Gene: Glmp MGI:1913318

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

glycosylated lysosomal membrane protein

Synonyms:

0610031J06Rik, NCU-G1

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 Glmp 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 Glmp (0 diseases)
Human diseases predicted to be associated with Glmp (577 diseases)

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

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

Disease	Matching phenotypes	Source
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep...	OMIM:616860
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis...	OMIM:614480
Hemochromatosis, Type 2B	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep...	OMIM:613313
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir...	OMIM:619658
Glycine N-Methyltransferase Deficiency	Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated...	OMIM:616278
African Iron Overload	Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno...	ORPHA:139507
Porphyria Cutanea Tarda	Increased circulating ferritin concentration, Recurrent bacterial skin infections, Viral hepatiti...	ORPHA:101330
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf...	ORPHA:300298
Gracile Syndrome	Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles...	ORPHA:53693
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis...	OMIM:231100
Diamond-Blackfan Anemia 19	Steroid-responsive anemia, Anemia, Erythroid hypoplasia	OMIM:618312
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increased serum iron, ...	ORPHA:446
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep...	OMIM:278000
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos...	OMIM:300635
Anemia, Hypochromic Microcytic, With Iron Overload 1	Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver	OMIM:206100
Splenoportal Vascular Anomalies	Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous...	OMIM:271500
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein...	OMIM:619662
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot...	ORPHA:444463
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Hemochromatosis Type 2	Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Conge...	ORPHA:79230
Cyanosis And Hepatic Disease	Abnormal abdomen morphology, Hepatitis	OMIM:219400
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly	OMIM:616719
Cirrhosis, Familial	Cirrhosis, Hepatitis, Chronic active hepatitis	OMIM:118900
Citrullinemia, Type Ii, Adult-Onset	Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Elevated gamma-glutamyl...	OMIM:603471
Beta-Thalassemia Intermedia	Cholelithiasis, Decreased mean corpuscular volume, Anemia of inadequate production, Abnormality o...	ORPHA:231222
Glycogen Storage Disease Iii	Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepati...	OMIM:232400
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci...	ORPHA:369
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Eczema, Hepatic fibrosis	OMIM:176090
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin...	OMIM:613759
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Decreased liver function, Neutropenia, Hepatomegaly...	ORPHA:158061
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Ane...	OMIM:205950
Halothane Hepatitis	Eosinophilia, Hepatitis, Viral hepatitis, Jaundice	OMIM:234350
Fadd-Related Immunodeficiency	Decreased liver function, Hepatic fibrosis	ORPHA:306550
Hemochromatosis Type 4	Increased circulating ferritin concentration, Cirrhosis, Congenital hepatic fibrosis, Generalized...	ORPHA:139491
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail...	OMIM:613812
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Bile Acid Synthesis Defect, Congenital, 4	Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Elevated hepatic transam...	OMIM:214950
Coach Syndrome 2	Congenital hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatinine conce...	OMIM:619111
Glycogen Storage Disease Vi	Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride...	OMIM:232700
Gallbladder Disease 1	Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi...	OMIM:600803
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox...	OMIM:206000
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:619868
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c...	OMIM:616828
Alpha-1-Antitrypsin Deficiency	Hepatitis, Hepatomegaly, Jaundice, Hepatic failure	ORPHA:60
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated circulating alkaline phosphatase concentration, Periportal fibrosis, Elevated gamma-glut...	OMIM:619484
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Enlarged kidney, Elevated hepatic transa...	OMIM:619902
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ...	OMIM:616829
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran...	OMIM:619858
Parenteral Nutrition-Associated Cholestasis	Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Elev...	ORPHA:567983
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Increased circulating ferritin concentration, Cholelithiasis, Hepatomegaly, Splenomegaly, Increas...	OMIM:194380
Bile Acid Malabsorption, Primary, 2	Periportal fibrosis, Elevated circulating aspartate aminotransferase concentration, Copper accumu...	OMIM:619481
Nphp3-Related Meckel-Like Syndrome	Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology	ORPHA:3032
Hepatoportal Sclerosis	Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P...	ORPHA:64743
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Hepatosplenomegaly, Hepatic fibrosis, Acute hepatic failure	ORPHA:466794
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Cirrhosis,...	OMIM:607765
Aceruloplasminemia	Increased circulating ferritin concentration, Abnormal pancreas morphology, Abnormality of retina...	ORPHA:48818
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c...	OMIM:620010
Pediatric Hepatocellular Carcinoma	Elevated alpha-fetoprotein, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis	ORPHA:33402
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Increased hepatic glycogen content, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hypoglycem...	ORPHA:293964
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,...	ORPHA:766
Adult-Onset Still Disease	Elevated circulating C-reactive protein concentration, Neutrophilia, Hepatomegaly, Abnormal circu...	ORPHA:829
Mpi-Cdg	Decreased liver function, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic fibrosis, Hypo...	ORPHA:79319
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,...	OMIM:237800
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct...	OMIM:617394
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubinemia, Splenomegaly, ...	OMIM:251880
Nephronophthisis 19	Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation	OMIM:616217
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ...	OMIM:269600
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis	OMIM:619398
Infantile Liver Failure Syndrome 3	Hepatomegaly, Hyperammonemia, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic ...	OMIM:618641
Retinitis Pigmentosa 89	Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis, Intrahepatic bile duct dilatation	OMIM:618955
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega...	OMIM:214900
Beta-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Abnormality of iron homeostasis,...	ORPHA:848
Caroli Disease	Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce...	ORPHA:53035
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly	ORPHA:46532
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure	OMIM:261650
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Cholestatic liver disease	OMIM:602114
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,...	OMIM:610021
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Jaundice	OMIM:312500
Complement Component 4B Deficiency	Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia, Recurrent otitis media	OMIM:614379
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ...	ORPHA:263458
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase...	ORPHA:79303
Griscelli Syndrome	Hepatomegaly, Abnormal circulating lipid concentration, Splenomegaly, Leukopenia, White hair, Thr...	ORPHA:381
Autoimmune Hepatitis	Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi...	ORPHA:2137
Hemoglobin H Disease	Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic...	OMIM:603902
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans...	OMIM:617156
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep...	OMIM:615234
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Elevated circulating cr...	ORPHA:370
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatic steatosis, Hepatic fibrosis	ORPHA:280356
Wilson Disease	Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Thrombocytopenia, ...	ORPHA:905
Cyanosis, Transient Neonatal	Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice	OMIM:613977
Congenital Disorder Of Glycosylation, Type Iih	Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera...	OMIM:611182
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Hepatomegaly	OMIM:615158
X-Linked Sideroblastic Anemia	Splenomegaly, Abnormality of iron homeostasis, Elevated hepatic transaminase, Hyperpigmentation o...	ORPHA:75563
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Skin rash, Splenomegaly	OMIM:619175
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Unconjugated hyperbilirubinemia, Hepatic failure	OMIM:143500
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Hepatomegaly	OMIM:609016
Alpha-1-Antitrypsin Deficiency	Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated he...	OMIM:613490
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ...	OMIM:610717
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Arthritis, Elevated hepatic...	OMIM:604250
Primary Biliary Cholangitis	Elevated circulating alkaline phosphatase concentration, Abnormal circulating lipid concentration...	ORPHA:186
Atransferrinemia	Abnormality of the liver, Atransferrinemia, Hypochromic anemia	OMIM:209300
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Osteo...	OMIM:606069
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis	OMIM:601820
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl...	OMIM:603552
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly	ORPHA:158
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic failure, Cirrhosis, Hepatic fibrosis, Hypoalbuminemia, Lymphangiectasis	OMIM:602579
Congenital Isolated Acth Deficiency	Hepatitis, Hypoglycemic seizures, Hyponatremia, Prolonged neonatal jaundice, Neonatal hypoglycemia	ORPHA:199296
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Elevated circulating cr...	ORPHA:264580
Hepatitis, Fulminant Viral, Susceptibility To	Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Hashimoto thyr...	OMIM:618549
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Hepatic failure, Abnormal mitochondrial morphology, Cholestasis, Elevated hepatic t...	OMIM:618528
Congenital Bile Acid Synthesis Defect Type 4	Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Abnormal enzyme/coenzyme activit...	ORPHA:79095
Immunodeficiency 47	Exocrine pancreatic insufficiency, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Cirrh...	OMIM:300972
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Hypoproteinemia, Splenomegaly, Leukocytosis, Lymphadenitis, Elevated circulating cr...	OMIM:615895
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid...	OMIM:133180
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas, Arthritis	ORPHA:1195
Interstitial Lung And Liver Disease	Hepatomegaly, Hyperammonemia, Hepatic failure, Cirrhosis, Intraalveolar phospholipid accumulation...	OMIM:615486
X-Linked Agammaglobulinemia	Sinusitis, Hypocalcemia, Osteomyelitis, Skin rash, Abnormality of the lymphatic system, Chronic o...	ORPHA:47
Citrullinemia Type Ii	Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ...	ORPHA:247585
Transaldolase Deficiency	Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp...	OMIM:606003
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Isolated Biliary Atresia	Decreased liver function, Hepatomegaly, Periportal fibrosis, Elevated circulating alkaline phosph...	ORPHA:30391
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis...	ORPHA:541423
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Increased erythrocyte protoporphyrin concentration, Elevated hepatic transaminase...	OMIM:300752
Immunodeficiency 104	Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid...	OMIM:608971
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr...	OMIM:607616
Galactosemia Iii	Hepatomegaly, Decreased beta-galactosidase activity, Splenomegaly, Hypergalactosemia, Jaundice	OMIM:230350
Cholestasis, Intrahepatic, Of Pregnancy, 1	Increased serum bile acid concentration during pregnancy, Elevated hepatic transaminase, Abnormal...	OMIM:147480
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ...	ORPHA:79301
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Elevated circulating cr...	ORPHA:79240
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Chronic oral candidiasis, Otitis media, Eosinophilia, Hepatosplenomegaly, Hepatitis,...	ORPHA:169160
Congenital Enterovirus Infection	Leukocytosis, Hyperammonemia, Hepatic failure, Skin rash, Leukopenia, Cholestasis, Abnormal macro...	ORPHA:292
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis...	OMIM:615631
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Hepatic failure, Splenomegaly, Cholestasis, Hepatic fibrosis	OMIM:615630
Biliary Atresia, Extrahepatic	Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transaminase, Increased total bilir...	OMIM:210500
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc...	OMIM:619991
Tyrosinemia Type 1	Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly	ORPHA:882
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Congenital hepatic fibrosis	ORPHA:3156
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig...	ORPHA:209902
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Cirr...	ORPHA:231226
Caroli Syndrome	Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Elevated circulating alkaline phosphatase concent...	ORPHA:480520
Hepatic Veno-Occlusive Disease	Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Ascites, Jaundice	ORPHA:890
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Cholestasis With Gallstone, Ataxia, And Visual Disturbance	Cholelithiasis, Giant cell hepatitis, Jaundice	OMIM:214980
Primary Sclerosing Cholangitis	Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Cholestasis, Chronic hepatic fail...	ORPHA:171
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Necrotizing enterocol...	OMIM:201475
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly	OMIM:179700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonep...	OMIM:304790
Bile Acid Conjugation Defect 1	Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Con...	OMIM:619232
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosi...	OMIM:308240
Senior-Boichis Syndrome	Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Reduced n...	ORPHA:84081
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb...	OMIM:615285
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia	OMIM:608898
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Hemochromatosis, Type 2A	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Arthritis, H...	OMIM:602390
Graft Versus Host Disease	Inflammatory abnormality of the skin, Elevated circulating alkaline phosphatase concentration, Hy...	ORPHA:39812
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy...	OMIM:616689
Trichohepatoenteric Syndrome 2	Colitis, Hepatomegaly, Cirrhosis, Chronic hepatitis, Decreased serum iron	OMIM:614602
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Elevated hepatic transaminase, De...	OMIM:301045
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H...	OMIM:306000
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Spleno...	OMIM:235555
Immunodeficiency 69	Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Skin rash, Hepatospleno...	OMIM:618963
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Dpm1-Cdg	Hepatomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concentration, Elevated he...	ORPHA:79322
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Hyperbilirubi...	ORPHA:562639
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Cholestasis, Enlarged kidney, Hepatic fibrosis, Asplenia	OMIM:615415
Combined Oxidative Phosphorylation Deficiency 30	Hyperalaninemia, Left ventricular hypertrophy, Decreased liver function, Elevated hepatic transam...	OMIM:616974
Immunodeficiency 56	Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis, Recurrent sinusit...	OMIM:615207
Avian Influenza	Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat...	ORPHA:454836
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating creatin...	OMIM:614921
Nephronophthisis 16	Patent ductus arteriosus, Periportal fibrosis, Cholestasis, Enlarged kidney	OMIM:615382
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Abnormality of the hepatic vasculature, Hepatosplen...	ORPHA:210136
Alpha-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J...	ORPHA:846
Coach Syndrome 1	Abnormal abdomen morphology, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrh...	OMIM:216360
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Pustule, Acute hepatic failure, Skin rash, Eosinophilia, Interstitial pneumonitis,...	ORPHA:139402
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ...	OMIM:600649
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis	OMIM:616629
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation...	OMIM:208540
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi...	ORPHA:75234
Dehydrated Hereditary Stomatocytosis	Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor...	ORPHA:3202
Meckel Syndrome, Type 3	Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate	OMIM:607361
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Cholestatic liver disease, Hepatomegaly, Right ventricular hypertrophy, Ele...	OMIM:613404
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hepatic failure, Hypoglycemia, Pancytopenia, Hepatic steatosis	OMIM:617872
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E...	ORPHA:231214
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the you...	ORPHA:324575
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Hepatic failure, Cir...	ORPHA:79302
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Chilblains, Pericarditis, Acute p...	OMIM:619487
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Hepatosplenomegaly, Thrombocytopenia, Chilblains	OMIM:610329
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Gastritis, Eczema, Decreased prealbumin level, Pneumonia, Eczematoid dermatitis, Colitis, Osteomy...	ORPHA:37042
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly	ORPHA:231393
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B...	OMIM:602347
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice	ORPHA:172
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ...	ORPHA:33110
Congenital Respiratory-Biliary Fistula	Abnormality of the liver	ORPHA:2040
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hyperornithinemia, Hepatomegaly, Hyperammonemia, Acute hepatitis	OMIM:238970
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reduced level of N-acetylglucosami...	OMIM:224100
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri...	OMIM:613027
Joubert Syndrome 9	Hepatic fibrosis	OMIM:612285
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei...	ORPHA:158057
Legionnaires Disease	Pancreatitis, Lymphopenia, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Infectious encepha...	ORPHA:549
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru...	OMIM:613673
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Chronic oral candidiasis, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepati...	OMIM:308230
Melioidosis	Splenic abscess, Prostatitis, Osteoarthritis, Abnormality of the spleen, Parotitis, Acute infecti...	ORPHA:31202
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Nonspherocytic hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Normocytic ane...	OMIM:235700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Microvesicular hepatic steatosis, Hepatomegaly, Elevated circulating alkaline phosphatase concent...	OMIM:300868
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, S...	OMIM:224120
Dpm3-Cdg	Elevated creatine kinase after exercise, Elevated hepatic transaminase	ORPHA:263494
Autoimmune Lymphoproliferative Syndrome, Type Iii	Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Increased prop...	OMIM:615559
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Bilia...	ORPHA:1414
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration	OMIM:612937
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Increased serum bile acid concentration during pr...	OMIM:614972
Lysosomal Acid Lipase Deficiency	Decreased liver function, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Elevated circ...	ORPHA:275761
Propionic Acidemia	Hypoglycemia, Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hyperammonemia	ORPHA:35
Harderoporphyria	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hemolytic anemia, Hyper...	OMIM:618892
Immunodeficiency By Defective Expression Of Mhc Class Ii	Acute otitis media, Sinusitis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies,...	ORPHA:572
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ...	OMIM:619463
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia, Cholestatic liver disease, Hypochromic microcytic anemia, Cholestasis...	ORPHA:440713
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Leishmaniasis	Hepatomegaly, Rhinitis, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopeni...	ORPHA:507
Nodular Regenerative Hyperplasia Of The Liver	Abnormality of the hepatic vasculature, Portal hypertension	ORPHA:48372
Trichohepatoenteric Syndrome 1	Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Generalized hypopigmentation, Cholestasis...	OMIM:222470
Hypermethioninemia Due To Adenosine Kinase Deficiency	Decreased liver function, Hyperbilirubinemia, Cholestasis, Hypermethioninemia, Elevated hepatic t...	OMIM:614300
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Hepatic failure, Splenomegaly, Hyperammonemia	ORPHA:664
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod...	ORPHA:54251
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase	OMIM:617093
Bacterial Toxic-Shock Syndrome	Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Septic arthritis,...	ORPHA:36234
Lichen Planopilaris	Hepatitis, Hypopigmented skin patches	ORPHA:525
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple...	OMIM:613101
Hemochromatosis, Type 1	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellul...	OMIM:235200
Osteootohepatoenteric Syndrome	Hypokalemia, Microvesicular hepatic steatosis, Cholestasis, Hepatic fibrosis, Prolonged neonatal ...	OMIM:619377
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Keratoconjun...	ORPHA:91138
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Cholestatic liver disease, Intrahepatic biliary atresia, Right ventricular ...	OMIM:208085
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ...	OMIM:610199
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, H...	OMIM:601847
Griscelli Syndrome Type 2	Hyperlipidemia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Pancytope...	ORPHA:79477
Argininosuccinic Aciduria	Hepatomegaly, Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia, Hyperglutaminemia, ...	OMIM:207900
Laurence-Moon Syndrome	Congenital hepatic fibrosis	ORPHA:2377
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato...	ORPHA:369840
Autoimmune Polyendocrine Syndrome, Type Ii	Exocrine pancreatic insufficiency, Type II diabetes mellitus, Cirrhosis, Chronic hepatitis, Kerat...	OMIM:269200
Sickle Cell Anemia	Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o...	ORPHA:232
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch...	OMIM:266200
Disorder Of Bile Acid Synthesis	Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality	ORPHA:79168
Isobutyryl-Coa Dehydrogenase Deficiency	Decreased plasma carnitine, Anemia	OMIM:611283
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Decreased liver function, Hyperammonemia, Increased serum pyruvate, Elevated circulating sebacic ...	OMIM:615160
Q Fever	Osteomyelitis, Hepatomegaly, Splenomegaly, Maculopapular exanthema, Hepatosplenomegaly, Endocardi...	ORPHA:781
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Periportal fibrosis, Splenomegaly, Enlarged kidney, Hepatic cysts, Portal hypertens...	OMIM:263200
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Spl...	ORPHA:731
Hypermanganesemia With Dystonia 1	Decreased liver function, Hepatomegaly, Polycythemia, Cirrhosis, Elevated hepatic transaminase, H...	OMIM:613280
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepati...	OMIM:255120
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:619386
Erythrocytosis, Familial, 8	Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C...	OMIM:222800
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ...	OMIM:619849
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Acute hepatic failure, Cirrhos...	ORPHA:228426
Syndromic Diarrhea	Colitis, Hepatomegaly, Hepatoblastoma, Lymphopenia, Splenomegaly, Gastritis, Cirrhosis, Hypoplasi...	ORPHA:84064
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Increased circulating lactate dehyd...	ORPHA:3203
Hardikar Syndrome	Hepatomegaly, Hepatic failure, Cholestasis, Prolonged neonatal jaundice, Bile duct proliferation,...	OMIM:301068
Wilson Disease	Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Por...	OMIM:277900
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis...	OMIM:185000
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, E...	OMIM:617713
Low Phospholipid-Associated Cholelithiasis	Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang...	ORPHA:69663
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:614034
Immunodeficiency 91 And Hyperinflammation	Elevated circulating C-reactive protein concentration, Neutrophilia, Hepatomegaly, Hemophagocytos...	OMIM:619644
Farber Disease	Abnormal enzyme/coenzyme activity, Hepatic failure, Hepatosplenomegaly, Arthritis, Elevated hepat...	ORPHA:333
Abetalipoproteinemia	Abnormal circulating apolipoprotein concentration, Abnormality of retinal pigmentation, Hepatomeg...	ORPHA:14
Congenital Disorder Of Glycosylation, Type Iij	Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Splenomeg...	OMIM:613489
Trimethylaminuria	Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly	OMIM:602079
Myopathy, Congenital, Nonprogressive	Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Patent ductus ...	OMIM:619967
Benign Recurrent Intrahepatic Cholestasis	Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele...	ORPHA:65682
Dyskeratosis Congenita, Autosomal Dominant 2	Neutropenia, Leukopenia, Aplastic anemia, Hepatic fibrosis, Pancytopenia, Bone marrow hypocellula...	OMIM:613989
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste...	OMIM:612526
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma...	ORPHA:98848
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Peroxisome Biogenesis Disorder 1B	Cirrhosis, Hepatic fibrosis, Hepatomegaly, Hyperoxaluria	OMIM:601539
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Formiminoglutamic Aciduria	Megaloblastic anemia, Anemia, Abnormal enzyme/coenzyme activity, Abnormal circulating histidine c...	ORPHA:51208
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro...	OMIM:610333
Bare Lymphocyte Syndrome, Type Ii	Colitis, Viral hepatitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Infectiou...	OMIM:209920
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminas...	ORPHA:858
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th...	OMIM:209950
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Hyperammonemia, Decreased plasma carnitine, Elevated hepatic transaminase, Decrease...	OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypoglycemia, Elevat...	OMIM:619048
Spherocytosis, Type 2	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi...	OMIM:616649
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hyperammonemia	OMIM:615453
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Cirrhosis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concentration, Chol...	OMIM:609313
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi...	OMIM:182900
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Elevated circula...	ORPHA:228305
Spherocytosis, Type 4	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:612653
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen...	ORPHA:75564
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C...	OMIM:619802
Donohue Syndrome	Pancreatic islet-cell hyperplasia, Hypermelanotic macule, Hepatic fibrosis, Cholestasis	OMIM:246200
Autoimmune Polyendocrinopathy Type 4	Thymoma, Iridocyclitis, Rheumatoid arthritis, Leukopenia, Autoimmune thrombocytopenia, Macrocytic...	ORPHA:227990
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Glycogen Storage Disease Vii	Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Hemolytic anemia,...	OMIM:232800
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease...	ORPHA:540
Dihydrolipoamide Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated hepatic transaminase	OMIM:246900
Myasthenia Gravis	Rheumatoid arthritis, Glycosuria, Myositis, Hemolytic anemia, Hepatitis, Pure red cell aplasia, H...	ORPHA:589
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Microcytic anemia, Hypoa...	OMIM:619013
Solute carrier family 4 (anion exchanger), member 1	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis...	OMIM:109270
Joubert Syndrome With Hepatic Defect	Neoplasm of the liver, Hepatomegaly, Splenomegaly, Intrahepatic biliary atresia, Cirrhosis, Conge...	ORPHA:1454
Mcleod Syndrome	Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Elevated circulat...	OMIM:300842
Budd-Chiari Syndrome	Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Elevate...	ORPHA:131
Anemia, Congenital Dyserythropoietic, Type Iiia	Anemia of inadequate production, Congenital hypoplastic anemia, Increased circulating lactate deh...	OMIM:105600
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Thrombocytosis, Hypocholesterolemia, Elevated hepatic transaminase, Hepatic fibrosi...	OMIM:212065
Aspergillosis	Keratitis, Sinusitis, Osteomyelitis, Eosinophilia, Hepatitis, Infectious encephalitis, Pneumonia,...	ORPHA:1163
Infantile Liver Failure Syndrome 1	Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He...	OMIM:615438
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hepatic failure, Low plasma citrulline, Hypoglycemia, Elevated circulating alanine ...	OMIM:261680
Alstrom Syndrome	Chronic active hepatitis, Hepatomegaly, Nephritis, Otitis media, Decreased HDL cholesterol concen...	OMIM:203800
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M...	OMIM:614470
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis	OMIM:603529
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Elevated alpha-fetoprotein, Cirrhosis, Hyperammonemia, Elevated circulating aspa...	OMIM:617049
Cirrhosis, Familial	Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Increased level of propylene glycol in bl...	OMIM:215600
Lipoyltransferase 1 Deficiency	Decreased liver function, Increased total bilirubin, Elevated hepatic transaminase	OMIM:616299
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Hyperprolinemia, Elevated hepatic transaminase, Hyperalaninemia, Cardiomegaly	OMIM:619064
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Splenomegaly, Hepatitis, Hashimoto thyroiditis, Portal hypertension, Pancytopenia, ...	OMIM:613385
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Cirrhosis, Elevated gamma-glutamyltransferase level, Elevated hepatic transaminase, Hypoalbuminem...	OMIM:242150
Telangiectasia, Hereditary Hemorrhagic, Type 5	Elevated hepatic transaminase, Portal hypertension	OMIM:615506
Glycogen Storage Disease Xii	Nonspherocytic hemolytic anemia, Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ...	OMIM:611881
Liver Failure, Infantile, Transient	Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Acute hepatic failure, Macrov...	OMIM:613070
Autoimmune Polyendocrinopathy Type 3	Thymoma, Iridocyclitis, Rheumatoid arthritis, Leukopenia, Autoimmune thrombocytopenia, Macrocytic...	ORPHA:227982
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hyperornithinemia, Hepatomegaly, Hyperammonemia, Hepatic failure, Abnor...	ORPHA:415
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Elevated hep...	ORPHA:98870
X-Linked Lymphoproliferative Disease	Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad...	ORPHA:2442
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Abnormal muscle glycogen content, Decreased liver function, Hepatomegaly, Hepatic failure, Cirrho...	ORPHA:367
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi...	OMIM:601775
Thymic Aplasia	Decreased proportion of naive T cells, Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis...	ORPHA:83471
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Uveitis, Bone marrow hypoce...	ORPHA:3261
Meckel Syndrome, Type 6	Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Cystic liver disease	OMIM:612284
Bardet-Biedl Syndrome	Hepatic fibrosis, Pigmentary retinopathy	ORPHA:110
Refractory Celiac Disease	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Inflammatory abnormality of the skin, Hypoprotein...	ORPHA:398063
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Nonspherocytic hemolytic anemia, Decreased glucosephosphate isomerase level, Sple...	OMIM:613470
Sea-Blue Histiocytosis	Blepharitis, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Hypopigmentation of the skin, Me...	ORPHA:158029
Late-Onset Isolated Acth Deficiency	Eosinophilia, Normocytic anemia, Macrocytic anemia, Hypoglycemia, Hepatitis, Type I diabetes mell...	ORPHA:199299
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly, Hyperammonemia	ORPHA:28
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Hemophagocytosis, Sp...	OMIM:603553
Omenn Syndrome	Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym...	OMIM:603554
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Hyperpigmentation of the skin, Hepatic fibrosis, Bone marrow hypocellularity, Th...	OMIM:224230
Systemic-Onset Juvenile Idiopathic Arthritis	Elevated circulating C-reactive protein concentration, Hepatomegaly, Skin rash, Splenomegaly, Juv...	ORPHA:85414
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis	OMIM:610688
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy	ORPHA:66661
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Hyperammonemia, Hepatic failure, Hyperisoleucinemia, Decreased plasma carnitine, El...	ORPHA:2394
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Hypermethioni...	ORPHA:247598
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Jaundice, I...	OMIM:211600
Cog4-Cdg	Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Elevated ...	ORPHA:263501
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia	OMIM:618752
Ebola Hemorrhagic Fever	Lymphopenia, Maculopapular exanthema, Leukopenia, Acute pancreatitis, Hepatitis, Thrombocytopenia	ORPHA:319218
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Unconjugated hyperbilirubinemia, Stomatocytosis	OMIM:268150
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase conc...	ORPHA:42
Mucopolysaccharidosis Type 7	Hepatitis, Ascites, Splenomegaly	ORPHA:584
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Pustule, Elevated creatine kinase after exercise, Elevated hepatic transaminase, Superficial derm...	ORPHA:284426
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Exocrine pancreatic insufficiency, Lymphopenia, Elevated circulating alkaline phosphatase concent...	OMIM:620005
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Enlarged kidney, Hepatic fibrosis, Polysplenia, Ascites	OMIM:200995
B4Galt1-Cdg	Inflammatory abnormality of the skin, Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomega...	ORPHA:79332
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Nephritis, Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Hepatic ...	OMIM:208500
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Osteomyelitis leading to amputation due to slow healing fractures, Microvesicular hepatic steatos...	OMIM:256810
Pyruvate Carboxylase Deficiency	Hyperalaninemia, Increased serum pyruvate, Hypoglycemia, Hepatomegaly	OMIM:266150
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Gastritis, B lymphocytopenia, Pneumonia, D...	OMIM:619381
Hereditary Elliptocytosis	Cholelithiasis, Prolonged neonatal jaundice, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, ...	ORPHA:288
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Skin rash, Sple...	OMIM:612714
Rh Deficiency Syndrome	Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem...	ORPHA:71275
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent otitis media, Viral hepatitis, Skin rash, Recurrent tonsillitis, Rhe...	ORPHA:183675
Transaldolase Deficiency	Cirrhosis, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Anemia, Thrombocytop...	ORPHA:101028
Mody	Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly...	ORPHA:552
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles...	OMIM:267700
Infantile Liver Failure Syndrome 2	Acute hepatic failure, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Jaundice	OMIM:616483
Proteasome-Associated Autoinflammatory Syndrome 3	Sinusitis, Hepatomegaly, Lymphopenia, Skin rash, Splenomegaly, Myositis, Thrombocytopenia, Arthri...	OMIM:617591
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Elliptocytosis 3	Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ...	OMIM:617948
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod...	OMIM:300908
Immune Deficiency Disease	Fulminant hepatitis, Cholangitis	OMIM:242850
Immunodeficiency 102	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p...	OMIM:301082
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Hepatomegaly, Skin rash, Splenomegaly, Atopic derma...	OMIM:615846
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Enterocolitis, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymp...	OMIM:243150
Sitosterolemia 1	Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Arthritis, Increased circulating...	OMIM:210250
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Transient hyperlipidemia, Hepatomegaly, Hepatic failure	ORPHA:156
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi...	OMIM:618398
Nephronophthisis 3	Hepatic fibrosis	OMIM:604387
Hereditary Spherocytosis	Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hem...	ORPHA:822
Wolman Disease	Hepatomegaly, Splenomegaly, Hepatic failure, Anemia, Bone-marrow foam cells, Ascites	ORPHA:75233
Anemia, Sideroblastic, 1	Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ...	OMIM:300751
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d...	ORPHA:158048
Lymphoproliferative Syndrome 1	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:613011
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration	OMIM:618838
Neonatal Lupus Erythematosus	Neutropenia, Hepatomegaly, Skin rash, Splenomegaly, Hepatic failure, Maculopapular exanthema, Apl...	ORPHA:398124
Cystic Echinococcosis	Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosph...	ORPHA:400
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cholelithiasis, Iridocyclitis, Chronic active hepatitis, Chronic oral candidiasis, Keratoconjunct...	OMIM:240300
Microsporidiosis	Keratitis, Pancreatitis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneumonia, Rhinit...	ORPHA:2552
Apolipoprotein C-Ii Deficiency	Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration...	OMIM:207750
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Epididymitis, Absent circulating B cells...	OMIM:307200
Combined Oxidative Phosphorylation Deficiency 36	Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Elevated circulatin...	OMIM:617950
Nephronophthisis 11	Anemia, Hepatic fibrosis	OMIM:613550
Acute Erythroid Leukemia	Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia	ORPHA:318
Osteopetrosis, Autosomal Recessive 8	Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly	OMIM:615085
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis	OMIM:263210
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology	ORPHA:1332
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Splenomegaly	ORPHA:79292
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Decreased liver function, Anemia, Elevated circulating creatine kinase concentration	OMIM:618835
Relapsing Fever	Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In...	ORPHA:91547
Adams-Oliver Syndrome	Cirrhosis, Leukopenia, Congenital hepatic fibrosis, Thrombocytopenia, Portal hypertension, Ascites	ORPHA:974
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Decreased liver function, Anemia, Elevated circulating creatine kinase concentration	OMIM:618839
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Tubulointerstitial nephritis, Elevated circulating creatinine conc...	OMIM:614817
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:616050
Spondyloenchondrodysplasia	Skin rash, Juvenile rheumatoid arthritis, Autoimmune thrombocytopenia, Arthritis, Hepatitis, Viti...	ORPHA:1855
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Ascites, Hepatic fibrosis	OMIM:614091
Becker Muscular Dystrophy	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration	ORPHA:98895
Agammaglobulinemia, X-Linked	Bronchiectasis, Recurrent otitis media, Prostatitis, Pyoderma, Enteroviral hepatitis, Hepatocellu...	OMIM:300755
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Decreased plasma carnitine, Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase	OMIM:201450
Wolcott-Rallison Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Hyperbilirubinemia, Lymphocytosis, Hyperammonemi...	ORPHA:1667
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia, Hepatomegaly, Hypercalcemia	ORPHA:2123
Cinca Syndrome	Elevated circulating C-reactive protein concentration, Leukocytosis, Skin rash, Eosinophilia, Hep...	OMIM:607115
Idiopathic Hypereosinophilic Syndrome	Pancreatitis, Neutrophilia, Cervical lymphadenopathy, Eczema, Erythroderma, Portal fibrosis, Coli...	ORPHA:3260
Aceruloplasminemia	Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron, Diabetes ...	OMIM:604290
Lesch-Nyhan Syndrome	Anemia, Gout, Hyperuricemia	ORPHA:510
Vitamin B12-Unresponsive Methylmalonic Acidemia	Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia	ORPHA:27
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Decreased circulating ferritin concentration, Hepatomegaly, Micronodular cirrhosis, Jaundice, Spl...	ORPHA:309854
Rift Valley Fever	Skin rash, Elevated hepatic transaminase, Hepatitis, Uveitis, Infectious encephalitis, Anemia, Th...	ORPHA:319251
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye...	OMIM:619041
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Inflammatory abnormality of th...	ORPHA:391487
Mccune-Albright Syndrome	Hypophosphatemia, Pancreatitis, Large cafe-au-lait macules with irregular margins, Cholestasis, H...	ORPHA:562
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:616263
Galactokinase Deficiency	Hyperinsulinemia, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatosplenomegaly, Increased ...	ORPHA:79237
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Chronic Mucocutaneous Candidiasis	Hepatitis, Skin rash, Cheilitis	ORPHA:1334
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia	OMIM:301083
Genetic Recurrent Myoglobinuria	Hypocalcemia, Elevated aldolase level, Abnormality of glycolipid metabolism, Myositis, Increased ...	ORPHA:99845
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia	ORPHA:163596
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis	ORPHA:2031
Blue Diaper Syndrome	Elevated hepatic transaminase, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Micronodular cirrhosis, Abnormal granulocyte morphology, Abnormal circulating creat...	ORPHA:98907
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypophosphatemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Glycosur...	OMIM:616026
Leptospirosis	Optic neuritis, Hepatomegaly, Skin rash, Hyperproteinemia, Thrombocytopenia, Hepatitis, Uveitis, ...	ORPHA:509
Immunodeficiency 98 With Autoinflammation, X-Linked	Recurrent otitis media, Hepatomegaly, Chronic oral candidiasis, Hemophagocytosis, Splenomegaly, B...	OMIM:301078
Bleeding Disorder, Platelet-Type, 16	Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Mitochondrial Trifunctional Protein Deficiency	Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k...	OMIM:609015
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Abnormality of the p...	ORPHA:69665
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ...	ORPHA:99901
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acetylcarnitine concentration, Decreased 3-hydroxyacyl-CoA dehydrogenase lev...	ORPHA:71212
Congenital Disorder Of Deglycosylation 1	Hepatomegaly, Elevated alpha-fetoprotein, Elevated hepatic transaminase, Hepatic fibrosis, Hypera...	OMIM:615273
Mevalonic Aciduria	Fluctuating hepatomegaly, Morbilliform rash, Elevated circulating C-reactive protein concentratio...	OMIM:610377
Drug-Induced Lupus Erythematosus	Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci...	ORPHA:231111
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope...	OMIM:610629
Propionic Acidemia	Neutropenia, Pancreatitis, Hepatomegaly, Hyperammonemia, Propionyl-CoA carboxylase deficiency, Ec...	OMIM:606054
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost...	OMIM:233710
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Hypoglycemia, Hyperglycinemia, Tubulointe...	OMIM:251000
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Recurrent skin infections...	OMIM:612840
Biliary, Renal, Neurologic, And Skeletal Syndrome	Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating alkaline phospha...	OMIM:619534
Hyperlipoproteinemia, Type I	Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circu...	OMIM:238600
Primary Myelofibrosis	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Incre...	ORPHA:824
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepati...	OMIM:212138
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Hepatomegaly, Lymphopenia, Skin rash, Lymphadenitis, Eosinophilia, Hepatos...	ORPHA:331206
Cranioectodermal Dysplasia 1	Hypocalcemia, Hepatomegaly, Hepatic failure, Malformation of the hepatic ductal plate, Hepatic cy...	OMIM:218330
Myh9-Related Disease	Neutrophil inclusion bodies, Nephritis, Congenital thrombocytopenia, Increased mean platelet volu...	ORPHA:182050
Combined Immunodeficiency-Enteropathy Spectrum	Hypoplasia of the thymus, Peritoneal abscess, Hepatitis, Rectal abscess, Hashimoto thyroiditis, A...	ORPHA:436252
Amoebiasis Due To Entamoeba Histolytica	Acute colitis, Elevated circulating alkaline phosphatase concentration, Leukocytosis, Constrictiv...	ORPHA:67
Zygomycosis	Splenic abscess, Sinusitis, Colitis, Pancreatitis, Gastritis, Nephritis, Enterocolitis, Pustule, ...	ORPHA:73263
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Eleva...	ORPHA:79124
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas...	ORPHA:167
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost...	OMIM:233690
Reynolds Syndrome	Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Spleno...	OMIM:613471
Chylomicron Retention Disease	Acanthocytosis, Elevated hepatic transaminase, Hypocholesterolemia, Increased hepatocellular lipi...	ORPHA:71
Postinfectious Vasculitis	Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated circulating C-reactive pro...	ORPHA:48435
Gaucher Disease	Osteomyelitis, Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly,...	ORPHA:355
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Fair hair, Hepatosplenomegaly, Cholestasis, Congenital hepatic fibrosis, Hepatic fi...	OMIM:266920
Elliptocytosis 1	Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly	OMIM:611804
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Hyperuricemia, Anemia	OMIM:246450
Arima Syndrome	Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:243910
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormality of...	OMIM:610131
Relapsing Polychondritis	Keratitis, Conjunctivitis, Chondritis, Myocarditis, Arthritis, Hepatitis, Uveitis, Recurrent apht...	ORPHA:728
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Hepatic failure, Increased serum pyruvate, Hyperprolinemia, Hyperglutaminemia, Elevated circulati...	OMIM:619355
Hyperlipoproteinemia, Type Id	Colitis, Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholestero...	OMIM:615947
Primary Sjögren Syndrome	Chronic active hepatitis, Lymphadenopathy, Arthritis, Arteritis, Lymphopenia, Chronic hepatitis, ...	ORPHA:289390
Meckel Syndrome 14	Hepatic fibrosis	OMIM:619879
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist...	OMIM:262190
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Left ventricular hypertrophy, Hepatic fibrosis, Biliary ...	OMIM:209900
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatomegaly, Hyperammonemia, Elevated creatine...	ORPHA:159
Kawasaki Disease	Cheilitis, Conjunctivitis, Leukocytosis, Skin rash, Cervical lymphadenopathy, Myocarditis, Cholec...	ORPHA:2331
Cryohydrocytosis	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly	OMIM:185020
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cholelithiasis, Bacterial endocarditis, Splenomegaly, Hepatosplenomegaly, Abnormality of the sple...	ORPHA:2072
Mirizzi Syndrome	Cholelithiasis, Pancreatitis, Hyperbilirubinemia, Jaundice, Elevated circulating alkaline phospha...	ORPHA:521219
Acute Disseminated Encephalomyelitis	Myelitis, Optic neuritis, Viral hepatitis, Herpes simplex encephalitis	ORPHA:83597
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Hyperlipidemia	ORPHA:2089
Fanconi Anemia, Complementation Group V	Elevated alpha-fetoprotein, Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Short Rib-Polydactyly Syndrome	Hepatic fibrosis, Abnormality of the liver, Hepatic cysts	ORPHA:1505
Gamma-Heavy Chain Disease	Hepatomegaly, Skin rash, Splenomegaly, Rheumatoid arthritis, Autoimmune thrombocytopenia, Abnorma...	ORPHA:100026
Joubert Syndrome 1	Hepatic fibrosis	OMIM:213300
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Hepatomegaly, Eczema, Pancytopenia, Bone m...	OMIM:615688
Acute Liver Failure	Hepatocellular necrosis, Skin rash, Hyperammonemia, Elevated hepatic transaminase, Hepatitis, Hep...	ORPHA:90062
Glycogen Storage Disease Ib	Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car...	OMIM:232220
Simple Cryoglobulinemia	Viral hepatitis, Nephritis, Membranoproliferative glomerulonephritis, Arthritis, Chronic lymphati...	ORPHA:91139
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Abnormal enzyme/coenzyme activity, Neonatal hypoglycemia, Hypoglycemia, Elevated he...	ORPHA:348
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