small scrotum, Failure to thrive, Small for gestatio...	OMIM:613658
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:95717
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Hypoglycemia, Pneumoni...	ORPHA:90790
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulating free fat...	ORPHA:79644
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine k...	OMIM:201475
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Micropenis, Failure to thrive	OMIM:613861
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat...	ORPHA:79096
Congenital Generalized Lipodystrophy	Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal...	ORPHA:528
Alg12-Cdg	Hyponatremia, Abnormal circulating enzyme concentration or activity, Elevated hepatic transaminas...	ORPHA:79324
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit...	ORPHA:139402
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia...	OMIM:615453
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Weight loss	ORPHA:79238
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Hy...	ORPHA:159
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight	OMIM:618347
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Cryptorchid...	OMIM:615381
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Gout, Xanthelasma, Hyp...	OMIM:232200
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia, Hypogly...	ORPHA:6
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino...	OMIM:620300
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Minimal change glomerulonephritis, Peritonitis, Hypoalbuminemia, Hyperchole...	ORPHA:567548
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Recurrent pneumonia, Leuk...	OMIM:617303
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest...	ORPHA:26793
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Mirizzi Syndrome	Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase ...	ORPHA:521219
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis...	ORPHA:440713
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Disseminated cutaneous warts, Weight loss, Reduced proportion of CD4+ effect...	ORPHA:90362
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Immunodeficiency 48	Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczema...	OMIM:269840
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Large for gestational age	ORPHA:2432
Glutaric Acidemia I	Hepatomegaly, Hypoglycemia, Reduced peroxisomal glutaryl-CoA oxidase activity, Elevated circulati...	OMIM:231670
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Failure to thrive, Splenomegaly, Hepati...	OMIM:308230
Tyrosinemia, Type I	Acute hepatic failure, Hypertyrosinemia, Hepatomegaly, Elevated hepatic transaminase, Failure to ...	OMIM:276700
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:608600
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe...	ORPHA:69663
Immunodeficiency 43	Lung abscess, Bronchiectasis, B lymphocytopenia, Decreased circulating beta-2-microglobulin level...	OMIM:241600
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp...	OMIM:232220
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age	OMIM:256300
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia	OMIM:201450
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Hyperammonemia, Hypero...	ORPHA:415
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife...	OMIM:619644
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ...	OMIM:147480
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia	ORPHA:5
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,...	OMIM:619418
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Abnormality of the liver, Mildly elevated creatine kinase, Decreased circulating ca...	ORPHA:254864
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Iron deficien...	OMIM:269200
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Hypoglycemia, Anemia	OMIM:610090
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi...	ORPHA:228426
Spermatogenic Failure 17	Male infertility	OMIM:617214
Acth Deficiency, Isolated	Jaundice, Decreased circulating cortisol level, Fasting hypoglycemia, Cholestasis	OMIM:201400
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Primary hypercortisolism, Precocious puberty, Cuta...	ORPHA:562
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Poly...	ORPHA:79085
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati...	ORPHA:26791
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly, Failure to thrive, Hyperammonemia	ORPHA:28
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:95716
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Elevated circulating c...	ORPHA:542323
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin r...	ORPHA:435660
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Elevated circulating C...	ORPHA:54251
2P21 Microdeletion Syndrome	Failure to thrive, Hypogonadism, Hypocalcemia, Hypoglycemia	ORPHA:163693
Isochromosomy Yp	Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size	ORPHA:98797
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hep...	ORPHA:79259
Mehmo Syndrome	Small for gestational age, Hypoglycemia, Obesity, Male hypogonadism, Micropenis	OMIM:300148
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Weight loss	ORPHA:86893
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Secondary Intestinal Lymphangiectasia	Lymphopenia, B-cell lymphoma, Reduced circulating transferrin concentration, Lymphoma, Chylous as...	ORPHA:90363
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l...	OMIM:619381
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati...	ORPHA:79084
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypogonadism, Failu...	ORPHA:73272
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count,...	ORPHA:3261
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit...	OMIM:209920
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperuricemia, Anemia	OMIM:246450
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Ménétrier Disease	Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia, Giant hypertrophic ...	ORPHA:2494
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ...	OMIM:256810
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Legionnaires Disease	Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphop...	ORPHA:549
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia, Minimal change glomerulonephritis	OMIM:616730
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Nephrotic Syndrome, Type 6	Hypoalbuminemia, Minimal change glomerulonephritis	OMIM:614196
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl...	OMIM:613385
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Thrombocytosis, Elevated circulating aspartate aminotransferase c...	OMIM:614034
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hypercalcemia, Hemangiomatosis, Visceral angiomatosis, Patent ductus arteriosus, Th...	ORPHA:2123
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice...	ORPHA:858
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Hypoglycemia, Cardiomegaly, Hyperammonemia, Ascites, Hyperalaninemia, ...	OMIM:614702
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79332
Bachmann-Bupp Syndrome	Cryptorchidism, Hypoglycemia, Hyperbilirubinemia, Large for gestational age	OMIM:619075
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, El...	OMIM:619991
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomeg...	ORPHA:79083
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Steatorrhea, Hepatic failu...	ORPHA:75233
Melioidosis	Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl...	ORPHA:31202
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Fumarase Deficiency	Necrotizing enterocolitis, Failure to thrive, Decreased fumarate hydratase activity, Polycythemia...	OMIM:606812
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Failure to thrive, H...	ORPHA:3008
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphoma, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Fail...	OMIM:619046
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom...	OMIM:259720
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d...	OMIM:231530
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypo...	OMIM:619055
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Failure to...	OMIM:615438
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Pancreatitis, Hyperammonemia	OMIM:620137
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism...	ORPHA:91
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Hemophagocytosis, Neutropenia	ORPHA:79477
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Small for gestational age, Abnormal external genitalia, Hypoglycemia, Decreased body weight, Neon...	ORPHA:231140
Laron Syndrome	Hypoplasia of penis, Hypoglycemia, Osteoarthritis, Truncal obesity, Hypercholesterolemia	ORPHA:633
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma...	ORPHA:99826
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Elevated circulatin...	OMIM:613489
Endocardial Fibroelastosis	Cryptorchidism, Hypoplasia of penis, Hypoglycemia	ORPHA:2022
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminot...	OMIM:614866
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Prolonged neonatal jaundice, Macroorchidism, Hypercholesterolemia, Abnormal ci...	ORPHA:90674
Mirage Syndrome	Hyponatremia, Decreased body weight, Hypospadias, Hypergonadotropic hypogonadism, Myelodysplasia,...	OMIM:617053
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti...	ORPHA:91138
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:300842
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio...	OMIM:231680
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid...	OMIM:614736
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:608779
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Donohue Syndrome	Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pa...	OMIM:246200
Cog8-Cdg	Elevated hepatic transaminase, Failure to thrive, Hypoglycemia	ORPHA:95428
Lichen Planopilaris	Neoplasm of the oral cavity, Hepatitis	ORPHA:525
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Single lineage myelodysplasia...	ORPHA:86839
Silver-Russell Syndrome 1	Hypospadias, Small for gestational age, Craniopharyngioma, Fasting hypoglycemia, Hepatocellular c...	OMIM:180860
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Decreased liver function	OMIM:614870
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Hepatic failure, T...	OMIM:611126
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Recurrent skin infections, Decreased serum iron, Squamous cell carcinoma, Anem...	ORPHA:89842
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa...	ORPHA:66634
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Hematological neoplasm, Keratitis, Hepatitis, ...	ORPHA:1163
Genetic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Hypoalbuminemia, Minimal change glomerulonephritis	ORPHA:656
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Cyclic neutropenia, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia,...	OMIM:232240
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype...	ORPHA:35878
Cyanosis, Transient Neonatal	Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni...	ORPHA:227990
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Polycystic ovaries, Olig...	ORPHA:435651
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Hyperammonemia, Hyperprolinemia...	OMIM:615751
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Weight loss, Mastocytosis, Sarcoma	ORPHA:66661
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash...	OMIM:617591
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Shigellosis	Hyponatremia, Acute colitis, Failure to thrive in infancy, Abscess, Pneumonia, Hypoglycemia, Myoc...	ORPHA:810
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele...	ORPHA:100085
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Hypoglycemia, Abnormal mitochondrial morphology	OMIM:300438
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterol...	ORPHA:71
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocyt...	OMIM:614470
Isochromosomy Yq	Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc...	ORPHA:98798
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia ...	ORPHA:231222
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneum...	ORPHA:83471
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Erysipelas, Elevated circulating creatine kinase concentration	OMIM:615704
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni...	ORPHA:227982
Ciliary Dyskinesia, Primary, 50	Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ...	OMIM:620356
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:608799
Medullary Thyroid Carcinoma	Neoplasm of the skeletal system, Abnormal liver parenchyma morphology, Neoplasm of the lung, Weig...	ORPHA:1332
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, External genital hypoplasia, Hypoglycemia	ORPHA:231147
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Failure to thrive	OMIM:613561
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormal fallopian tu...	ORPHA:2552
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea...	ORPHA:363400
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Hepatomegaly, Ascites, Weight loss	ORPHA:2198
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach...	ORPHA:83469
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circul...	ORPHA:158048
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H...	OMIM:266510
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Failure to thrive, Pan...	ORPHA:79312
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Cardiomegaly, M...	OMIM:618278
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Small for gestational age, Hypoglycemia, Bronchiectasis, Hyperammonemia, Aspiration ...	OMIM:618253
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:618120
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocyto...	ORPHA:134
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ...	OMIM:616878
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Hyperbiliverdinemia	Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis	OMIM:614156
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati...	OMIM:614872
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ...	ORPHA:480864
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Clitoral hypertrophy, Decreased circulating cortisol level, Hypospadias, Neonatal h...	ORPHA:90791
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Hematological neoplasm, Splenomegaly, Increased...	ORPHA:98848
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hyperalaninemia, Failure to thrive, Hypoglycemia, Hyperammonemia	OMIM:614739
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Premature ovarian insufficienc...	OMIM:240300
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Decreased body...	OMIM:231000
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Pancytopenia, Atrophic gastritis, Chilblains, Pneumonia, Skin ras...	OMIM:615846
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Jaundic...	ORPHA:20
Niemann-Pick Disease, Type A	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, B...	OMIM:257200
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop...	OMIM:215600
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Insulin resist...	ORPHA:2348
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni...	ORPHA:183675
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A...	ORPHA:300298
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c...	OMIM:614576
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Anemia	ORPHA:100024
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit...	ORPHA:98907
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Duodenal adenocarcinoma, Failure to thrive, Anemia	OMIM:174900
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:615486
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Astrocytoma, Insulin resistance, Lymphoma...	ORPHA:79086
Leber Congenital Amaurosis 1	Hepatomegaly, Hyperthreoninemia	OMIM:204000
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Oropharyngeal squamous cell carcinoma, Autoimmune hemolytic anemia, Inflammatory abnormality of t...	ORPHA:391487
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration ...	OMIM:615508
Chronic Mucocutaneous Candidiasis	Dyspareunia, Skin rash, Cheilitis, Hepatitis, Abnormal vagina morphology	ORPHA:1334
Hereditary Fructose Intolerance	Hepatomegaly, Reduced circulating aldolase concentration, Reactive hypoglycemia, Jaundice, Hyperm...	ORPHA:469
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Rheumatoid arthritis, Glycosuria, H...	ORPHA:589
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, M...	OMIM:615595
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Immunodeficiency 102	Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp...	OMIM:301082
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Facial capillary hemangioma, Hypoalbuminemia, Hypocholesterolemia, ...	OMIM:270400
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis, Arthritis, Decreased acid ceramidase activity, Fa...	OMIM:228000
D-Glyceric Aciduria	Hypoglycemia, Patent ductus arteriosus, Reduced hepatic D-glycerate kinase activity, Nonketotic h...	OMIM:220120
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia...	OMIM:618183
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia, Acne, Seborrheic dermatitis	OMIM:614441
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Elevated circula...	OMIM:615673
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Immunodeficiency 47	Elevated hepatic transaminase, Hepatomegaly, Normocytic anemia, Accessory spleen, Decreased circu...	OMIM:300972
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Hepatomegaly, Normocytic anemia, Pancytopenia, Myelodysplasia, Anemia of ...	ORPHA:75564
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Pituitary adenoma, Insulinoma, Increa...	OMIM:131100
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Hypochromic m...	OMIM:619423
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Lymphoma, Skin rash, Increased total bilirubin	ORPHA:90036
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Hypoglycemia, Seborrheic dermatitis, Hyperammonemia, Hyperleucinemia, Propi...	OMIM:210210
Maple Syrup Urine Disease	Hypoglycemia, Elevated circulating branched chain amino acid concentration, Pancreatitis, Elevate...	OMIM:248600
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:85414
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Hypoglycemia, Hyperammonemia, Cardiomegaly	ORPHA:391428
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Weight loss, Arthritis, Infectious encephalitis	ORPHA:42642
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Bronchiectasis, Arthritis, B lymphocytopenia, Re...	ORPHA:397596
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Elevated gamma-glutamyltransfer...	OMIM:619534
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Cholestasis, Hypocalcemia, Left ventricular hypertrophy, Diffuse he...	ORPHA:746
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Recurrent skin infections, Hypoglycemia, Herpes simplex encephalitis, Decreased pro...	OMIM:233600
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:300559
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, Micronodular cirrhosis, ...	OMIM:606003
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Hydrocele testis, Hypoalbuminemia, Ascites	ORPHA:567546
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin...	OMIM:613095
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance...	OMIM:615630
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:90673
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, Pancreatitis, Anemia	ORPHA:289916
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Decreased methionine synthase activity, Pancytopenia, Skin ...	OMIM:277380
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin...	OMIM:251110
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Aplastic anemia, Splenomegaly, Lymphoma...	OMIM:615122
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Hepatomegaly, ...	ORPHA:470
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Acute hyperammonemia, Myelodysplasia, Hyperglutaminemia, Hyperammonemia, Hyperalani...	ORPHA:927
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Yellow Fever	Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating aspartate aminotransferase conc...	ORPHA:99829
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:329178
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Epididymitis, Pyoderma, Conjunctivitis, Absent circu...	OMIM:307200
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Skin rash, Cholestasis	OMIM:105200
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Thrombocytopenia, Patent ductus arteriosus, Hepatosplenomegaly, Leukopenia, Hypoalbuminemia, Conj...	ORPHA:505248
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614859
Juvenile Polyposis Of Infancy	Refractory anemia, Cachexia, Patent ductus arteriosus, Hamartomatous polyposis, Anemia, Hypoalbum...	ORPHA:79076
Temple Syndrome	Small for gestational age, Precocious puberty, Cryptorchidism, Obesity, Recurrent hypoglycemia, T...	ORPHA:254516
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Neoplasm of t...	ORPHA:2584
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis	ORPHA:713
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Failure to thrive	ORPHA:2609
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Failure to thrive, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal ...	ORPHA:456312
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J...	OMIM:208500
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Stomat...	ORPHA:168577
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Leprechaunism	Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,...	ORPHA:508
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Capi...	ORPHA:163979
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,...	OMIM:618495
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Precocious puberty, Cry...	ORPHA:361
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Mac...	ORPHA:398124
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertension, He...	ORPHA:824
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Lymphoma, Recurrent pneumonia, Bronchiectasis, Neoplasm, Conjunctivit...	OMIM:240500
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:229700
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr...	OMIM:607594
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Patent ductus arteriosus,...	OMIM:613610
Spondyloenchondrodysplasia	Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thromboc...	ORPHA:1855
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Squamous cell carcinoma of the skin, Hypoalbuminemia, Failure to thriv...	ORPHA:79396
Addison Disease	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Premature ovarian insuffic...	ORPHA:85138
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Colitis, Neutrophilia, Myelodysplasia, Leukocytosis, Chronic hepatitis, Hepatospleno...	ORPHA:3260
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Hypoglycemia	ORPHA:48431
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elev...	ORPHA:17
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Hypospadias, Small for gestational age, Hypoglycemia, Cryptorchidism, Patent ductu...	OMIM:607143
Citrullinemia, Classic	Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat...	OMIM:215700
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc, Hypogonadism, Failure...	OMIM:201100
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia	OMIM:613986
Mucopolysaccharidosis Type 7	Splenomegaly, Ascites, Hepatitis	ORPHA:584
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, Pa...	ORPHA:811
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pan...	ORPHA:98908
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Hypereosinophi...	OMIM:615387
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Small for gestational age, Labial hypoplasia, Hypoglycemia	ORPHA:231137
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, B-cell lymphoma, Chronic...	ORPHA:91139
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Pancreatitis, Anemia	ORPHA:27
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Epididymitis, Neutropenia, Bronchiectasis, Recurrent pneumonia, T lymphocy...	OMIM:300755
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Acute colitis, Leukocytosis, Schistocytosis, Elevated circulating ...	ORPHA:90038
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Patent ductus arteriosus, Jaundice, Anemia, Type I diabete...	ORPHA:290
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Elevated circulating C-reactive protein conce...	OMIM:612852
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Myocardial necrosis, Pancyto...	OMIM:260400
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hydrocele testis, Hepatomegaly, Micropenis, Hypocholesterolemia	OMIM:618810
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Arthritis, Anemia	ORPHA:37748
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi...	ORPHA:97283
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Timothy Syndrome	Hypoglycemia, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Hypocalcemia	OMIM:601005
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Hyperproteinemia, Optic neur...	ORPHA:509
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp...	ORPHA:399808
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Chronic oral candidiasis, Decreased proportion of naive T cells, Lymphoproliferativ...	ORPHA:276
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin...	ORPHA:308552
Hypotonia-Cystinuria Syndrome	Failure to thrive, Hypergonadotropic hypogonadism, Hypocalcemia, Neonatal hypoglycemia	OMIM:606407
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Hepatomegaly, Microcytic anemia	OMIM:618852
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Cardio...	ORPHA:57777
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H...	OMIM:207900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Anemia, Infectious enceph...	ORPHA:319251
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia, Abnormality of the liver, Ascites, Hyperbilirubinemia	ORPHA:464321
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Infection associated neutropenia, Neutropenia, Hepatic steatosis, ...	ORPHA:445038
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m...	OMIM:608594
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,...	ORPHA:3226
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hy...	ORPHA:90062
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Inflammatory abnormality of ...	ORPHA:565612
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Splenomegaly...	OMIM:170100
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Weight loss, Neoplasm	ORPHA:391
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Cardiomegaly, Large for gestational age, Leiomyosarcoma, Neoplasm, Hepatob...	ORPHA:116
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Cryptorchidism, Erysipelas, Hypoalbuminemia	OMIM:235510
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Thrombocytopenia, Splenomegaly, Elevated circulating a...	OMIM:259700
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Follicular thyroid carc...	ORPHA:97282
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Hypoglycemia, Type I diabetes mellitus, D...	OMIM:616113
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Irregular menstruation, Infertility, Hypoglycemia	OMIM:615962
Immunodeficiency 54	Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Failure to thrive, Reduced natural kill...	OMIM:609981
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Megaloblastic anemia, Jaundice, Hyperamm...	ORPHA:79282
Infantile Refsum Disease	Hepatomegaly, Failure to thrive, Elevated circulating phytanic acid concentration	ORPHA:772
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Elevated gamma-glutamyltransferase...	OMIM:243800
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Cryptorchidism, Hyperammonemia, Infectious encephalitis	ORPHA:1194
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal...	ORPHA:79124
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin...	OMIM:251100
Post-Traumatic Pituitary Deficiency	Hypoglycemia, Hypogonadotropic hypogonadism, Infertility, Decreased testicular size, Amenorrhea	ORPHA:95619
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, P...	ORPHA:436159
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly	ORPHA:79292
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Portal vein hypoplasia, Ascites	OMIM:619433
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Skin rash, Hepatomegaly	OMIM:601979
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Hypoglycemia, Cryptorchidism...	ORPHA:397590
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Pituitary adenom...	ORPHA:97278
Zygomycosis	Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Diabetes mellitus, Hematological ne...	ORPHA:73263
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Sex reversal, Increased circulating renin level, Ambiguous ...	ORPHA:168558
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Lymphoma, Re...	ORPHA:47612
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Rectal...	ORPHA:436252
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp...	ORPHA:77297
Polymyositis	Hepatomegaly, Pericarditis, Elevated circulating creatine kinase concentration, Breast carcinoma,...	ORPHA:732
Dengue Fever	Hepatomegaly, Skin rash, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Decreased female libido, H...	ORPHA:95409
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, In...	ORPHA:98849
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Sex reversal, Increased circulating renin level, Ambiguous ...	ORPHA:289548
Galloway-Mowat Syndrome 3	Failure to thrive, Hypoalbuminemia	OMIM:617729
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Elevated gamma-glutamy...	OMIM:619573
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Cachexia, Splenomegaly, Myocarditis, Insulin ...	ORPHA:3452
Leigh Syndrome	Abnormal circulating enzyme concentration or activity, Failure to thrive, Hypoglycemia, Eczema, N...	ORPHA:506
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Failure to thrive, Hypospadias, Hypoglycemia, Splenomegaly, Hyperalaninemia, Hepati...	OMIM:252010
Transketolase Deficiency	Hepatomegaly, Seborrheic dermatitis, Patent ductus arteriosus, Uveitis, Secondary amenorrhea, Con...	ORPHA:488618
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hyperglycerolemia, Chronic pancrea...	OMIM:307030
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, B lymphocytope...	OMIM:301078
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis, Hepatosplenomegaly, Asci...	ORPHA:1655
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Skin rash, Hypercalcemia, Stomatitis, ...	ORPHA:97280
Degcags Syndrome	Hepatomegaly, Pancytopenia, Hypospadias, Pneumonia, Small for gestational age, Congenital hypopla...	OMIM:619488
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,...	ORPHA:355
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Abnormal ci...	ORPHA:79277
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, In...	OMIM:613839
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Patent ductus arteriosus, De...	OMIM:251290
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Neoplasm of the thymus, Intrahepatic chole...	ORPHA:97261
Generalized Glucocorticoid Resistance Syndrome	Acne, Hypoglycemia, Precocious puberty, Oligozoospermia, Hypokalemia, Increased circulating corti...	ORPHA:786
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus...	OMIM:214110
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, T...	ORPHA:39041
Acute Disseminated Encephalomyelitis	Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis	ORPHA:83597
Distal Xq28 Microduplication Syndrome	Patent ductus arteriosus, Neonatal hyperbilirubinemia	ORPHA:293939
Ogden Syndrome	Eczema, Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Patent ductus arterios...	OMIM:300855
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Sea-blue histiocytosis, Blepharitis, Thrombocytopenia	ORPHA:158029
Sepsis In Premature Infants	Hepatomegaly, Small for gestational age, Elevated circulating C-reactive protein concentration, T...	ORPHA:90051
Smith-Kingsmore Syndrome	Cryptorchidism, Hypoglycemia, Thrombocytopenia, Large for gestational age	OMIM:616638
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Clitoral hypertrophy, Hypoglycemia, Fused labia minora	OMIM:608688
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Small for gestational age, Hypoglycemia, Decreased body weight	ORPHA:391408
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Bifid scrotum, Failure to thrive, Osteomyelitis, Hypospadias, Over...	OMIM:619475
Sheehan Syndrome	Hyponatremia, Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Hypogly...	ORPHA:91355
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Pituitary adenoma, Impotence, Normoch...	ORPHA:95613
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ...	OMIM:613807
Galloway-Mowat Syndrome 1	Small for gestational age, Hypoalbuminemia	OMIM:251300
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ...	ORPHA:289390
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Aredyld Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Refractory anemia with ringed sideroblasts, Type II diabete...	ORPHA:1133
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:601859
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Hyperammonemia	OMIM:610678
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Low choleste...	OMIM:257220
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit...	OMIM:614874
Sotos Syndrome	Cryptorchidism, Patent ductus arteriosus, Increased body weight, Glucose intolerance, Otitis medi...	OMIM:117550
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle...	ORPHA:728
Autosomal Recessive Spastic Paraplegia Type 46	Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm...	ORPHA:320391
Ciliary Dyskinesia, Primary, 9	Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis, Recurren...	OMIM:612444
Perlman Syndrome	Hypoglycemia, Renal hamartoma, Large for gestational age, Cryptorchidism, Nephroblastomatosis, Pa...	OMIM:267000
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis, Ascites, Hypocalcemia, M...	OMIM:235255
Lead Poisoning	Decreased HDL cholesterol concentration, Decreased female libido, Skin rash, Small for gestationa...	ORPHA:330015
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Precocious puberty, Obesity, Hepatosplenomegaly, Cholecystitis, Recur...	OMIM:301066
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Male infertility, Decreased circulating cortisol level, Hypospadias, Precocious pu...	ORPHA:90793
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Leukocytosis, Jaundice, Hepatitis, Cheilitis, Arthritis, Co...	ORPHA:2331
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis...	OMIM:612840
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Cryptorchidism, Splenomegaly, Hypocalcemia	OMIM:618440
Argininemia	Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Portal fibrosis, Hyperargininemia	OMIM:207800
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop...	ORPHA:1304
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Erythroderma, Abnormality of the liver, Myeloproliferati...	ORPHA:79456
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Cryptorchidism, Recurrent hypoglycemia, Small for gestational age	OMIM:616817
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphoma, Acute le...	ORPHA:99812
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testi...	OMIM:605309
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Tropical Endomyocardial Fibrosis	Hepatomegaly, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Hypoalbuminemia, Ascites	ORPHA:75565
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Aplasia of the thymus, Eosinophilia, Pneumonia, Genital ulcers, ...	OMIM:602450
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Inflammatory abnormality of the skin, Failure to thrive, Increased circ...	OMIM:610768
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, A...	OMIM:616100
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Hyperamm...	OMIM:253260
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-reactiv...	ORPHA:319213
Silver-Russell Syndrome	Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec...	ORPHA:813
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ...	OMIM:216360
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly eleva...	OMIM:251900
Cystic Fibrosis	Male infertility, Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatospl...	OMIM:219700
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia, Recurrent pneumonia, Leukopenia, Neutropenia, Hepatic steatosis, Thrombocy...	OMIM:616271
Alström Syndrome	Hypoplasia of the Leydig cells, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Otiti...	ORPHA:64
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genita...	ORPHA:90794
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Neonatal hypoglycemia, Cardiomegaly, Adrenocortic...	OMIM:130650
Bloom Syndrome	Uveitis, Neoplasm, Neoplasm of the breast, Otitis media, Male infertility, Decreased proportion o...	ORPHA:125
Pearson Syndrome	Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocyt...	ORPHA:699
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Oligoarthritis, Hepatic amyloidosis, ...	OMIM:142680
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Visceral angiomatosis, Lymphoma, Hamartom...	ORPHA:109
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Psoriasiform dermat...	ORPHA:293978
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Failure to thrive, Recurrent hypoglycemia	OMIM:202200
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Car...	ORPHA:100080
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple...	OMIM:222700
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Obstructive azoospermia	OMIM:301060
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
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Pituitary Stalk Interruption Syndrome	Hypoplasia of penis, Hypoglycemia, Cryptorchidism, Primary amenorrhea, Failure to thrive	ORPHA:95496
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypogonadotropic hypogonadism, Hypoglycemia, Overweight, Prolonged neonatal jaundice, Abnormal ci...	ORPHA:226307
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, D...	ORPHA:280365
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocy...	ORPHA:77293
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Reynolds Syndrome	Hepatomegaly, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, Ascites, Inf...	ORPHA:779
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Hypogonadotropic hypogonadism, Impaired neutrophil c...	ORPHA:79318
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Pulmonary carcinoid tumor, Weight loss, Increased circulating cortisol l...	ORPHA:97287
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Hypoglycemia, Type II diabetes mellitus...	ORPHA:453533
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:603909
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Large for gestational age, Cryptorchidism, Hemangioma, Neonatal hypoglycemia	ORPHA:457485
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Failure to thrive,...	ORPHA:436271
Ciliary Dyskinesia, Primary, 45	Male infertility, Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms	OMIM:618801
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Failure to thrive, Anemia	OMIM:239200
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility, Chronic otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:300991
Combined Oxidative Phosphorylation Defect Type 39	Abnormal circulating enzyme concentration or activity, Neonatal hypoglycemia, Cryptorchidism	ORPHA:565624
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Thrombocytopenia	OMIM:617710
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Neu...	ORPHA:163956
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Decreased beta-galactosidase activity, Sea-...	OMIM:230600
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch...	OMIM:617091
Orthostatic Hypotension 1	Hypomagnesemia, Retrograde ejaculation, Neonatal hypoglycemia, Increased blood urea nitrogen	OMIM:223360
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Elevated circulating creatine kinase concentration	OMIM:619424
Rabson-Mendenhall Syndrome	Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Long penis,...	ORPHA:769
Syndromic Diarrhea	Hepatomegaly, Gastritis, Small for gestational age, Increased mean platelet volume, Splenomegaly,...	ORPHA:84064
Polycythemia Vera	Hepatomegaly, Myelodysplasia, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute le...	ORPHA:729
Niemann-Pick Disease, Type C2	Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Low cholesterol esterification rate, Splenom...	OMIM:607625
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Interstitial pneumonitis, Anemia	OMIM:620296
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes ...	OMIM:248370
Basilicata-Akhtar Syndrome	Precocious puberty, Hemangioma, Neonatal hypoglycemia	OMIM:301032
Sarcoidosis	Increased T cell count, Uveitis, Leukopenia, Tubulointerstitial nephritis, Hepatomegaly, Hemolyti...	ORPHA:797
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Bronchiectasis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella	OMIM:620197
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, B-cel...	OMIM:102700
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility, Recurrent otitis media, Asplenia	OMIM:618948
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Car...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Car...	ORPHA:100082
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Hypoplasia of penis, Hypospadias, Nephroblastoma, Hypoglycemia, Cryptorchidism, Spl...	ORPHA:373
Joubert Syndrome 8	Hepatomegaly, Obesity, Prolonged neonatal jaundice	OMIM:612291
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspirati...	ORPHA:173
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Hypoglycemia, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis...	OMIM:615577
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Hypoglycemia	OMIM:201910
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Steatorrhea, Hepatic fibrosis, Shawl scrotu...	OMIM:616263
Histiocytoid Cardiomyopathy	Hepatomegaly, Hypoglycemia, Cardiomegaly, Polycystic ovaries, Failure to thrive	ORPHA:137675
Mosaic Trisomy 9	Hypoplasia of penis, Asplenia, Cryptorchidism, Patent ductus arteriosus, Abnormal liver lobulatio...	ORPHA:99776
Diaphanospondylodysostosis	Nephroblastomatosis, Abnormal liver lobulation, Enlarged kidney	OMIM:608022
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cryptorchidism, Hyperbilirubinemia, Prolonged neonatal jaundice, Micropenis, Failure to thrive	OMIM:210710
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Abn...	OMIM:214500
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatic fibrosis, Cirrhosis, Hepatomegaly	OMIM:601539
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly...	OMIM:256040
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Failure to thrive, Steatorrhea, Neutropenia, Hyperechogenic panc...	OMIM:617941
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615356
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Aplasia of the thymus, Hydrocele testis, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun...	OMIM:620186
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia, Skin rash, Slender build	OMIM:617600
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia, Cryptorchidism, Decreased circulating cortisol level, Recurrent hy...	OMIM:620305
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Male infertility, Ambiguous genitalia, Hypospadias, Clitoral h...	ORPHA:90797
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:607398
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein c...	ORPHA:50918
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Primary hypercortisolism, Ovarian neoplasm, Intestin...	ORPHA:100079
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Anemia,...	OMIM:609069
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism,...	OMIM:612541
Deeah Syndrome	Hepatomegaly, Decreased hemoglobin concentration, Neonatal hypoglycemia, Cryptorchidism, Decrease...	OMIM:619004
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus, Failure to thrive, Hypoglycemia, Neutropenia	OMIM:618005
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Splenomegaly, Otitis ...	ORPHA:379
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia,...	ORPHA:2162
Houge-Janssens Syndrome 1	Hypoglycemia	OMIM:616355
Occipital Horn Syndrome	Jaundice, Hepatitis, Cholestasis, Esophagitis, Exostoses	ORPHA:198
Shashi-Pena Syndrome	Patent ductus arteriosus, Hypoglycemia	OMIM:617190
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropen...	OMIM:275350
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Weight loss, Iron deficiency anemia, Atypical pulmon...	ORPHA:100075
Tenorio Syndrome	Hypoglycemia, Recurrent pneumonia, Keratoconjunctivitis sicca, Recurrent aphthous stomatitis, Hyp...	OMIM:616260
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Familial Adenomatous Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad...	ORPHA:733
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Small for gestational age, Hypoglycemia, Microvesicular hepatic steatosis, Hyperammo...	OMIM:220111
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Cryptorchidism, Micropenis, Hypoglycemia, Facial capillary hemangioma	OMIM:620224
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Abnormality of neutrophils, Thrombocyt...	ORPHA:1775
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Panniculitis	OMIM:619183
Complete Androgen Insensitivity Syndrome	Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral crypto...	ORPHA:99429
3-Methylglutaconic Aciduria, Type Viii	Patent ductus arteriosus, Jaundice, Neutropenia, Failure to thrive, Neonatal hypoglycemia	OMIM:617248
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia, Decreased testicular size	OMIM:618086
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Hypogonadism, Hypoglycemic seizures	OMIM:262600
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Hypergonadotropic hypogonadism, Cardiomegaly, Retroperitoneal fibrosi...	OMIM:602782
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Abnormal circulating calcium concentration, Decreased fertility, Bronchiectasis, We...	ORPHA:60025
Glutaryl-Coa Dehydrogenase Deficiency	Abnormal circulating enzyme concentration or activity, Fasting hypoglycemia, Subependymal nodules	ORPHA:25
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Fused labia majora, Bifid scrotum, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Wars2-Related Combined Oxidative Phosphorylation Defect	Abnormal circulating enzyme concentration or activity, Neonatal hypoglycemia, Thrombocytopenia	ORPHA:572798
Coccidioidomycosis	Abnormal sperm morphology, Pericarditis, Osteomyelitis, Abscess, Eosinophilia, Pneumonia, Erythem...	ORPHA:228123
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Male infertility, Diabetes mellitus, Failure to thrive in infancy, Sp...	OMIM:219800
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Insulin resistance, E...	ORPHA:96182
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Glycosuria, Hypokalemi...	ORPHA:3337
Ciliary Dyskinesia, Primary, 19	Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusit...	OMIM:614935
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic...	OMIM:203700
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Menkes Disease	Exostoses, Osteomyelitis, Hypoglycemia, Prolonged neonatal jaundice	ORPHA:565
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Asplenia, Bronchiectasis, Chronic sinusitis, Recurrent otit...	ORPHA:244
Porphyria, Congenital Erythropoietic	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Conjunctivitis, Elevated circulating urop...	OMIM:263700
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Crypto...	OMIM:227650
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Conjunctivitis, Cholecystitis, Mo...	ORPHA:99827
Ciliary Dyskinesia, Primary, 1	Male infertility, Pneumonia, Asplenia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis...	OMIM:244400
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoglycemia	OMIM:620275
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia	ORPHA:457279
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr...	ORPHA:8
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility, Recurrent otitis media, Abdominal situs inversus, Chronic sinusitis	OMIM:619607
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Keratoconjunctivitis sicca, Hypoglycemia	OMIM:616007
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Kabuki Syndrome 2	Recurrent otitis media, Neonatal hypoglycemia, Decreased body weight	OMIM:300867
Spermatogenic Failure 14	Male infertility, Azoospermia	OMIM:615842
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Cerebral Visual Impairment	Infectious encephalitis, Neonatal hypoglycemia	ORPHA:447788
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia, Erythroderma	ORPHA:35173
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Precocious puberty, Cry...	ORPHA:96191
Sotos Syndrome	Sacrococcygeal teratoma, Astrocytoma, Hypospadias, Hypercalcemia, Neonatal hypoglycemia, Phimosis...	ORPHA:821
Oculodentodigital Dysplasia	Hypoglycemia	ORPHA:2710
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Hypoglycemia	OMIM:614501
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Costello Syndrome	Hypoglycemia, Rhabdomyosarcoma, Bladder carcinoma, Vestibular schwannoma, Failure to thrive	OMIM:218040
Congenital Disorder Of Glycosylation, Type Iim	Vesicovaginal fistula, Neonatal hyperbilirubinemia	OMIM:300896
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Non-Acquired Panhypopituitarism	Hypoglycemia, Hypogonadotropic hypogonadism, Infertility, Decreased testicular size, Amenorrhea	ORPHA:90695
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Micropenis, Slender build, Neonatal hypoglycemia, Large for gestational age	ORPHA:457359
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia, Ascites, Enlarged kidney, Cardiomegaly	OMIM:261740
Noonan Syndrome 1	Male infertility, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Hypospadias...	OMIM:163950
Renal Agenesis, Bilateral	Nonketotic hypoglycemia, Abnormal morphology of female internal genitalia	ORPHA:1848
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia, Hypogonadotropic hypogonadism, Infertility, Decreased testicular size, Amenorrhea	ORPHA:95494
Holoprosencephaly 1	Micropenis, Hypoglycemia	OMIM:236100

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 Entpd5

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 Entpd5.

No publications found that use IMPC mice or data for Entpd5.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Entpd5^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Entpd5^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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