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Gene: Abcb4 MGI:97569

Gene Summary

Name:

ATP-binding cassette, sub-family B member 4

Synonyms:

Pgy2, mdr-2, Pgy-2, Mdr2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating amylase level	Abcb4^em1(IMPC)H	HOM	Early adult	6.64×10^-05
increased circulating alkaline phosphatase level	Abcb4^em1(IMPC)H	HOM	Early adult	4.20×10^-45
increased circulating alanine transaminase level	Abcb4^em1(IMPC)H	HOM	Early adult	0.00
increased leukocyte cell number	Abcb4^em1(IMPC)H	HOM	Early adult	2.62×10^-08
increased monocyte cell number	Abcb4^em1(IMPC)H	HOM	Early adult	7.96×10^-07
increased circulating creatinine level	Abcb4^em1(IMPC)H	HOM	Early adult	1.15×10^-05
increased red blood cell distribution width	Abcb4^em1(IMPC)H	HOM	Early adult	6.03×10^-06
decreased hemoglobin content	Abcb4^em1(IMPC)H	HOM	Early adult	1.95×10^-05
decreased mean corpuscular hemoglobin	Abcb4^em1(IMPC)H	HOM	Early adult	6.64×10^-14
increased spleen weight	Abcb4^em1(IMPC)H	HOM	Early adult	2.75×10^-13
increased circulating aspartate transaminase level	Abcb4^em1(IMPC)H	HOM	Early adult	0.00
increased circulating bilirubin level	Abcb4^em1(IMPC)H	HOM	Early adult	6.86×10^-06
thrombocytosis	Abcb4^em1(IMPC)H	HOM	Early adult	2.38×10^-09
decreased mean corpuscular hemoglobin concentration	Abcb4^em1(IMPC)H	HOM	Early adult	7.25×10^-07
decreased locomotor activity	Abcb4^tm1Bor	HOM	Early adult	9.74×10^-06
increased basophil cell number	Abcb4^em1(IMPC)H	HOM	Early adult	5.53×10^-05
increased lymphocyte cell number	Abcb4^em1(IMPC)H	HOM	Early adult	4.93×10^-06
increased neutrophil cell number	Abcb4^em1(IMPC)H	HOM	Early adult	2.99×10^-13
increased startle reflex	Abcb4^tm1Bor	HOM	Early adult	7.15×10^-15
decreased circulating glucose level	Abcb4^em1(IMPC)H	HOM	Early adult	2.37×10^-05
increased circulating potassium level	Abcb4^em1(IMPC)H	HOM	Early adult	6.14×10^-06
decreased circulating HDL cholesterol level	Abcb4^em1(IMPC)H	HOM	Early adult	2.63×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

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 Abcb4 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 Abcb4 (5 diseases)
Human diseases predicted to be associated with Abcb4 (2021 diseases)

The table below shows human diseases associated to Abcb4 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Increased ser...	OMIM:614972
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Abnormal pineal melatonin secretion, Asc...	ORPHA:69665

The table below shows human diseases predicted to be associated to Abcb4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi...	OMIM:619662
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub...	OMIM:210500
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Diarrhea, Hep...	OMIM:613812
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration...	OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Increased total bilir...	OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho...	OMIM:619849
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Diarrhea, Splenomegaly, Elevated circulating alkaline phosphatase conce...	OMIM:601847
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Cholelithiasis, Diarrhea, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episo...	OMIM:211600
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d...	OMIM:214900
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Caroli Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ...	ORPHA:53035
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Dubin-Johnson Syndrome	Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality	OMIM:237500
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, ...	OMIM:300752
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona...	ORPHA:79234
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:619874
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Cholestasis, Benign Recurrent Intrahepatic, 1	Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles...	OMIM:243300
Cholestasis, Intrahepatic, Of Pregnancy, 1	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Increased seru...	OMIM:147480
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula...	OMIM:605814
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Increased ser...	OMIM:614972
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Hyperbiliverdinemia	Cholestasis, Elevated circulating biliverdin concentration, Cholelithiasis, Decreased liver function	OMIM:614156
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi...	OMIM:266200
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Microcytic anemia, Abnormal circ...	ORPHA:79278
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Crigler-Najjar Syndrome, Type Ii	Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa...	OMIM:606785
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch...	ORPHA:79301
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail...	OMIM:278000
Hemochromatosis, Neonatal	Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Abnormal bleeding, I...	OMIM:231100
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho...	ORPHA:480520
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos...	OMIM:235700
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Ascites, Jaundice, Cirrhosis, Pulmonary arterial hyper...	OMIM:215600
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula...	ORPHA:64743
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ...	OMIM:613490
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Jaundice, Reduced...	OMIM:224100
Glycogen Storage Disease Vii	Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Increased total biliru...	OMIM:232800
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu...	ORPHA:210136
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Reduced bone mineral density	ORPHA:172
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperpl...	OMIM:620454
Cholestasis, Progressive Familial Intrahepatic, 4	Intrahepatic cholestasis, Hepatic failure, Portal hypertension, Cirrhosis, Hepatocellular carcinoma	OMIM:615878
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, H...	ORPHA:75234
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Decreased liv...	ORPHA:79319
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia	OMIM:129850
Crigler-Najjar Syndrome Type 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi...	ORPHA:446
Rotor Syndrome	Hyperbilirubinemia, Abnormal circulating enzyme concentration or activity, Intermittent jaundice,...	ORPHA:3111
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hypertrophic ...	OMIM:619902
Malaria	Anemia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:673
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Crigler-Najjar Syndrome, Type I	Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia	OMIM:218800
Autoimmune Hepatitis	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Gas...	ORPHA:2137
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration	OMIM:602114
Hypercholanemia, Familial, 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Increased serum bile acid concentra...	OMIM:619256
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Eczematoid dermatitis, Hypertriglyceridemia, Hemolytic anemia	OMIM:177000
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis,...	OMIM:209950
Hyperbilirubinemia, Rotor Type	Jaundice, Conjugated hyperbilirubinemia	OMIM:237450
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper...	ORPHA:369
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu...	OMIM:602390
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypophosphatemia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration	OMIM:619073
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Jaundice, Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Beta-Thalassemia	Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal...	ORPHA:848
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Gracile Syndrome	Cholestasis, Increased circulating iron concentration, Increased serum pyruvate, Increased circul...	OMIM:603358
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Increased circula...	OMIM:194380
Immunodeficiency 56	Hepatic failure, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepati...	OMIM:615207
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Reduced ...	OMIM:614887
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hyperl...	OMIM:232400
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly	OMIM:607361
Cadds	Increased circulating very long-chain fatty acid concentration, Cholangitis, Elevated circulating...	ORPHA:369942
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyp...	OMIM:611881
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Hepa...	ORPHA:890
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology	ORPHA:438274
Glycogen Storage Disease Iv	Hepatic failure, Cardiomyopathy, Ascites, Hepatosplenomegaly, Abnormal circulating creatine kinas...	OMIM:232500
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l...	OMIM:617093
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Ascites, Ac...	ORPHA:131
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Vomiting, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circ...	ORPHA:33402
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
Inflammatory Pseudotumor Of The Liver	Vomiting, Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormalit...	ORPHA:90003
North American Indian Childhood Cirrhosis	Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension	OMIM:604901
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Hepatitis Delta	Hepatic failure, Abnormal bleeding, Hepatitis, Bruising susceptibility, Elevated circulating aspa...	ORPHA:402823
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Elevated ci...	OMIM:604416
Galactose Mutarotase Deficiency	Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or activity, Hep...	ORPHA:570422
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Gilbert Syndrome	Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration, Unconjugated ...	OMIM:143500
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia	OMIM:618881
Budd-Chiari Syndrome	Budd-Chiari syndrome, Cirrhosis, Hepatocellular carcinoma	OMIM:600880
Enteric Anendocrinosis	Cholestatic liver disease, Vomiting, Diarrhea, Portal hypertension	ORPHA:83620
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Epistaxis, Elevated circulating hepatic transaminase c...	OMIM:619463
Hemochromatosis, Type 4	Cardiomyopathy, Increased circulating ferritin concentration, Hepatic steatosis, Arrhythmia, Cirr...	OMIM:606069
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom...	OMIM:613470
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Cholelithiasis, Hypovolemic shock, Vomiting, Recurrent tonsillitis, Osteomyeli...	ORPHA:171876
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Increased total bilirubin, Hepatomegaly, Po...	ORPHA:2924
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltra...	ORPHA:186
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Vomiting, Hyperbilirubin...	ORPHA:521219
Dubin-Johnson Syndrome	Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hyperbili...	ORPHA:234
Gaucher Disease Type 1	Hepatosplenomegaly, Hypersplenism, Pancytopenia, Cirrhosis, Hepatomegaly, Multiple myeloma, Eleva...	ORPHA:77259
Reynolds Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir...	OMIM:613471
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Hodgkin lymphoma, Hematol...	ORPHA:158057
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C...	ORPHA:60
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Hemochromatosis, Type 3	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:604250
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Bilateral cryptorchidism, Elevated circulating aspartate aminotransfera...	OMIM:619685
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Hepatic failure, Cirrhosis, Portal hypertension	OMIM:210050
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Psoriasis 14, Pustular	Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutrophilia, Elevated circulatin...	OMIM:614204
Galactosemia I	Increased level of galactitol in red blood cells, Diarrhea, Vomiting, Decreased liver function, E...	OMIM:230400
Meckel Syndrome, Type 7	Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, R...	OMIM:267010
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated...	ORPHA:53693
Harderoporphyria	Neonatal hyperbilirubinemia, Vomiting, Increased circulating ferritin concentration, Splenomegaly...	OMIM:618892
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Coach Syndrome 2	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Eleva...	OMIM:619111
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis	OMIM:613783
Retinitis Pigmentosa 89	Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis	OMIM:618955
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilate...	ORPHA:367
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated circulating hepatic trans...	ORPHA:100093
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Aborted sudden cardiac death, Elevated circulating hepatic transaminase...	OMIM:614921
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Biliary cirrho...	OMIM:208540
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges...	ORPHA:231222
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration	ORPHA:209981
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Hjv Or Hamp-Related Hemochromatosis	Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration, Increas...	ORPHA:79230
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Eleva...	OMIM:607330
Primary Hepatic Neuroendocrine Carcinoma	Elevated gamma-glutamyltransferase level, Diarrhea, Neoplasm of the nervous system, Neoplasm of t...	ORPHA:100085
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc...	OMIM:300635
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Folate-resp...	OMIM:601775
Transaldolase Deficiency	Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce...	ORPHA:101028
Immunodeficiency 92	Pneumonia, Osteomyelitis, Esophagitis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decre...	OMIM:619652
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Elevated circulating alanine...	OMIM:613759
Mhc Class Ii Deficiency 1	Chronic mucocutaneous candidiasis, Infectious encephalitis, Biliary tract abnormality, Colitis, C...	OMIM:209920
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Polycystic liver disease, Elevated circulating alkaline phosphatase concentration, Incre...	OMIM:174050
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ...	ORPHA:209919
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Ppoma	Diarrhea, Increased circulating prolactin concentration, Intestinal obstruction, Elevated circula...	ORPHA:97278
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis, Elevated circulating alkaline phosphatase c...	OMIM:615198
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Increased c...	ORPHA:139507
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:618329
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami...	ORPHA:84081
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia	OMIM:618618
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology	ORPHA:3032
Nodular Regenerative Hyperplasia Of The Liver	Abnormality of the hepatic vasculature, Portal hypertension	ORPHA:48372
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	OMIM:109720
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Ascites, Elevated circulating aspartate aminotransferase concentration, Hyperamm...	OMIM:617049
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczematoid dermatitis	OMIM:176090
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Increased circulating ferritin concentration, Congestive heart failure, Portal hy...	ORPHA:465508
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Elevated circulat...	OMIM:600081
Grfoma	Diarrhea, Increased circulating prolactin concentration, Intestinal obstruction, Elevated circula...	ORPHA:97261
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Autosomal Recessive Polycystic Kidney Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni...	ORPHA:731
Porphyria Cutanea Tarda	Cirrhosis, Reduced uroporphyrinogen decarboxylase activity, Hepatocellular carcinoma	OMIM:176100
Immunodeficiency By Defective Expression Of Mhc Class Ii	Diarrhea, Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Protracted diarrhea, Pancyto...	ORPHA:572
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Paget Disease Of Bone 4	Osteolysis, Elevated circulating alkaline phosphatase concentration	OMIM:606263
Hereditary Elliptocytosis	Cholelithiasis, Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Elliptocytosis, ...	ORPHA:288
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych...	OMIM:619481
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Hepatic fibrosis, Gastrointestinal hemorrha...	OMIM:617341
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Diarrhea, Vomiting, Cirrhosis, Lymphangiectas...	OMIM:602579
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, ...	OMIM:619858
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ...	OMIM:613280
Galactosemia Iii	Vomiting, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Jaundice, Hypergalac...	OMIM:230350
Somatostatinoma	Diarrhea, Increased circulating prolactin concentration, Intestinal obstruction, Elevated circula...	ORPHA:97283
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Cirrhosis, Elevated ju...	ORPHA:57777
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Cervical lymphadenopathy, Hepatomegaly, Coombs-posi...	OMIM:614034
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia...	ORPHA:309108
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated ...	OMIM:613489
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Osteomalacia, Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concen...	OMIM:193100
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries, Hypertriglyceridemia, Hypertension	ORPHA:280356
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation	OMIM:610688
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia	OMIM:616871
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Hepatitis, Absence of lymph node germinal center, Hemolytic anemia, Splenomegaly, Scler...	OMIM:308230
Alveolar Echinococcosis	Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morphology, Bu...	ORPHA:284
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Vomiting, Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced...	OMIM:620646
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Pancyto...	ORPHA:228426
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Van Buchem Disease	Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density, Elevated ci...	OMIM:239100
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cirrhosi...	OMIM:301068
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph...	OMIM:216360
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Hyp...	ORPHA:89937
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron...	ORPHA:98870
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Hyperbilirub...	ORPHA:247598
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopen...	OMIM:619644
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Elevated circulating...	ORPHA:263501
Telangiectasia, Hereditary Hemorrhagic, Type 5	Telangiectasia, Elevated circulating hepatic transaminase concentration, Portal hypertension, Spo...	OMIM:615506
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu...	ORPHA:2790
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, ...	OMIM:618775
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Diarr...	ORPHA:264580
Fanconi-Bickel Syndrome	Hypouricemia, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circul...	OMIM:227810
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Diarrhea, Cirrhosis, Chronic hepatitis, Hepatomegaly, C...	OMIM:614602
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog...	OMIM:232700
Aggressive Systemic Mastocytosis	Diarrhea, Hepatosplenomegaly, Hypersplenism, Pancytopenia, Elevated circulating alkaline phosphat...	ORPHA:98850
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp...	ORPHA:824
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hype...	OMIM:201475
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone mineral density, Hypocalcemi...	ORPHA:36913
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Mantle Cell Lymphoma	B-cell lymphoma, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:52416
Familial Expansile Osteolysis	Pathologic fracture, Thin bony cortex, Osteolysis, Elevated circulating alkaline phosphatase conc...	OMIM:174810
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl...	ORPHA:846
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Vomiting, Acute hepatic...	OMIM:613070
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso...	ORPHA:71275
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Hemolytic anemia, Leuko...	OMIM:603903
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopeni...	OMIM:226990
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly	ORPHA:2204
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Splenomeg...	ORPHA:294
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Hyperbi...	OMIM:614886
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Combined Oxidative Phosphorylation Deficiency 1	Cholestasis, Hepatomegaly, Fulminant hepatic failure	OMIM:609060
Meckel Syndrome, Type 6	Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease	OMIM:612284
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Lambert Syndrome	Cholestasis, Jaundice, Intrahepatic biliary atresia	ORPHA:1296
Pseudohypoparathyroidism Type 1B	Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hypocalcemia,...	ORPHA:94089
Rft1-Cdg	Hepatomegaly, Abnormal bleeding	ORPHA:244310
Sialuria	Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Cholel...	ORPHA:3166
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Fulminant hepatic failure,...	OMIM:231530
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den...	OMIM:241520
Amyloidosis, Hereditary Systemic 2	Cholestasis, Skin rash, Splenomegaly, Hepatomegaly, Hypertension	OMIM:105200
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Pulmonary embolism, Increased mean corpuscular volume, Hyperbilirubinemia, Spleno...	OMIM:185000
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:242150
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone	ORPHA:564003
Myotonic Dystrophy 1	Cholelithiasis, Atrial flutter, First degree atrioventricular block, Testicular atrophy, Atrial f...	OMIM:160900
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased spinal bo...	ORPHA:329475
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Vipoma	Follicular thyroid carcinoma, Increased circulating prolactin concentration, Elevated circulating...	ORPHA:97282
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Splenomegaly, Hepatitis	ORPHA:444463
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce...	OMIM:243700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	OMIM:615895
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi...	ORPHA:91547
Cholangiocarcinoma	Biliary tract neoplasm, Jaundice, Acholic stools	ORPHA:70567
Dysplasia Of Head Of Femur, Meyer Type	Enlarged tonsils, Leukocytosis	ORPHA:168621
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Vomiting, Intraalveo...	OMIM:615486
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly	ORPHA:1802
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Nephritis, Pulmonary insufficiency, Bile duct proliferation, Pancreatic fibrosi...	OMIM:208500
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated...	ORPHA:400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva...	ORPHA:71212
Refractory Celiac Disease	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Abnorma...	ORPHA:398063
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Rheumatoid arth...	ORPHA:227990
Sclerosteosis	Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density	ORPHA:3152
Combined Oxidative Phosphorylation Deficiency 34	Hypoglycemia, Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, Inc...	OMIM:617872
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Myositis, Elevated circulating creatine kinase concentration, Biliary atresia	ORPHA:565899
Hemophagocytic Lymphohistiocytosis, Familial, 4	Conjunctivitis, Hemophagocytosis, Increased circulating ferritin concentration, Skin rash, Spleno...	OMIM:603552
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemia, Hyperostosis, Elevated circulating alkaline phosphatase concentration, Subperi...	OMIM:211900
Chylomicron Retention Disease	Hypoalbuminemia, Diarrhea, Vomiting, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL chol...	OMIM:246700
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Elevated circulat...	OMIM:264700
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati...	OMIM:614576
Immunodeficiency 104	Pneumonia, Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Eczematoid derma...	OMIM:608971
Cystic Fibrosis	Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch...	OMIM:219700
Meckel Syndrome, Type 4	Bile duct proliferation	OMIM:611134
Calciphylaxis	Ectopic ossification, Hyperphosphatemia	ORPHA:280062
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Recurrent fractures, Elevated circulating alkaline phosphatase con...	OMIM:239000
Osteopetrosis, Autosomal Recessive 1	Increased circulating lactate dehydrogenase concentration, Pathologic fracture, Osteomyelitis, Sp...	OMIM:259700
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Constipation, Conj...	ORPHA:95715
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis	OMIM:614379
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia	OMIM:617056
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Glucagonoma	Diarrhea, Increased circulating prolactin concentration, Acanthocytosis, Intestinal obstruction, ...	ORPHA:97280
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Portal Vein, Cavernous Transformation Of	Extrahepatic portal hypertension	OMIM:601004
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficiency anemia, Thro...	OMIM:226300
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d...	ORPHA:183675
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Acut...	ORPHA:905
Mitchell-Riley Syndrome	Diarrhea, Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperbilirubinemia, Abse...	OMIM:615710
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Rheumatoid arth...	ORPHA:227982
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice	OMIM:614876
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Leukemia	OMIM:614743
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Ab...	ORPHA:79240
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypermethioninemia, Hypoalbuminemia, Cardiomyopathy, Elevated circulating aspartate aminotransfer...	OMIM:613752
Interstitial Lung Disease 2	Pulmonary arterial hypertension, Cirrhosis, Alveolar cell carcinoma	OMIM:178500
D-Bifunctional Protein Deficiency	Fetal ascites, Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic stea...	OMIM:261515
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Elevated alkaline phosphatase of bone origin, Abnormal circulating beta-C-terminal te...	OMIM:615923
Peroxisome Biogenesis Disorder 10A (Zellweger)	Hepatomegaly	OMIM:614882
Porphyria Cutanea Tarda	Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ...	ORPHA:101330
Infantile Sialic Acid Storage Disease	Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocyt...	OMIM:269920
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Ascit...	OMIM:619487
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Nephritis, Pneumonia, Hypotriglyceridemia, Biliary cirrhosis, Abnormal circulati...	ORPHA:2298
Galactosemia Ii	Prolonged neonatal jaundice, Hypergalactosemia	OMIM:230200
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Rickets, Osteomalacia, Splenomegaly, Elevated circulating alkali...	ORPHA:289157
Pseudohypoparathyroidism, Type Ic	Osteoporosis, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Abnormal pineal melatonin secretion, Asc...	ORPHA:69665
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hemolytic anemia	OMIM:609153
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, Hypertension	ORPHA:363400
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Bi...	OMIM:613610
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Ele...	OMIM:600785
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79124
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Immunodeficiency 15B	Reduced natural killer cell count, Monocytosis	OMIM:615592
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones	ORPHA:53697
Systemic Primary Carnitine Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:158
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Gastroesophageal reflux, Aplastic anemia, Pancytopenia, Cirrhosis, M...	OMIM:614742
Hepatitis, Fulminant Viral, Susceptibility To	Gingival bleeding, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hash...	OMIM:618549
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Elevated circulating ...	OMIM:122860
Argininemia	Portal fibrosis, Vomiting, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Hyperargininemia,...	OMIM:207800
Citrullinemia, Classic	Vomiting, Reduced tissue argininosuccinate synthetase activity, Hyperammonemia, Hyperglutaminemia...	OMIM:215700
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy	OMIM:609016
Hypocalcemic Vitamin D-Resistant Rickets	Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hypocalcemia, Hypophosph...	ORPHA:93160
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Familial Atrial Myxoma	Bacterial endocarditis, Congestive heart failure, Cholestasis, Ascites, Tricuspid regurgitation, ...	ORPHA:615
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage	ORPHA:1980
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Cortic...	ORPHA:93324
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Anemia, Hypochromic micro...	ORPHA:440713
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarr...	ORPHA:247585
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Constipation, Bradycardia	ORPHA:95717
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hemateme...	OMIM:263200
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Hypocalcemic tetany, Subcutaneous ossification, Hyperphosphatemia	OMIM:103580
Joubert Syndrome With Hepatic Defect	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge...	ORPHA:1454
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti...	OMIM:619802
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hepatic steatosis, Hyperuricemia, Polycystic ovaries, Ci...	OMIM:604367
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	ORPHA:713
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Erythema nodosum, Elevated...	OMIM:615688
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat...	OMIM:208085
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Hyperc...	OMIM:617994
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Ascites, Exocrine pancreatic insuf...	ORPHA:1667
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Igg4-Related Thyroid Disease	Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Sclerosing cholangitis, Hashimoto thyroidit...	ORPHA:64744
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Nephronophthisis 18	Cholestasis, Portal fibrosis, Hypertension, Tubulointerstitial nephritis	OMIM:615862
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Cholestasis, Decreased response to growth hormone stimulation test, Hyperbilirubinemia, Decreased...	OMIM:609734
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:616299
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia	OMIM:608898
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphoma, Splenomegaly, B-cell lymphoma, Weight loss, Lymphadenopathy, Hepatomegaly, Breast carci...	ORPHA:86893
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur...	ORPHA:157215
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Mednik Syndrome	Hepatic fibrosis, Diarrhea, Cholestasis, Cirrhosis, Increased circulating very long-chain fatty a...	OMIM:609313
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis	ORPHA:970
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Erythroderma, Neutrophi...	ORPHA:3260
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymp...	ORPHA:66661
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Intraalveolar phospholipid accumulation, Hepatitis, Leukocytosis, Autoimmune hemoly...	OMIM:620565
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Increased circul...	OMIM:600649
Intermediate Osteopetrosis	Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Recurrent fractures, Increased susceptibil...	ORPHA:210110
Osteogenesis Imperfecta, Type Xxii	Abnormal blood phosphate concentration, Thin bony cortex, Multiple prenatal fractures, Abnormal c...	OMIM:619795
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H...	OMIM:179800
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	OMIM:613658
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Weight loss, Splenomegaly	ORPHA:79238
Senior-Loken Syndrome	Abnormality of bone mineral density, Congenital hepatic fibrosis	ORPHA:3156
Glycogen Storage Disease Ixb	Diarrhea, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Reduced ...	OMIM:261750
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Polycysti...	ORPHA:79083
Polycythemia Vera	Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch...	ORPHA:729
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransferase concentr...	OMIM:615558
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Cholestasis, Hypertrophic cardiomyopathy, Enlarged ki...	OMIM:615382
Mitochondrial Neurogastrointestinal Encephalomyopathy	Diarrhea, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Vomit...	ORPHA:298
Cerebrotendinous Xanthomatosis	Cholelithiasis, Diarrhea, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis,...	OMIM:213700
Beta-Ketothiolase Deficiency	Hypoglycemia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis, Hepatom...	ORPHA:134
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Congestive heart failure, Cholecystitis, Splenomegaly, Macrocy...	OMIM:615512
Osteopetrosis, Autosomal Recessive 9	Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Elevated ...	OMIM:620366
Macrophage Activation Syndrome	Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ...	ORPHA:158061
Obesity Due To Prohormone Convertase I Deficiency	Cholestasis, Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Gon...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Cholestasis, Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Gon...	ORPHA:71526
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Cholestasis, Microvesicular hepatic steato...	OMIM:619377
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Cutaneous leiomyoma, Ascites, Hyperbilirubinemia, Decr...	OMIM:606812
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Ascites, Skin rash, Infectious encephalitis, Cirrhosis, Kera...	ORPHA:779
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Graft Versus Host Disease	Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Hyperbiliru...	ORPHA:39812
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	OMIM:606003
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Elevated circulating C-reactive protein concentr...	OMIM:615934
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:603553
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Hepatomegaly	OMIM:615630
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Wolman Disease	Reduced lysosomal acid lipase activity, Vomiting, Acute hepatic failure, Splenomegaly, Hepatomegaly	OMIM:620151
Dominant Beta-Thalassemia	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231226
Congenital Generalized Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Polycystic ovaries, Cir...	ORPHA:528
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati...	ORPHA:77293
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Incr...	OMIM:127000
Hypophosphatasia, Childhood	Low alkaline phosphatase, Craniosynostosis, Elevated plasma pyrophosphate	OMIM:241510
Congenital Disorder Of Glycosylation, Type Iid	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:607091
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Oncogenic Osteomalacia	Pathologic fracture, Increased susceptibility to fractures, Fibrous dysplasia of the bones, Eleva...	ORPHA:352540
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Eleva...	OMIM:241530
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level...	OMIM:301110
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H...	OMIM:615415
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Gastroesophageal reflux, Hepatitis, Hypersplenism, Pancytopenia, Portal hypertension, Splenomegal...	OMIM:613385
Myopathy, Tubular Aggregate, 2	Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Abnormality of the liver, Decreased circulating carnitine concentration, Mildly ele...	ORPHA:254864
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise	ORPHA:57
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis	OMIM:619273
Porphyria, Congenital Erythropoietic	Cholelithiasis, Conjunctivitis, Elevated circulating uroporphyrin concentration, Reduced erythroc...	OMIM:263700
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia	OMIM:245550
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Propionic Acidemia	Cardiomyopathy, Propionyl-CoA carboxylase deficiency, Hyperammonemia, Arrhythmia, Constipation, H...	ORPHA:35
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	OMIM:124000
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abn...	OMIM:619991
Acquired Generalized Lipodystrophy	Lymphoma, Abnormal circulating lipid concentration, Cardiomyopathy, Abnormal cardiovascular syste...	ORPHA:79086
Tyrosinemia, Type I	Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hepatic failure, Elevat...	OMIM:276700
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Albers-Schönberg Osteopetrosis	Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Generalized osteosclerosis, Arthritis, Ost...	ORPHA:53
Acth Deficiency, Isolated	Cholestasis, Jaundice, Adrenocorticotropic hormone deficiency	OMIM:201400
Multiple Symmetric Lipomatosis	Hepatomegaly, Multiple lipomas	ORPHA:2398
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Diarrhea, Chronic mucocutaneous candidiasis, Keratoconjunctiv...	OMIM:240300
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:26791
Cystinosis	Hypokalemia, Vomiting, Hypophosphatemia, Portal hypertension	ORPHA:213
Senior-Loken Syndrome 9	Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis	OMIM:616629
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:333
Beta-Thalassemia Major	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231214
Idiopathic Achalasia	Weight loss, Decreased circulating prealbumin concentration	ORPHA:930
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Mitochondrial Myopathy, Infantile, Transient	Hepatomegaly, Decreased circulating carnitine concentration, Increased serum pyruvate, Elevated c...	OMIM:500009
Laryngeal Neuroendocrine Tumor	Neuroendocrine neoplasm, Neoplasm of the larynx, Chronic noninfectious lymphadenopathy, Elevated ...	ORPHA:100083
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma, Weight loss, Abnormal peritoneum morphology	ORPHA:2023
Leigh Syndrome, Nuclear	Hepatocellular necrosis	OMIM:256000
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Hypophosphatemic Bone Disease	Hypophosphatemia, Rickets, Osteomalacia	OMIM:146350
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Decreased circulating cortisol level, Hyponatremia, Hepatitis	ORPHA:199296
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperoxaluria	OMIM:601539
Dpm1-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarrhea, Hepatospleno...	ORPHA:79322
Alpha-Heavy Chain Disease	Lymphoma, Ascites, Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Coproporphyria, Hereditary	Diarrhea, Vomiting, Splenomegaly, Constipation, Hepatomegaly, Jaundice, Tachycardia, Hypertension	OMIM:121300
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Squamous cell carcinoma of the skin, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocyt...	OMIM:620365
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Pathologic fracture, Abnormal circulat...	ORPHA:668
3-Hydroxy-3-Methylglutaric Aciduria	Recurrent hypoglycemia, Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Lipid accumulati...	ORPHA:20
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Fetal ascites, Hypotension, Hepatitis, Abnormal bleeding, Cardi...	ORPHA:292
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes...	OMIM:306000
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Diarrhea, Hepatosplenomegaly, Elevated c...	ORPHA:79333
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi...	ORPHA:79106
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Paget disease of bone, Elevated circulating alkaline phosphatase concentration, Elevated circulat...	OMIM:615422
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:609015
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Hepatomegaly	OMIM:238970
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Chylomicron Retention Disease	Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Hypocholesterolemia,...	ORPHA:71
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology	ORPHA:166277
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia, Jaundice, Stomatocytosis, Hemolytic anemia	OMIM:268150
Camurati-Engelmann Disease, Type 2	Osteopenia, Hyperostosis, Hip contracture, Elevated circulating alkaline phosphatase concentratio...	OMIM:606631
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Elbow flexion contracture, Hip contracture, Knee flexion contracture, Elevated circul...	OMIM:616809
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:619525
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis, Elevated circulating alkaline pho...	OMIM:167250
Primary Sjögren Syndrome	Vasculitis, Biliary cirrhosis, Arteritis, Lymphoma, Parotitis, Chronic hepatitis, Lymphocytic int...	ORPHA:289390
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Cholestasis, Hyperbilirubinemia, Congenital hepatic fib...	OMIM:619534
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level	OMIM:612126
Genetic Recurrent Myoglobinuria	Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Increased circulating...	ORPHA:99845
Fanconi-Bickel Syndrome	Osteopenia, Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentrati...	ORPHA:2088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Argininosuccinic Aciduria	Hepatic fibrosis, Vomiting, Elevated circulating aspartate aminotransferase concentration, Hypera...	OMIM:207900
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Abnormality of the liver, Splenomegaly, Petechiae, Kerat...	ORPHA:91138
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Hepatocellular...	OMIM:256810
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Ascites, Leukopenia, Portal hypertension, Congenital hepatic fibrosi...	ORPHA:974
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Elevated cir...	OMIM:620376
Diffuse Alveolar Hemorrhage	Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia	ORPHA:90060
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal mesentery morphology, Pr...	ORPHA:449395
Cerebral Cavernous Malformations	Cerebral cavernous malformation, Intracranial hemorrhage, Hepatic vascular malformations	OMIM:116860
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso...	OMIM:618278
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Hepatic failure	ORPHA:46059
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Thin bony cortex	OMIM:265900
Metachromatic Leukodystrophy	Gallbladder dysfunction, Reduced leukocyte arylsulfatase A activity, Cholecystitis	OMIM:250100
Igg4-Related Ophthalmic Disease	Neoplasm of the lung, Keratitis, Lymphoma, Colon cancer, Sialadenitis, Orchitis, Prostatitis, Abn...	ORPHA:449563
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Decreased liver function, Cholestasis, Elevated circulating creatinine concentra...	OMIM:608104
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Griscelli Syndrome	Hepatitis, Abnormal circulating lipid concentration, Ascites, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:381
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly	ORPHA:75563
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Blue Diaper Syndrome	Hypercalcemia, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia	ORPHA:94086
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro...	OMIM:222470
Gorham-Stout Disease	Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Osteolysis involving bones...	ORPHA:73
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
3-Methylglutaconic Aciduria Type 1	Hepatomegaly	ORPHA:67046
Familial Thyroid Dyshormonogenesis	Neonatal hyperbilirubinemia, Goiter, Abnormal circulating thyroglobulin concentration, Constipati...	ORPHA:95716
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures	OMIM:612287
Hypophosphatasia, Adult	Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Low alkaline p...	OMIM:146300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Vomiting, Polysplenia, Exocrine pancreatic insuffici...	OMIM:619418
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,...	OMIM:231680
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly	ORPHA:2432
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elev...	OMIM:618805
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p...	OMIM:277440
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:614727
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ...	ORPHA:98907
Klatskin Tumor	Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Joubert Syndrome 9	Hepatic fibrosis	OMIM:612285
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Elevated circulating aspartate aminotransferase concentration, Decrease...	OMIM:619048
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Elevated circulating hepatic transaminase concentration, Rickets, Elevated circulat...	OMIM:616026
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concentration, Decreased ...	OMIM:616834
Metatropic Dysplasia	Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodactyly of finger, ...	ORPHA:2635
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Positive ferric chloride test, Megaloblastic anemia, Hypersegmentation of neutroph...	OMIM:229100
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Cortical thickening of long b...	ORPHA:1310
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Steatorrhea	OMIM:266510
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficie...	OMIM:618268
Atransferrinemia	Hypochromic anemia, Abnormality of the liver, Atransferrinemia, Congestive heart failure	OMIM:209300
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Splenomegaly, Eosinophilia, Hepatomegaly, Myeloproliferative disorder	OMIM:607685
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy	OMIM:613987
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:618858
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of...	OMIM:616622
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia...	OMIM:620481
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Lysinuric Protein Intolerance	Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hypergly...	ORPHA:470
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Decreased circula...	OMIM:618838
Ck Syndrome	Abnormal cortical bone morphology, Joint hypermobility	OMIM:300831
Proteus Syndrome	Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex, Calvarial hyperostosis	OMIM:176920
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos...	OMIM:301310
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Abnormal...	ORPHA:54251
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin...	ORPHA:94093
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Abetalipoproteinemia	Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypotriglyceridem...	ORPHA:14
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hepatomegaly, H...	OMIM:615234
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Reduced bone mineral density, Hypocalcemia, Hypomagnesemia	ORPHA:428
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr...	OMIM:620632
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Bone cyst	ORPHA:2668
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures	OMIM:612286
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Elevated gamma-glutamyltransferase level, Stomatocytosis, Hemolytic anemia, Splenomegaly, Hepatom...	OMIM:608885
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri...	OMIM:612526
Cranio-Osteoarthropathy	Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis	ORPHA:1525
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Elevate...	ORPHA:542323
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Familial Isolated Hyperparathyroidism	Generalized osteoporosis, Osteopenia, Hypophosphatemia, Hypercalcemia	ORPHA:99879
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia, Elevated circulating alkaline phosphatase concentration, Hypokalemia, Hypo...	OMIM:134600
Sandhoff Disease	Hepatomegaly, Splenomegaly, Congestive heart failure	ORPHA:796
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Autosomal Agammaglobulinemia	Verrucae, Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivit...	ORPHA:33110
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ...	ORPHA:449432
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Hypocalcemia, Calvarial osteosclerosis, Decreased skull ossification	OMIM:244460
Adult-Onset Still Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co...	ORPHA:829
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ...	OMIM:616329
Avian Influenza	Hypoalbuminemia, Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, In...	ORPHA:454836
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra...	OMIM:300554
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Rhabdoid Tumor	Hypertension, Neoplasm of the liver, Anemia, Weight loss, Internal hemorrhage, Lymphadenopathy, T...	ORPHA:69077
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Elevated circulating C-reactive protein concentra...	OMIM:607115
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Vomiting, H...	OMIM:229600
Laurence-Moon Syndrome	Cryptorchidism, Congenital hepatic fibrosis	ORPHA:2377
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Osteomyelitis, Neoplasm, Hypocalcemia, Skin rash, Recurrent cutan...	ORPHA:47
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Recurrent otitis media, Hepatic steatosis, Melanoma, Cirrhos...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Hepatic steatosis, Melanoma, Cirrhos...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Hepatic steatosis, Melanoma, Cirrhos...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Recurrent otitis media, Hepatic steatosis, Melanoma, Cirrhos...	ORPHA:881
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Anemia, Weight loss, Lymphadenopathy, Hepatomegaly	ORPHA:100024
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni...	ORPHA:507
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Erysipelas, Elevated circulating creatine kinase concentration	OMIM:615704
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Diarrhea, Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotransf...	OMIM:608836
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Osteomalacia, Hepatosplenomegaly, Hypophosphatemic rickets, Elevated circulating alkalin...	OMIM:307800
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr...	ORPHA:369840
Lysosomal Acid Lipase Deficiency	Diarrhea, Hepatosplenomegaly, Hypersplenism, Elevated circulating alkaline phosphatase concentrat...	ORPHA:275761
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Increased circulating ferritin co...	ORPHA:355
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Mirage Syndrome	Hypoglycemia, Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypo...	OMIM:617053
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati...	ORPHA:2394
Preeclampsia	Elevated circulating creatinine concentration, Abnormality of the hepatic vasculature, Thrombocyt...	ORPHA:275555
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ...	OMIM:610582
Grant Syndrome	Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Neuroendocrine neoplasm, Ascite...	ORPHA:100086
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sclerosis of skull base, Increased susceptibility to fractures, Oste...	OMIM:602080
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Acute Liver Failure	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hypotension...	ORPHA:90062
Aa Amyloidosis	Cholestasis, Hepatomegaly, Hypotension, Enlarged kidney	ORPHA:85445
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Visceral angiomatosis, Retinal telangiect...	ORPHA:774
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Hypocalcemia, Macrocytic anemia, Iron deficiency anemia, Thrombocytosis...	OMIM:212750
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly	OMIM:618394
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:606176
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoc...	OMIM:269200
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypertrophic c...	OMIM:246900
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Decreased liver function	OMIM:614870
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Diarrhea, Vomiting, Cardiomyopathy, Congestive hea...	OMIM:212140
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Hepatomegaly, Cho...	OMIM:266920
Neurofibroma	Intestinal bleeding, Neurofibroma, Peripheral schwannoma, Symmetric spinal nerve root neurofibrom...	ORPHA:252183
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen...	OMIM:615160
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Diarrhea, V...	ORPHA:348
Combined Oxidative Phosphorylation Deficiency 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ...	OMIM:614924
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis media, Erythroderma, Chroni...	ORPHA:169160
Mcleod Syndrome	Elevated gamma-glutamyltransferase level, Dilated cardiomyopathy, Increased circulating lactate d...	OMIM:300842
Calvarial Doughnut Lesions With Bone Fragility	Osteoporosis, Osteopenia, Recurrent fractures, Elevated circulating alkaline phosphatase concentr...	OMIM:126550
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomega...	OMIM:259720
Pseudohypoparathyroidism Type 1C	Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Increased...	ORPHA:79444
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Legionnaires Disease	Hypotension, Hepatitis, Splenomegaly, Infectious encephalitis, Hyponatremia, Arrhythmia, Pancreat...	ORPHA:549
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype...	ORPHA:529799
Syndromic Diarrhea	Aortic regurgitation, Hepatic fibrosis, Abnormality of iron homeostasis, Intractable diarrhea, Ly...	ORPHA:84064
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transf...	OMIM:269840
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic tetany, Decreased skull ossification, Calvarial osteosclerosis, C...	ORPHA:93325
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Decreased testicular size, Cholelithiasis, Cryptorchidism	OMIM:300534
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia, Small for gestational age	ORPHA:3363
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Pathologic fracture, Hepatic steatosis, Elevated circulating alkaline phosphatase concentration, ...	ORPHA:52430
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia, Hyperammonemia	ORPHA:28
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Hepatomegaly, Anisocytosis	OMIM:604273
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Reduced bone mineral density	ORPHA:2611
Desmoplastic Small Round Cell Tumor	Ascites, Anemia, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum...	ORPHA:83469
Lichen Planopilaris	Hepatitis, Neoplasm of the oral cavity	ORPHA:525
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal carcinoma, Gastrointestinal hemorrhage, Pancreatic adeno...	ORPHA:2869
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Pulmonary Blastoma	Weight loss, Pleuropulmonary blastoma	ORPHA:64741
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Joint hypermobility, Subperio...	OMIM:114000
Follicular Lymphoma	Lymphoma, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal...	ORPHA:545
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hemolytic an...	OMIM:611590
Dyskeratosis Congenita, Autosomal Dominant 1	Budd-Chiari syndrome, Squamous cell carcinoma of the skin, Hepatic necrosis, Interstitial pneumon...	OMIM:127550
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hyper...	OMIM:619386
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypercalcemia, Craniosynostosis	OMIM:614732
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Systemic-Onset Juvenile Idiopathic Arthritis	Skin rash, Splenomegaly, Elevated circulating C-reactive protein concentration, Arthritis, Lympha...	ORPHA:85414
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Cardiomegaly, Hyperprolinemia, Pulmonary...	OMIM:619064
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Pearson Marrow-Pancreas Syndrome	Type I diabetes mellitus, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, ...	OMIM:557000
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Hepatic artery hyperplasia, Ascites, Tricuspid regurgitation, Portal ...	OMIM:619433
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Fish-Eye Disease	Splenomegaly, Angina pectoris, Lymphadenopathy, Decreased HDL cholesterol concentration, Hepatome...	ORPHA:79292
Corticosteroid-Binding Globulin Deficiency	Anemia, Decreased circulating cortisol level, Reduced circulating cortisol-binding globulin conce...	OMIM:611489
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hyperammonemia, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	ORPHA:79477
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Osteomalacia, Rick...	ORPHA:289176
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa...	OMIM:620005
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Recurrent otitis media, Hepatosplenomegaly, Cholecystitis, Chronic constipation, ...	OMIM:301066
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Pathologic fracture, Hip contracture, Elevated circulating alkaline phosphatase conce...	OMIM:156400
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Intestinal bleeding, Vomiting, Right ventricular failure, Lymphoma, Reduced circ...	ORPHA:90363
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Hypoplasia of the th...	OMIM:243150
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Elevated circulating aspartate...	OMIM:255120
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia, Decreased skull ossification	OMIM:602361
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megal...	OMIM:620603
Alagille Syndrome 2	Cholestatic liver disease, Hypertension, Cholestasis, Pulmonic stenosis	OMIM:610205
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Hypertrophic cardiomyopathy, Elevated circulating aspar...	OMIM:614582
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th...	OMIM:612541
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero...	OMIM:610600
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly	OMIM:618224
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Cholestatic liver disease	ORPHA:5
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Q Fever	Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteom...	ORPHA:781
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Constipation, Bradycardia, Prolonged neonatal jaundice, Thyroid hypo...	ORPHA:90673
Melioidosis	Pneumonia, Hepatitis, Foot osteomyelitis, Parotitis, Cutaneous abscess, Abnormality of the spleen...	ORPHA:31202
Medullary Thyroid Carcinoma	Pheochromocytoma, Neoplasm of the skeletal system, Medullary thyroid carcinoma, Abnormal liver pa...	ORPHA:1332
Mccune-Albright Syndrome	Irregular menstruation, Hepatitis, Increased circulating prolactin concentration, Goiter, Cholest...	ORPHA:562
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Gastrointestinal hemorrhage, Ascites, Esophageal neoplasm	ORPHA:2198
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Bacterial Toxic-Shock Syndrome	Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Elevated circulating creatinin...	ORPHA:36234
Pfapa Syndrome	Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:42642
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Cardiomyopathy, Hypogonadism	OMIM:608540
Pseudohypoparathyroidism Type 1A	Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Increased...	ORPHA:79443
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Macronodular cirrhosis, Abnormal T cell morphology	OMIM:215250
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Abnormal cortical bone morphology, Recurrent fractures	ORPHA:1486
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash, Anemia of inadequa...	OMIM:612714
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Pseudo-Torch Syndrome 3	Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenit...	OMIM:618886
Hijazi-Reis Syndrome	Hyperbilirubinemia, Gastroesophageal reflux, Chronic constipation	OMIM:301094
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Diarrhea, Ascites, Cardiomegaly, Anemia,...	ORPHA:858
B4Galt1-Cdg	Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the skin, Di...	ORPHA:79332
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Decreased liver func...	ORPHA:42
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Paget disease of bone, Elevated alkaline phosphatase of bone origin, Elevated circulating creatin...	OMIM:167320
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Increased serum pyruvate	OMIM:614741
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati...	OMIM:614872
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Micronodula...	OMIM:192315
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Dysphagia, Splenomegaly	ORPHA:77260
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Cholestasis, Tricuspid regurgitation, Hypocalcemia, Mit...	ORPHA:746
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoamylasemia, Decreased circulating lipoprotein lipase concentration, Absent gallbladder, Reduc...	ORPHA:556955
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,...	OMIM:616050
Infantile Myofibromatosis	Limitation of joint mobility, Osteolysis, Bone cyst, Hypercalcemia, Neoplasm of the pancreas	ORPHA:2591
Lipodystrophy, Familial Partial, Type 5	Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Hypertension, Increased C-peptide level	OMIM:615238
Congenital Disorder Of Glycosylation, Type In	Hepatomegaly	OMIM:612015
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Diffuse alveolar hemorrhage, Gastrointestinal hemorrhage, Melena, Ascites, Hypertro...	ORPHA:464321
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen...	OMIM:210250
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Reduced circulating acyl-CoA oxidase activity, Elevated circulating hepatic transam...	OMIM:264470
Focal Myositis	Weight loss, Elevated circulating creatine kinase concentration	ORPHA:48918
Meckel Syndrome, Type 1	Malformation of the hepatic ductal plate, Elevated amniotic fluid alpha-fetoprotein, Accessory sp...	OMIM:249000
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Osteomalacia, Hypophosphatemia, Recurrent fractures	OMIM:613388
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia, Splenomegaly, Hypoglycemia	ORPHA:664
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Abnormality of alkaline phosphatase level, Elevated circulating aspartate aminotransferase concen...	OMIM:620375
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Craniofacial osteosclerosis, Increased skull ossification, Hypocalcemia, Osteopetrosis, Diaphysea...	OMIM:618476
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypercalcemia, Hypophosphatemic rickets, Rickets	OMIM:612089
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Elevated circulating C-rea...	ORPHA:457077
Hydroxykynureninuria	Jaundice	OMIM:236800
Acquired Partial Lipodystrophy	Insulin resistance, Lymphocytosis, Hepatic steatosis	ORPHA:79087
Donohue Syndrome	Cholestasis, Hepatic fibrosis, Ovarian cyst, Pancreatic islet-cell hyperplasia	OMIM:246200
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarr...	OMIM:212065
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulating glycine concentra...	ORPHA:79096
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc...	OMIM:620282
Hereditary Chronic Pancreatitis	Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Elevated circulating C-reactive p...	ORPHA:676
Hyperzincemia With Functional Zinc Depletion	Vasculitis, Diarrhea, Increased serum zinc, Skin rash, Hepatomegaly	OMIM:601979
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Diarrhea, Abnormal T cell count, Lymphoma, Recurrent otitis media, Neoplasm,...	OMIM:240500
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Hepatic ...	OMIM:613095
Pyruvate Carboxylase Deficiency	Hepatomegaly, Increased serum pyruvate, Hyperalaninemia	OMIM:266150
Martinez-Frias Syndrome	Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal...	OMIM:601346
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Hypocholesterolemia, Splenomegaly, Hypoalbuminemia	OMIM:608776
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,...	ORPHA:79277
Dent Disease 2	Increased circulating lactate dehydrogenase concentration, Elevated circulating aspartate aminotr...	OMIM:300555
Eosinophilic Gastroenteritis	Hypoalbuminemia, Ascites, Leukocytosis, Eosinophilia, Elevated circulating C-reactive protein con...	ORPHA:2070
Fibrous Dysplasia Of Bone	Rickets, Increased circulating cortisol level, Osteomalacia, Cortical irregularity, Pathologic fr...	ORPHA:249
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Colon cancer, Pancre...	ORPHA:1333
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Syncope, Hepatom...	ORPHA:276556
Retinitis Pigmentosa 59	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cryptorchidism	OMIM:613861
Hypomagnesemia 3, Renal	Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Rickets, Hypo...	OMIM:248250
Diffuse Neonatal Hemangiomatosis	Ascites, Anemia, Hemangiomatosis, Thrombocytopenia, Hepatomegaly, Hypercalcemia, Visceral angioma...	ORPHA:2123
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase l...	OMIM:243800
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Hypophosphatemia,...	OMIM:300009
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Methylmalonic Aciduria, Cblb Type	Hypoglycemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemi...	OMIM:251110
Mitochondrial Complex I Deficiency, Nuclear Type 13	Decreased circulating carnitine concentration, Vomiting, Hypertrophic cardiomyopathy, Bradycardia...	OMIM:618235
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Hematological neoplasm, ...	ORPHA:1163
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul...	OMIM:144750
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Leber Congenital Amaurosis 1	Hepatomegaly, Hyperthreoninemia	OMIM:204000
Aicardi-Goutieres Syndrome 6	Chilblains, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	OMIM:615010
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Hypotension, Elevated circulating he...	OMIM:212138
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
Acrodysostosis 1 With Or Without Hormone Resistance	Neonatal epiphyseal stippling, Epiphyseal stippling, Hyperphosphatemia, Calvarial hyperostosis	OMIM:101800
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Focal pancreatic islet hyperpl...	ORPHA:276575
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased serum pyruvate, Neon...	OMIM:619046
Poems Syndrome	Visceromegaly, Polycythemia, Ascites, Splenomegaly, Lymphadenopathy, Thrombocytosis, Hepatomegaly...	ORPHA:2905
Congenital Myopathy 11	Abnormal circulating creatine kinase concentration, Elevated circulating hepatic transaminase con...	OMIM:619967
Tangier Disease	Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c...	OMIM:205400
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascites, Abnormal circu...	ORPHA:79239
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ...	ORPHA:37042
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Pulmonary arterial hypertension, Recurrent pneumonia, Constipation	ORPHA:464738
Secondary Short Bowel Syndrome	Cholestasis, Abnormal blood ion concentration, Low plasma citrulline, Enterocolitis	ORPHA:95427
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hepatic failure, Portal hypertension	OMIM:619431
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Hypertension, Acute pancreatitis, Hypertriglyceridemia	OMIM:608600
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka...	ORPHA:556037
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Cirrhosis, Hypertrophic cardiomyopathy	OMIM:616539
Fibrodysplasia Ossificans Progressiva	Ectopic ossification in ligament tissue, Progressive cervical vertebral spine fusion, Ectopic oss...	OMIM:135100
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Yellow Fever	Diarrhea, Pancreatic hyperplasia, Hyperbilirubinemia, Elevated circulating alanine aminotransfera...	ORPHA:99829
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyop...	ORPHA:156
Babesiosis	Hepatic failure, Congestive heart failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomega...	ORPHA:108
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Axial Osteomalacia	Polycystic liver disease, Elevated circulating creatine kinase concentration	OMIM:109130
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Vomiting, Diarrhea, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Juvenile Polyposis Syndrome	Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal...	ORPHA:2929
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutropenia	OMIM:266130
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Crigler-Najjar Syndrome	Jaundice, Abnormality of the liver, Infectious encephalitis	ORPHA:205
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration	OMIM:613312
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614859
Subaortic Stenosis-Short Stature Syndrome	Arrhythmia, Acne, Abnormal circulating lipid concentration, Biliary tract abnormality	ORPHA:3191
Acute Adrenal Insufficiency	Normocytic anemia, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased circulating cortisol leve...	ORPHA:95409
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o...	ORPHA:85188
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Increased circulating prolactin concentration, Goiter, Abnormal circ...	ORPHA:90674
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis, Bone marrow hypocellularity, Dilated cardiomyopathy, Aplastic anemia, Pancytope...	OMIM:613989
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:79126
Galactokinase Deficiency	Hepatosplenomegaly, Abnormal circulating enzyme concentration or activity, Hypercholesterolemia, ...	ORPHA:79237
Brucellosis	Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Abnormality of the liver, Hepat...	ORPHA:1304
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly, Hypertension	ORPHA:79084
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Immunodeficiency, Common Variable, 1	Pneumonia, Recurrent pneumonia, Diarrhea, Abnormal T cell count, Recurrent otitis media, Splenome...	OMIM:607594
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka...	ORPHA:556030
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hepatic ste...	OMIM:269700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Diarrhea, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic ane...	OMIM:618495
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepatic steatosis, Splen...	OMIM:608594
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Abnormal bleeding, Hepatitis, Melena, Maculopapular exanthema, Acute...	ORPHA:319218
Classic Mycosis Fungoides	Neoplasm of the skin, Eczematoid dermatitis, Lymphoma, Abnormal lymphocyte morphology, Skin rash,...	ORPHA:2584
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Weight loss, Lymphadenopathy, Hepa...	ORPHA:391
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Elevated gamma-glutamyltransferase level, Increased circulating very long-c...	OMIM:614866
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Schnitzler Syndrome	Vasculitis, Lymphoma, Leukocytosis, Skin rash, Splenomegaly, Anemia, Lymphadenopathy, Arthritis, ...	ORPHA:37748
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Nephroblastoma	Neoplasm, Nephroblastoma, Neoplasm of the liver, Weight loss, Lymphadenopathy, Hypertension, Neop...	ORPHA:654
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:98908
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatosplenomegaly, Spleno...	OMIM:610333
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Hypophosphatasia, Infantile	Unossified vertebral bodies, Elevated plasma pyrophosphate, Increased susceptibility to fractures...	OMIM:241500
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Parkinson Disease 17	Akinesia, Resting tremor, Tremor, Bradykinesia	OMIM:614203
Maternal Uniparental Disomy Of Chromosome 4	Type I diabetes mellitus, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, A...	ORPHA:96180
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Glycosuria, Pancytopenia, Leukopenia, Erythroid hyperpl...	ORPHA:447
Chronic Mucocutaneous Candidiasis	Skin rash, Cheilitis, Dyspareunia, Hepatitis	ORPHA:1334
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Low plasma citrulline, Elevat...	OMIM:261680
Squalene Synthase Deficiency	Hypocholesterolemia, Decreased LDL cholesterol concentration, Constipation, Increased circulating...	OMIM:618156
Combined Oxidative Phosphorylation Deficiency 40	Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ...	OMIM:618835
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:177735
Solitary Fibrous Tumor	Uterine neoplasm, Genital neoplasm, Pelvic mass, Vaginal neoplasm, Neoplasm, Prostate cancer, Sof...	ORPHA:2126
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypocholesterolemia	OMIM:618810
Indolent Systemic Mastocytosis	Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Skin rash,...	ORPHA:98848
Combined Oxidative Phosphorylation Deficiency 42	Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ...	OMIM:618839
Dengue Fever	Epistaxis, Gastrointestinal hemorrhage, Hypotension, Diarrhea, Ascites, Leukopenia, Skin rash, Th...	ORPHA:99828
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hepatitis, Psoriasiform dermatitis, Hashimoto thyroiditis, Hypoplasia of the ...	ORPHA:436252
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Bohring-Opitz Syndrome	Cholelithiasis, Vomiting, Annular pancreas, Medulloblastoma, Nephroblastoma, Cardiomegaly, Bradyc...	ORPHA:97297
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Hematochezia, Abnormal circulating protein concentration, Weight loss, Abnormal ...	ORPHA:103910
Potocki-Lupski Syndrome	Hypocholesterolemia, Gastroesophageal reflux, Oral-pharyngeal dysphagia	OMIM:610883
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Osteopetrosis, Hepatomegaly, H...	OMIM:612301
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno...	ORPHA:2072
Hyperlipoproteinemia, Type I	Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ...	OMIM:238600
Metachromatic Leukodystrophy	Abnormal circulating enzyme concentration or activity, Abnormal gallbladder morphology, Hemobilia...	ORPHA:512
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Predominantly dermal neutro...	ORPHA:293173
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hepatomega...	OMIM:618234
Pleural Mesothelioma	Hepatomegaly, Abnormal cardiovascular system physiology, Weight loss, Lymphadenopathy	ORPHA:50251
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pa...	OMIM:615122
Renal Hypoplasia, Bilateral	Anemia, Hyperkalemia, Hyponatremia, Glycosuria	ORPHA:97362
Familial Thrombocytosis	Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis	ORPHA:71493
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hepatomegaly,...	ORPHA:699
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Leptospirosis	Uveitis, Hypotension, Subconjunctival hemorrhage, Hepatitis, Pulmonary hemorrhage, Retinal hemorr...	ORPHA:509
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Lymphoma, Recurrent otitis media, Splenomegaly, Chronic sinusit...	ORPHA:397596
Propionic Acidemia	Hyperglycinuria, Hypoglycemia, Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Pancr...	OMIM:606054
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep...	OMIM:615438
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	OMIM:201450
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Lymphadenopathy, Anemia, Hyperprotei...	ORPHA:29073
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia	ORPHA:1930
Rift Valley Fever	Gingival bleeding, Elevated circulating hepatic transaminase concentration, Abnormal bleeding, He...	ORPHA:319251
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczematoid dermatitis, Hepatitis, Erythroderma, Glomerulonephritis, Arthritis	OMIM:304790
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Maturity-onset diabetes of the young,...	OMIM:609812
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo...	ORPHA:324636
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Osteomalacia, Hypophosphatemia, Pancreatitis, Hypercalcemia	OMIM:600740
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia	OMIM:620443
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Diarrhea, Vomiting, Cerebral ischemia, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, H...	ORPHA:927
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros...	OMIM:607634
Familial Cold Autoinflammatory Syndrome 1	Elevated circulating C-reactive protein concentration, Leukocytosis	OMIM:120100
Addison Disease	Normocytic anemia, Thymoma, Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Thiamine-respo...	ORPHA:85138
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hypoglycemia, Leukopenia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Thrombocytopenia, Neutro...	OMIM:251000
Generalized Pustular Psoriasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypocalcemia, Hyponatre...	ORPHA:247353
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney	OMIM:200995
Immunodeficiency 7	Diarrhea, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, L...	OMIM:615387
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Syncope, Hepatom...	ORPHA:276580
Cinca Syndrome	Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Hepatomegaly, Elevated circulating C-rea...	ORPHA:1451
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Sarcoidosis	Abnormal lymph node morphology, Arrhythmia, Erythema nodosum, Hepatomegaly, Tubulointerstitial ne...	ORPHA:797
Hypophosphatasia	Craniosynostosis, Hypercalcemia, Recurrent fractures	ORPHA:436
Late-Onset Isolated Acth Deficiency	Hypotension, Pituitary adenoma, Hepatitis, Hyperuricemia, Hyponatremia, Hashimoto thyroiditis, Ad...	ORPHA:199299
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro...	OMIM:615947
Muckle-Wells Syndrome	Elevated circulating C-reactive protein concentration, Leukocytosis	OMIM:191900
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Isolated Congenital Hypoglossia/Aglossia	Weight loss, Hamartoma	ORPHA:141152
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly, Jaundice, Conjugated hyperbilir...	ORPHA:168577
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis	OMIM:617913
Steinert Myotonic Dystrophy	Neoplasm of the skin, Diarrhea, Oral-pharyngeal dysphagia, Choroidal melanoma, Brain neoplasm, Pr...	ORPHA:273
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy	OMIM:613561
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Hb Bart'S Hydrops Fetalis	Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Glycosylphosphatidylinositol Biosynthesis Defect 16	Elevated circulating alkaline phosphatase concentration	OMIM:617816
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Elevated circulating creatinine concentration, Hepatosplenomegaly...	ORPHA:85450
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Eczematoid dermatitis, Superfici...	ORPHA:83617
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Atrioventricular block,...	ORPHA:398124
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, Elevated circulating...	OMIM:615980
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Glomerulon...	OMIM:619375
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Pulmonary arter...	ORPHA:422
Alagille Syndrome 1	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Exocrine p...	OMIM:118450
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Congestive heart failure, Ascites, Tricuspid regurgitation, Splenomegaly...	ORPHA:2414
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Vomiting, Cardiomyopathy, Acute hepatic ...	OMIM:616483
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, T lymphocytopenia, B-cell lymphoma, Lymphadenopat...	OMIM:619164
Shigellosis	Pneumonia, Hypovolemic shock, Hepatic failure, Conjunctivitis, Ulcerative colitis, Cholestasis, H...	ORPHA:810
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Low alkaline phosphatase, Elevated circulating alkaline phosphatase concentration	OMIM:618879
Hyperinsulinism Due To Hnf1A Deficiency	Palpitations, Syncope, Hepatomegaly, Tachycardia, Increased C-peptide level, Decreased circulatin...	ORPHA:324575
Osteogenesis Imperfecta, Type Xi	Osteopenia, Increased susceptibility to fractures, Elevated circulating alkaline phosphatase conc...	OMIM:610968
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Recurrent pneumonia, Skin rash, T lymphocytopenia, Hypoplasia of the thymus, Impaired ...	OMIM:300400
Hurler-Scheie Syndrome	Cardiomyopathy, Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Rhinitis	ORPHA:93476
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Leuk...	OMIM:615673
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr...	OMIM:620211
Weismann-Netter Syndrome	Abnormal cortical bone morphology	ORPHA:3344
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Cogan Syndrome	Anemia, Leukocytosis, Thrombocytosis	ORPHA:1467
Congenital Disorder Of Glycosylation, Type Ie	Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated circulating creat...	OMIM:608799
Alagille Syndrome	Cholestasis, Cryptorchidism, Reduced number of intrahepatic bile ducts, Telangiectasia of the ski...	ORPHA:52
Leukocyte Adhesion Deficiency, Type Iii	Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato...	OMIM:612840
Thymic Neuroendocrine Tumor	Osteopenia, Pancreatic islet cell adenoma, Hypercalcemia, Increased circulating cortisol level	ORPHA:97289
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated dia...	ORPHA:90041
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells, Steatorrhea	ORPHA:75233
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated gamma-glutamyltransferase level, Hepatic failure, Dilated cardiomyop...	OMIM:619573
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Distal Duplication 5Q	Aplasia/Hypoplasia of the gallbladder, Eczematoid dermatitis, Cryptorchidism	ORPHA:96097
Niemann-Pick Disease, Type A	Vomiting, Sea-blue histiocytosis, Ascites, Elevated circulating aspartate aminotransferase concen...	OMIM:257200
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Hypophosphatemic rickets, Pancreatic isl...	ORPHA:263455
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex	OMIM:619638
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Hypophosphatemic rickets	OMIM:618913
Immunoerythromyeloid Hypoplasia	Absent leukocyte alkaline phosphatase	OMIM:242880
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:159
Senior-Loken Syndrome 1	Anemia, Elevated circulating creatinine concentration	OMIM:266900
Autoinflammation With Arthritis And Dyskeratosis	Laryngeal papilloma, Hypereosinophilia, Splenomegaly, Corneal neovascularization, Autoimmune hemo...	OMIM:617388
Digeorge Syndrome	Cholelithiasis, Recurrent pneumonia, Parathyroid hypoplasia, Gastroesophageal reflux, Recurrent o...	OMIM:188400
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Abnormality of alkaline phosphatase level, Ivory epiphyses of the distal phalanges of...	OMIM:190350
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop...	ORPHA:3226
Nephronophthisis 11	Anemia, Hepatic fibrosis	OMIM:613550
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cr...	OMIM:615381
Kawasaki Disease	Hypoalbuminemia, Hepatitis, Cervical lymphadenopathy, Leukocytosis, Cholecystitis, Thrombocytosis...	ORPHA:2331
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Leukopenia, Hyperammonemia, Macrocytic anemia, Anemia, Pancreatitis, Thrombocytop...	ORPHA:27
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the scrotum, Uterine neoplasm, Increased circulating lactate dehydrogenase concentrat...	ORPHA:370348
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Lymphoma, Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive h...	OMIM:300853
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hepatosplenomegaly, Ileus, Portal hypertension, Cryptorchidism	OMIM:609136
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular ...	ORPHA:31150
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	ORPHA:1302
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Cholestasis, Tricuspid regurgitation, Recurrent otitis media, Pulmonary arterial hypertension, He...	OMIM:620233
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Vomiting, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypogl...	ORPHA:3008
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Thrombocytopenia	OMIM:224230
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Alstrom Syndrome	Irregular menstruation, Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase...	OMIM:203800
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Blepharitis, Periodontitis, Lymphoma, Neoplasm, Spl...	ORPHA:1775
Cryptococcosis	Pneumonia, Vomiting, Osteomyelitis, Neoplasm, Peritonitis, Cirrhosis, Prostatitis, Lymphoid leuke...	ORPHA:1546
Immunodeficiency 84	B-cell lymphoma, Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Mucopolysaccharidosis Type 7	Ascites, Splenomegaly, Hepatitis	ORPHA:584
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Recurrent pneumonia, Splenomegaly	OMIM:615637
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Triploidy	Hepatomegaly, Abnormality of the gallbladder, Cryptorchidism, Abnormality of the pancreas	ORPHA:3376
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Vasculitis, Hematochezia, Hepatitis, Increased ...	OMIM:615846
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate...	OMIM:616433
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis	OMIM:263210
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemia	OMIM:614736
Combined Oxidative Phosphorylation Deficiency 53	Septic arthritis, Osteomyelitis, Elevated circulating C-reactive protein concentration, Arthritis...	OMIM:619423
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Hypochromic anemia, Leukocytosis, Thrombocytosis	OMIM:618213
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes mellitus	OMIM:598500
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Thrombocytopenia, Hepatomegaly	OMIM:231000
Alg2-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity	ORPHA:79326
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Skin rash, Splenomegaly, Infectious encephaliti...	ORPHA:99745
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Iron deficiency anemia, Hypotriglyceridemia, Decreased HDL cholestero...	OMIM:618885
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Kaposi Sarcoma	Neoplasm of the skin, Abnormality of the spleen, Abnormality of the liver, Hemangioma, Generalize...	ORPHA:33276
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cryptorchidism	OMIM:618958
Lipe-Related Familial Partial Lipodystrophy	Hepatic steatosis, Polycystic ovaries, Elevated circulating creatine kinase concentration, Oligom...	ORPHA:435660
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Capillary hemangioma, Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Cryptorchidism, Throm...	ORPHA:163979
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Myositis, Hashimoto thyroiditis, Raynaud phenomenon	ORPHA:589
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hypocalcemia, Hypophosphatemia, Osteopetrosis, Hepatomegaly, Craniosynostosis, Redu...	ORPHA:667
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated circulating hepatic transaminase concentration, Ventricular bigeminy, Gastroesophageal r...	OMIM:610131
22Q11.2 Deletion Syndrome	Hypertensive crisis, Cholelithiasis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Spleno...	ORPHA:567
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Akt2-Related Familial Partial Lipodystrophy	Hepatic steatosis, Polycystic ovaries, Oligomenorrhea, Hypertriglyceridemia, Hepatomegaly	ORPHA:79085
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath...	OMIM:619424
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Left ventricular hypertrophy	OMIM:616733
Dent Disease	Delayed epiphyseal ossification, Renal hypophosphatemia, Rickets, Osteomalacia, Sparse bone trabe...	ORPHA:1652
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
X-Linked Hypophosphatemia	Rickets, Limitation of joint mobility, Elevated circulating alkaline phosphatase concentration, G...	ORPHA:89936
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Elevated total serum tryptase, Diarrhea, Vomiting, Abno...	ORPHA:79456
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Mody	Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc...	ORPHA:552
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumulation	OMIM:618042
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, Sp...	OMIM:610717
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly	OMIM:618107
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Osteogenesis Imperfecta, Type Xviii	Generalized osteoporosis, Recurrent fractures, Thin bony cortex, Joint hypermobility	OMIM:617952
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa...	OMIM:616263
Cold Agglutinin Disease	Diarrhea, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Skin rash, Hy...	OMIM:617591
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Vasculitis, Gastrointestinal hemorrhage, Cong...	ORPHA:91139
Hyperkalemic Periodic Paralysis	Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration	ORPHA:682
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperho...	OMIM:614857
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Nephronophthisis 3	Hepatic fibrosis, Enlarged kidney	OMIM:604387
Autoimmune Lymphoproliferative Syndrome	Neoplasm of the skin, Hypersplenism, Hodgkin lymphoma, Glomerulonephritis, Basal cell carcinoma, ...	ORPHA:3261
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Splenomegaly, Decreased beta-galactosidase activity, Thin bony cortex, Hepatomegaly	OMIM:230600
Genitopalatocardiac Syndrome	Abnormal mesentery morphology, Abnormality of the gallbladder, Cryptorchidism	ORPHA:2075
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Vomiting, Erysipelas, Hepatic amyloidosis, Cervical lymphadenopathy,...	OMIM:142680
Congenital Disorder Of Deglycosylation 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Oral-pharyngeal dyspha...	OMIM:615273
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Palpable purpura, Cerebr...	ORPHA:48435
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Decreased response to growth hormone stimulation test, Recurrent otitis media, Pyoderm...	OMIM:307200
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy...	ORPHA:158029
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutrophilia, Elevat...	OMIM:617099
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration	OMIM:616917
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Glycosylphosphatidylinositol Biosynthesis Defect 17	Osteomyelitis, Abnormality of alkaline phosphatase level, Hypertriglyceridemia	OMIM:618010
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Angiofibromas, Desmoid tumors, Neoplasm ...	ORPHA:733
Cerebrotendinous Xanthomatosis	Prolonged neonatal jaundice, Cholelithiasis, Abnormal circulating enzyme concentration or activit...	ORPHA:909
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Ascites, Hepatic fibrosis	OMIM:614091
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Verrucae, Increased...	OMIM:301082
Cranioectodermal Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Hepatic cysts, Hypoc...	OMIM:218330
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Type II diabete...	OMIM:618620
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa...	OMIM:609981
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Splenomegaly, Decreased beta-galactosidase activity	OMIM:230650
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Polycystic ovaries, Pancreatitis, Oligomenorrhea, Hypertriglyceridemia, Hepato...	ORPHA:435651
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Interstitial Nephritis, Karyomegalic	Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Hypoalbuminemia, Hypoglycemia, Lymphopenia, Abnormal lymph...	ORPHA:99826
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Morbilliform rash, Erythema nodosum, Hepatomegaly, Jaundice, Tachycardia, Purp...	ORPHA:99827
Multiple Endocrine Neoplasia Type 4	Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Renal angiomyolipoma,...	ORPHA:276152
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Elevated circulating aspartate aminotransferase conce...	OMIM:170100
Saccharopinuria	Hypercystinemia, Hyperammonemia, Hyperlysinemia, Abnormal circulating enzyme concentration, Eleva...	ORPHA:3124
Zollinger-Ellison Syndrome	Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Multiple lipomas, Ele...	ORPHA:913
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Purpura, Enlarged kidney	OMIM:613496
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Eczematoid dermatitis, Hypocalcemic tetany, Aplasia of the thymus, Atypical or prolong...	ORPHA:83471
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Recurrent skin infections	OMIM:620210
Bachmann-Bupp Syndrome	Hyperbilirubinemia, Hypoglycemia	OMIM:619075
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Anemia, Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	OMIM:615424
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Neuroendocrine Tumor Of The Colon	Hypotension, Elevated circulating hepatic transaminase concentration, Right ventricular failure, ...	ORPHA:100080
Glycogen Storage Disease Ii	Reduced muscle alpha-1,4-glucosidase activity, Increased circulating lactate dehydrogenase concen...	OMIM:232300
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Spondyloenchondrodysplasia	Pneumonia, Vasculitis, Hepatitis, Decreased response to growth hormone stimulation test, Skin ras...	ORPHA:1855
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Interstitial pneumonitis, Petechiae, Splenomegaly, Vasculitis in the skin, Hepatomegaly, Purpura	OMIM:620296
Bardet-Biedl Syndrome 1	Hepatic fibrosis, Abnormality of the ovary, Decreased testicular size, Biliary tract abnormality,...	OMIM:209900
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis	ORPHA:2031
Pachydermoperiostosis	Limitation of joint mobility, Osteomyelitis, Abnormal cortical bone morphology, Splenomegaly, Art...	ORPHA:2796
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Pancreatic lymphangiectasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Hypoprote...	OMIM:235255
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney	OMIM:602088
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c, Diabetes mellitus	OMIM:619278
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Decreased acid ceramidase activity, Arthritis, Hepatomegaly	OMIM:228000
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Di...	ORPHA:36238
Osteopetrosis With Renal Tubular Acidosis	Abnormal circulating enzyme concentration or activity, Hypocalcemia, Elevated circulating creatin...	ORPHA:2785
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculat...	ORPHA:247691
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Cardiomyopathy, Decreased plas...	ORPHA:157
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm...	OMIM:301078
Melnick-Needles Syndrome	Craniofacial hyperostosis, Osteolytic defects of the phalanges of the hand, Abnormal cortical bon...	ORPHA:2484
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Hyperammonemia	OMIM:610678
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun...	ORPHA:276
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:610377
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Diarrhea, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Spleno...	OMIM:616100
Oculoskeletodental Syndrome	Elbow flexion contracture, Splenomegaly, Hypocalcemia, Hepatomegaly, Hypercalcemia	OMIM:618440
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Methylmalonic Acidemia With Homocystinuria Type Cblf	Elevated circulating palmitoleylcarnitine concentration, Skin rash, Reduced number of intrahepati...	ORPHA:79284
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Nephronophthisis 13	Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts	OMIM:614377
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Splenomegaly, Skin rash, Pustule, Elevated circulating C-reactive protein concentr...	OMIM:612852
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Abnormality o...	ORPHA:90308
Congenital Rubella Syndrome	Hepatomegaly, Jaundice, Skin rash, Splenomegaly	ORPHA:290
Polyarteritis Nodosa	Cardiomyopathy, Weight loss, Raynaud phenomenon, Elevated circulating C-reactive protein concentr...	ORPHA:767
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo...	OMIM:617718
Pseudomyxoma Peritonei	Ascites, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Gray Platelet Syndrome	Epistaxis, Myelodysplasia, Splenomegaly, Thrombocytopenia	ORPHA:721
Hereditary Fructose Intolerance	Hypermagnesemia, Reduced circulating aldolase concentration, Diarrhea, Vomiting, Hyperuricemia, N...	ORPHA:469
Cartilage-Hair Hypoplasia	Limited elbow extension, Hypocalcemia, Joint hypermobility, Abnormality of the pancreas, Abnormal...	ORPHA:175
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Incr...	OMIM:613179
Cystic Fibrosis	Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Meconium ileus,...	ORPHA:586
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Ascites	ORPHA:87876
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Elevated circulating cre...	OMIM:617713
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Peutz-Jeghers Syndrome	Gastrointestinal carcinoma, Uterine neoplasm, Intestinal bleeding, Bile duct polyp, Ovarian cyst,...	OMIM:175200
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Cardiomyopathy, Palpitations, Hyperlipidemia, Splenomegaly,...	ORPHA:565612
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Annular pancreas, Absent gallbladder, Pulmonary arterial hypertension, Asp...	ORPHA:210122
American Trypanosomiasis	Diarrhea, Cardiomyopathy, Congestive heart failure, Skin rash, Splenomegaly, Infectious encephali...	ORPHA:3386
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Congestive heart failur...	ORPHA:67
Fanconi Anemia, Complementation Group Q	Biliary atresia	OMIM:615272
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neop...	ORPHA:440437
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration	OMIM:613839
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Congenital Tufting Enteropathy	Cholestatic liver disease, Punctate keratitis, Arthritis	ORPHA:92050
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Atopic dermatitis, Diarrhea, ...	ORPHA:436159
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Increased circulating lactate dehydrogenase concentration, Hypertrophic cardiomyopathy, Abnormal ...	ORPHA:308552
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism	OMIM:264350
Biotinidase Deficiency	Diarrhea, Vomiting, Skin rash, Splenomegaly, Hyperammonemia, Seborrheic dermatitis, Decreased cir...	OMIM:253260
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia, Vomiting	OMIM:609727
Familial Mediterranean Fever	Neutrophilia, Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, C...	OMIM:249100
Infantile Refsum Disease	Hepatomegaly, Elevated circulating phytanic acid concentration, Arrhythmia, Cardiomyopathy	ORPHA:772
Infection-Related Hemolytic Uremic Syndrome	Brain abscess, Leukocytosis, Hypocalcemia, Hyponatremia, Pancreatitis, Thrombocytopenia, Hyperkal...	ORPHA:544482
Rett Syndrome	Increased serum pyruvate, Hyperammonemia, Cholecystitis	ORPHA:778
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	ORPHA:404454
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Ascites, Splenomegaly, Seborrheic ...	OMIM:301072
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis	ORPHA:2902
Combined Oxidative Phosphorylation Deficiency 19	Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent...	OMIM:615595
Arima Syndrome	Hepatic fibrosis, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly, Hypertension	OMIM:243910
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Decreased testicular size, Pancytopenia, Leukopenia, Cryptorchidism,...	OMIM:305000
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Right ventricular failu...	ORPHA:100078
Paget Disease Of Bone 6	Osteoarthritis, Recurrent fractures, Elevated circulating alkaline phosphatase concentration	OMIM:616833
Perlman Syndrome	Abnormal pancreas morphology, Capillary hemangioma, Cryptorchidism, Nephroblastoma, Hepatomegaly	ORPHA:2849
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Hypertrophic cardiomyopathy, Hyperammonemia, Cryptorchidism, Infectious...	ORPHA:1194
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cryptorchidism	OMIM:613730
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hep...	ORPHA:1655
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:603909
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Vomiting, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Nausea...	OMIM:241150
Developmental And Epileptic Encephalopathy 102	Hepatomegaly, Gastroesophageal reflux, Chronic constipation	OMIM:619881
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Polycysti...	ORPHA:2348
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Neuroendocrine Tumor Of The Rectum	Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric...	ORPHA:100082
Mucopolysaccharidosis, Type Iiib	Diarrhea, Splenomegaly, Reduced tissue alpha-N-acetylglucosaminidase activity, Cardiomegaly, Hepa...	OMIM:252920
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Autoimmune hemolyt...	ORPHA:100026
Microcephaly, Amish Type	Hepatomegaly	OMIM:607196
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Pancreatitis, Hypocalcemic seizures, Hyper...	ORPHA:405
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Abnormal circulating lactate dehydrogenase concentration, Elevated circulating hepatic transamina...	ORPHA:284426
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,...	ORPHA:456312
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration	ORPHA:6
Pentalogy Of Cantrell	Absent gallbladder, Polysplenia	ORPHA:1335
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Neonatal hyperbilirubinemia, Hypoglycemia	ORPHA:73272
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Ascites, Lymphopenia, Intestinal lymphangie...	ORPHA:90362
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Senior-Loken Syndrome 8	Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts	OMIM:616307
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Membranous nephropath...	OMIM:618999
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Cardiomyopathy, Decreased plas...	ORPHA:228308
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Ileus, Splenomegaly...	OMIM:613327
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Hypoalbuminemia, Vomiting, Gastroesophageal reflux, Eczematoid dermati...	OMIM:270400
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:613986
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Hepatitis, Eczematoid dermatitis, Chronic mucocutaneous can...	ORPHA:391487
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Sézary Syndrome	Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Erythroderma, Lymph...	ORPHA:3162
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemi...	OMIM:251100
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Osteopenia, Osteoporosis, Elevated tissue non-specific alkaline ...	ORPHA:785
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Tularemia	Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph...	ORPHA:3392
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Craniometadiaphyseal Dysplasia	Osteopenia, Sclerosis of skull base, Elevated circulating alkaline phosphatase concentration	OMIM:269300
Cranioectodermal Dysplasia 3	Cirrhosis	OMIM:614099
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis	ORPHA:98827
8P Inverted Duplication/Deletion Syndrome	Aplasia/Hypoplasia of the gallbladder, Cryptorchidism	ORPHA:96092
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration, Glycosuria	OMIM:615605
Zygomycosis	Pustule, Hematological neoplasm, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemor...	ORPHA:73263
Alkaptonuria	Aortic valve stenosis, Hemolytic anemia, Black pigment gallstones, Mitral regurgitation, Mitral s...	ORPHA:56
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Decreased testicular size, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc...	OMIM:201100
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Hypertrophic cardiomyopathy	ORPHA:79279
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Hypoalbuminemia, Intractable diarrhea, Diarrhea, Vomiting, Pustular rash, Hepatitis, R...	OMIM:619381
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Cystathioninemia, Cystathioninuria, Elevated circulating propionylcarnitine conce...	OMIM:277380
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticulocytopenia, Hyperhomo...	OMIM:275350
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Hyperphosphatemia, Decreased liver function, Hypocalcemia, Elevated circulating ...	ORPHA:466650
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Diarrhea, Stomach cancer, Intestinal polyposis, Splenomegaly, Neoplas...	ORPHA:2930
Meckel Syndrome 14	Tricuspid regurgitation, Hepatic fibrosis, Mitral regurgitation	OMIM:619879
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Positive regitine bl...	ORPHA:94080
Isolated Atp Synthase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypogonadism, Hyperammonemia, Arrhythmia, Hy...	ORPHA:254913
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Increased proportion of transitional B cells, Lymphadenopathy, Decreased proportion...	OMIM:615513
Stiff Person Spectrum Disorder	Difficulty walking, Falls, Exaggerated startle response	ORPHA:3198
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Omenn Syndrome	Pneumonia, Lymphoma, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinoph...	ORPHA:39041
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly	ORPHA:251009
Necrotizing Enterocolitis	Ascites, Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Peritonitis, Th...	ORPHA:391673
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Red...	OMIM:232220
Muckle-Wells Syndrome	Vasculitis, Recurrent aphthous stomatitis, Episcleritis, Skin rash, Splenomegaly, Anemia, Arthrit...	ORPHA:575
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Vomiting, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hyperglycinemia, Hepatomegaly	OMIM:614299
Castleman Disease	Mediastinal lymphadenopathy, Restrictive cardiomyopathy, Follicular hyperplasia, Anemia, Generali...	ORPHA:160
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Acute Disseminated Encephalomyelitis	Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis	ORPHA:83597
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Episcleritis, Chondriti...	ORPHA:728
Alg12-Cdg	Hypoalbuminemia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Ga...	ORPHA:79324
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, ...	ORPHA:90033
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase, Postprandial hyperglycemia	ORPHA:681
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elevated circulating alkaline phosphatase concentration, Microvesicular hepatic steatosis, Cirrho...	OMIM:300868
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat...	ORPHA:329178
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Cirrhosis, Polycythemia, Facial telangiectasia, Cerebral hemorrhage,...	OMIM:600376
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Thoraco-Abdominal Enteric Duplication	Hepatomegaly	ORPHA:1759
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly	ORPHA:50812
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Hypoplasia of the thymus, Jaundice, Hepatomegaly, Elevated circulating long chain...	OMIM:214110
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Atopic dermatitis, Fetal ascites, Hypomagnesemia, Cholestasis, Recurrent o...	OMIM:619503
Polyendocrine-Polyneuropathy Syndrome	Elevated hemoglobin A1c, Type I diabetes mellitus, Hypoglycemia	OMIM:616113
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,...	ORPHA:340
Raine Syndrome	Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Subperiosteal bone for...	OMIM:259775
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Juvenile Polyposis Syndrome	Anemia, Hypokalemia, Hypoalbuminemia	OMIM:174900
Orthostatic Hypotension 2	Anemia, Hypoglycemia	OMIM:618182
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Splenomegaly, ...	OMIM:251290
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Postural hypotensi...	ORPHA:85443
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Congestive heart failure, Squamous cell carcinoma of the skin, Papillary r...	ORPHA:363618
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplas...	OMIM:602450
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Increase...	ORPHA:90791
Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Hypocalcemia	OMIM:300712
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Sepsis In Premature Infants	Hypotension, Diarrhea, Vomiting, Decreased liver function, Leukocytosis, Splenomegaly, Anemia, En...	ORPHA:90051
Ménétrier Disease	Hypoalbuminemia, Gastrointestinal hemorrhage, Stomach cancer, Multiple gastric polyps, Weight los...	ORPHA:2494
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Noncompaction c...	OMIM:616651
Mucopolysaccharidosis, Type Iiia	Diarrhea, Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity, Splenomegaly, Hepatomegal...	OMIM:252900
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Lymphoma, Abnormal lymphocyte morphology, Episc...	ORPHA:47612
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Hypersplenism, Pancytopenia, Splenomegaly, Mitral regurgitation...	OMIM:230800
Free Sialic Acid Storage Disease	Hepatomegaly, Splenomegaly, Ascites	ORPHA:834
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Colchicine Poisoning	Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal...	ORPHA:31824
16P12.1P12.3 Triplication Syndrome	Decreased response to growth hormone stimulation test, Abnormal intrahepatic bile duct morphology...	ORPHA:485405
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Intracrani...	ORPHA:85212
Neuroendocrine Tumor Of Stomach	Hepatic failure, Elevated circulating hepatic transaminase concentration, Right ventricular failu...	ORPHA:100075
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Supernumerary nipple, Elevated circulating creatinine concentration, Glomerulonephritis, Hepatome...	OMIM:614376
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Elevated circulating aspartate amin...	OMIM:620300
Attrv30M Amyloidosis	Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss	ORPHA:85447
Hemolytic Anemia, Congenital, X-Linked	Jaundice	OMIM:301015
Reni Syndrome	Hypoalbuminemia, Lymphopenia, Hypoglycemia, Hypertriglyceridemia	OMIM:617575
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Familial Chylomicronemia Syndrome	Pulmonary embolism, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlip...	ORPHA:444490
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis	OMIM:619183
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Pulmonary arterial hypertension, Erythema nodosum, Hepatomegaly, Mediastinal lympha...	OMIM:612387
Neuraminidase Deficiency	Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-m...	OMIM:256550
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Ankle flexion contracture, Carpal osteolysis, Interphalangeal joint contracture of fi...	OMIM:259600
Caspase 8 Deficiency	Pneumonia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Chronic...	OMIM:607271
Whipple Disease	Uveitis, Gastrointestinal hemorrhage, Hypotension, Diarrhea, Splenomegaly, Infectious encephaliti...	ORPHA:3452
Central Diabetes Insipidus	Hyponatremia, Weight loss, Failure to thrive	ORPHA:178029
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec...	OMIM:300755
Joubert Syndrome 1	Hepatic fibrosis	OMIM:213300
Timothy Syndrome	Hypocalcemia	OMIM:601005
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Gout, Hyperlipidemia, Hyperuricemia, Pan...	OMIM:232200
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality...	ORPHA:33355
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Elevated gamma-glutamyltransferase level, Exocrine pancreatic insufficiency, Absent gallbladder, ...	OMIM:618500
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Birk-Landau-Perez Syndrome	Increased circulating creatine kinase MB isoform, Hyperkalemia	OMIM:617595
Metachromatic Leukodystrophy, Late Infantile Form	Cholecystitis	ORPHA:309256
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
Malignant Peritoneal Mesothelioma	Ascites, Peritonitis, Neoplasm, Weight loss	ORPHA:168811
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Increas...	OMIM:222700
Joubert Syndrome 8	Prolonged neonatal jaundice, Hepatomegaly	OMIM:612291
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:33577
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, Hepatomegaly,...	ORPHA:50918
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Common Variable Immunodeficiency	Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Bronchiectasis, L...	ORPHA:1572
Hypocomplementemic Urticarial Vasculitis	Diarrhea, Lymphoma, Ascites, Episcleritis, Splenomegaly, Skin rash, Inflammatory abnormality of t...	ORPHA:36412
Familial Isolated Restrictive Cardiomyopathy	Abnormal left ventricular function, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral ...	ORPHA:75249
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia, Hepatomegaly,...	OMIM:251900
Juvenile Nephropathic Cystinosis	Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H...	ORPHA:411634
Anemia, Congenital Dyserythropoietic, Type Iiia	Increased circulating lactate dehydrogenase concentration, Macrocytic anemia, Anemia of inadequat...	OMIM:105600
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Keratitis, Sinus tachycardia, Diarrhea, ...	ORPHA:525731
Williams Syndrome	Cholelithiasis, Gastroesophageal reflux, Abnormal circulating lipid concentration, Congestive hea...	ORPHA:904
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Tachycardia, Palpitations, Weight loss	OMIM:188580
Metachromatic Leukodystrophy, Juvenile Form	Cholecystitis	ORPHA:309263
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Anemia, Hypophosphatemia, Constipation, Calcinosis, Hepatomegaly, Hypercalcemia, Pr...	OMIM:239200
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Abnormal cortical bone morphology, Increased susceptibility to fractures, Hy...	ORPHA:2769
Mulibrey Nanism	Congestive heart failure, Ascites, Nephroblastoma, Cardiomegaly, Hepatomegaly	OMIM:253250
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive...	ORPHA:49041
Majeed Syndrome	Failure to thrive, Leukocytosis, Splenomegaly, Cachexia, Weight loss, Hypochromic microcytic anem...	ORPHA:77297
Bronchial Neuroendocrine Tumor	Pneumonia, Hepatic failure, Hypotension, Right ventricular failure, Cardiogenic shock, Protracted...	ORPHA:97287
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Elbow contracture, Sclerosis of skull base, Delayed pubic bone ossification, El...	OMIM:618162
Urachal Cyst	Leukocytosis, Abscess, Peritonitis, Elevated circulating C-reactive protein concentration, Abdomi...	ORPHA:488
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Cardiogenic Shock	Impaired myocardial contractility, Hypotension, Right ventricular failure, Abnormal left ventricu...	ORPHA:97292
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Decreased liver function, Congestive heart failure, Elevated circulating...	OMIM:608779
Alström Syndrome	Testicular fibrosis, Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic steato...	ORPHA:64
Hyperparathyroidism, Transient Neonatal	Osteopenia, Fractured rib, Splenic cyst, Elevated circulating alkaline phosphatase concentration,...	OMIM:618188
Aicardi-Goutieres Syndrome 1	Vasculitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Splenomegaly...	OMIM:225750
Listeriosis	Arteritis, Diarrhea, Pustule, Jaundice, Endocarditis, Osteomyelitis, Peritonitis, Hepatic granulo...	ORPHA:533
Estrogen Resistance	Osteopenia, Elevated alkaline phosphatase of bone origin	OMIM:615363
Sweet Syndrome	Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Elevated circulating C-reactive...	ORPHA:3243
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly	ORPHA:2971
Chronic Granulomatous Disease	Eczematoid dermatitis, Splenomegaly, Otitis media, Inflammatory abnormality of the eye, Sinusitis...	ORPHA:379
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Hepatomegaly, Acute...	OMIM:260400
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Livedoid Vasculopathy	Polycythemia, Abnormal circulating lipid concentration, Pancytopenia, Leukocytosis, Hyperhomocyst...	ORPHA:542643
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Decreased circulating carnitine concentration, Reduced HMG-CoA lyase activity in cultured fibrobl...	OMIM:246450
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Peritonitis, Arthritis, H...	ORPHA:343
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Eleva...	ORPHA:330001
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Gout, Hepatic s...	ORPHA:412
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Weight loss, Hemophagocytosis	ORPHA:86884
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Hypoglycemic seizures, ...	ORPHA:361
Vacterl/Vater Association	Cavernous hemangioma, Abnormality of the gallbladder, Cryptorchidism, Abnormality of the pancreas	ORPHA:887
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Glutaric Acidemia I	Hepatomegaly, Elevated circulating glutaric acid concentration, Reduced peroxisomal glutaryl-CoA ...	OMIM:231670
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis, Hepatomegaly, ...	ORPHA:99931
Metachromatic Leukodystrophy, Adult Form	Orthostatic hypotension due to autonomic dysfunction, Neoplasm of the gallbladder, Cholecystitis	ORPHA:309271
Peritoneal Cystic Mesothelioma	Peritonitis, Neoplasm, Weight loss	ORPHA:168816
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Ascites, Bradycardia, Petechiae, Cerebra...	OMIM:617397
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Low cholesterol esterification...	OMIM:607625
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase	OMIM:254700
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie...	OMIM:187300
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Tako-Tsubo Cardiomyopathy	Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral...	ORPHA:66529
Infantile Nephropathic Cystinosis	Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia, Rickets	ORPHA:411629
Glycosylphosphatidylinositol Biosynthesis Defect 25	Low alkaline phosphatase, Ankle flexion contracture	OMIM:619985
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Elevated circulating alkaline phosphatase concentration, Joint hypermobility	OMIM:618590
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hamartoma of tongue, Hepatic fibrosis, Tricuspid regurgitation, Pancreatic fibrosis	OMIM:263520
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Increased serum beta-hexosaminidase, Cardiomyopathy, Increased iduronate su...	OMIM:252600
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Pr...	ORPHA:331206
Orofaciodigital Syndrome I	Hepatic fibrosis, Hamartoma of tongue, Hepatic cysts, Ovarian cyst, Hypothalamic hamartoma, Pancr...	OMIM:311200
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Stüve-Wiedemann Syndrome	Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Elbow flexion contracture, Abn...	ORPHA:3206
Transketolase Deficiency	Elevated circulating ribitol concentration, Seborrheic dermatitis, Hepatomegaly, Conjunctivitis, ...	ORPHA:488618
Acquired Hypertrichosis Lanuginosa	Neoplasm of the respiratory system, Neoplasm, Weight loss, Lymphadenopathy, Ovarian neoplasm, Neo...	ORPHA:2221
Steinfeld Syndrome	Absent gallbladder	OMIM:184705
Diencephalic Syndrome	Neoplasm of the nervous system, Cachexia, Decreased body weight	ORPHA:1672
Diaphanospondylodysostosis	Nephroblastomatosis, Enlarged kidney, Abnormal liver lobulation	OMIM:608022
Eiken Syndrome	Delayed epiphyseal ossification, Delayed tarsal ossification, Delayed ossification of carpal bone...	OMIM:600002
Ogden Syndrome	Diarrhea, Recurrent otitis media, Torsade de pointes, Hyperbilirubinemia, Cryptorchidism, Prematu...	OMIM:300855
Paternal Uniparental Disomy Of Chromosome 1	Craniosynostosis, Recurrent fractures, Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Chronic Hiccup	Weight loss	ORPHA:396
Hypercalcemia, Infantile, 1	Weight loss, Hypercalcemia, Failure to thrive	OMIM:143880
Combined D-2- And L-2-Hydroxyglutaric Aciduria	Hepatomegaly	OMIM:615182
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Recurrent tonsillitis, Polycyt...	ORPHA:2968
Cardiomyopathy, Familial Hypertrophic, 4	Atrioventricular block, Congestive heart failure, Ascites, Hypertrophic cardiomyopathy, Transient...	OMIM:115197
Short-Rib Thoracic Dysplasia 12	Periportal fibrosis, Ascites, Hamartoma of tongue, Splenomegaly, Hypoplastic nipples, Hepatomegaly	OMIM:269860
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Lymphopenia, He...	OMIM:618935
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Cardiac arrest, Increased serum pyruvate, Hypertrophic cardiomyopathy	OMIM:604377
Immunodeficiency 10	Hypoglycemia, Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopat...	OMIM:612783
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Hypertrophic cardiomyopathy, Anemia, Weight loss, Hepatomegaly	ORPHA:1842
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Trisomy 8P	Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Constipation, Neuroblast...	ORPHA:264450
Glycogen Storage Disease Ic	Inflammation of the large intestine, Spider hemangioma, Cyclic neutropenia, Chronic pancreatitis,...	OMIM:232240
Osteogenesis Imperfecta, Type Vi	Increased susceptibility to fractures, Elevated circulating alkaline phosphatase concentration, J...	OMIM:613982
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Failure to thrive	OMIM:612075
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Lujo Hemorrhagic Fever	Hypotension, Elevated circulating hepatic transaminase concentration, Increased circulating lacta...	ORPHA:319213
Neuroblastoma	Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent...	ORPHA:635
Occipital Horn Syndrome	Hepatitis, Bruising susceptibility, Cholestasis, Esophagitis, Exostoses, Jaundice	ORPHA:198
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Abnormality of alkaline phosphatase level	OMIM:619356
Mucopolysaccharidosis, Type Iiic	Diarrhea, Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Dysphagia	OMIM:252930
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Splenomegaly	OMIM:618541
Obesity Due To Sim1 Deficiency	Hypotension, Postural hypotension with compensatory tachycardia	ORPHA:369873
Lead Poisoning	Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentration, Abnormal T cell morphol...	ORPHA:330015
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Vasculitis, Weight loss	OMIM:180300
Agammaglobulinemia 8B, Autosomal Recessive	Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased propor...	OMIM:619824
Scheie Syndrome	Hepatomegaly, Rhinitis, Splenomegaly, Aortic regurgitation	ORPHA:93474
Immunodeficiency 59 And Hypoglycemia	Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Prolonged ne...	OMIM:233600
Degcags Syndrome	Pneumonia, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, H...	OMIM:619488
Shwachman-Diamond Syndrome	Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo...	ORPHA:811
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233690
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Neoplasm, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic ane...	ORPHA:169090
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Isaacs Syndrome	Weight loss	ORPHA:84142
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Joint hypermobility, Low alkaline phosphatase, Hypertriglyceridemia, Craniosynostosis...	ORPHA:369837
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycemia, Left ventricular hypertrophy, Leukocytosis, Hypercholesterolemia	ORPHA:90065
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Postprandial hyperglycemia, Hypomagnesemia, Transient hypophosphatemia, Hyp...	ORPHA:79102
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Biliary at...	ORPHA:2255
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Elevated circulating creatine kinase concentration	ORPHA:1933
Osteogenesis Imperfecta, Type X	Osteopenia, Joint hypermobility, Generalized joint hypermobility, Decreased calvarial ossificatio...	OMIM:613848
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Reduced tissue fructose-1,6-bisphosphatase activity	OMIM:229700
Poikiloderma With Neutropenia	Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Recurrent otitis ...	OMIM:604173
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Jaundice, Hyperkalemia	ORPHA:90790
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Increased susceptibility to fractures, Calcinosi...	ORPHA:2909
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Osteomalacia, Hypophosphatemic ricke...	ORPHA:3337
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronis...	OMIM:601678
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Hypophosphatemia, Pancreatitis, Osteoporosis, Hypercalcemia	ORPHA:99880
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Nephritis, Recurrent pneumonia, Bone marrow hypocellularity, Congestive heart fa...	OMIM:617303
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Leukocyte Adhesion Deficiency, Type I	Elevated circulating C-reactive protein concentration, Leukocytosis, Rectal abscess	OMIM:116920
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Elevated total serum tryptase, Increased blood urea nitr...	ORPHA:94059
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Hennekam Syndrome	Craniosynostosis, Splenomegaly, Camptodactyly of finger, Hypocalcemia	ORPHA:2136
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia, Recurrent cutaneous abscess formation, Neutropenia	ORPHA:163956
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lymphadenopathy, Le...	ORPHA:809
Neuroendocrine Neoplasm Of Appendix	Adenocarcinoma of the colon, Hypotension, Elevated circulating hepatic transaminase concentration...	ORPHA:100079
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Joubert Syndrome 37	Hepatomegaly, Decreased testicular size, Cryptorchidism	OMIM:619185
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Tachycardia, Weight loss	OMIM:613239
Lynch Syndrome	Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop...	ORPHA:144
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Hypophosphatemia, Pancreatitis, Osteoporosis, Hypercalcemia	ORPHA:143
Glutaric Acidemia Type 3	Elevated circulating glutaric acid concentration, Abnormal circulating enzyme concentration	ORPHA:35706
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, HbH hemoglobin	ORPHA:98791
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Vasculitis, Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin ...	ORPHA:32960
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure...	ORPHA:75566
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Aredyld Syndrome	Hepatomegaly, Splenomegaly, Refractory anemia with ringed sideroblasts	ORPHA:1133
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Systemic Capillary Leak Syndrome	Hypotension, Leukocytosis, Arrhythmia, Weight loss, Pancreatitis, Myocarditis, Multiple myeloma, ...	ORPHA:188
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri...	ORPHA:3287
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Sinus tachycardia, Congestive heart failure, Cerebral hemorrhage, ...	ORPHA:276621
Letterer-Siwe Disease	Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice	OMIM:246400
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:619167
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level	OMIM:619406
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus	ORPHA:439232
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyperkalemia, Abnormal circulating cholesterol concentration, Hyponatremia, Decreased circulating...	ORPHA:168558
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Cachexia	ORPHA:93941
Bardet-Biedl Syndrome	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	ORPHA:110
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyperkalemia, Abnormal circulating cholesterol concentration, Hyponatremia, Decreased circulating...	ORPHA:289548
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Vomiting, Diarrhea	OMIM:560000
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Pulmonic stenosis, Pulmonary arterial hypert...	OMIM:616028
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m...	ORPHA:2658
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Ganglioneuroblastoma, Ganglioneuroma, Abdominal mass, Weight loss, Neuroblasto...	OMIM:256700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Prolonged bleeding following procedure, Hepat...	ORPHA:79259
Hypothyroidism, Congenital, Nongoitrous, 2	Goiter, Hyperbilirubinemia, Constipation, Bradycardia, Thyroid hypoplasia, Increased circulating ...	OMIM:218700
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss, Abnormal circulating lipid concentration, Hyperlipoproteinemia	ORPHA:1979
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Cardiomyopathy, Hepatic steatosis, Decreased liver function	OMIM:614922
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Reduced tissue manno...	OMIM:606056
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Abnormality of alkaline phosphatase leve...	OMIM:137920
Dubowitz Syndrome	Gastroesophageal reflux, Eczematoid dermatitis, Hypocholesterolemia, Otitis media, Episodic vomit...	OMIM:223370
Sandhoff Disease	Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatomegaly, Impotence, Reduced beta-...	OMIM:268800
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Abnormal QRS complex, Heart murmur, Cardiomegaly, Cardiac shunt, Abnorm...	ORPHA:860
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra...	ORPHA:747
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Recurrent pneumonia, Atrioventricular block, Right ve...	ORPHA:1329
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating hepatic transaminase concentration, Esophagitis, Hepatic steatosis, Elevated...	OMIM:615356
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Alg9-Cdg	Periportal fibrosis, Diarrhea, Vomiting, Gastroesophageal reflux, Tricuspid regurgitation, Hepati...	ORPHA:79328
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Pulmonary arterial hypertension, Weight loss	ORPHA:1164
Oculodentodigital Dysplasia	Abnormal cortical bone morphology, Hyperostosis, Cranial hyperostosis, Camptodactyly of finger	ORPHA:2710
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Osteoporosis, Recurrent fractures, Thin bony cortex, Hyperextensibility of the finger joints	OMIM:309583
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Williams-Beuren Syndrome	Gastroesophageal reflux, Recurrent otitis media, Portal hypertension, Mitral regurgitation, Supra...	OMIM:194050
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypomagnesemia, Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hepatic calcification	ORPHA:73224
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss...	ORPHA:103918
Lig4 Syndrome	Acute leukemia, Lymphoma, Pancytopenia, Leukocytosis, Cryptorchidism, Telangiectasia of the skin,...	ORPHA:99812
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Pancreatoblastoma	Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology	ORPHA:677
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Diarrhea, Chronic mucocutan...	OMIM:102700
Adult Acute Respiratory Distress Syndrome	Pneumonia, Vasculitis, Hypotension, Shock, Pancreatitis	ORPHA:70578
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Spontaneous...	OMIM:214500
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Splenomegaly, Hepatomegaly, Hydrocele testis	OMIM:605309
Hurler-Scheie Syndrome	Aortic regurgitation, Mitral regurgitation, Splenomegaly, Pulmonary arterial hypertension, Hepato...	OMIM:607015
Rothmund-Thomson Syndrome Type 2	Abnormal trabecular bone morphology, Osteopenia, Pathologic fracture, Synostosis involving bones ...	ORPHA:221016
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Vent...	ORPHA:280365
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Elevated circulating hepatic transaminase concentration, Abnormal abdomen m...	OMIM:619475
Glycosylphosphatidylinositol Biosynthesis Defect 11	Elevated circulating alkaline phosphatase concentration	OMIM:616025
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Finger symphalangism, Calcinosis	ORPHA:221008
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Gastroesophageal reflux, Aplasia of the thymus, Hypoplastic nipples, Pulmonary art...	OMIM:620186
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Extraadrenal pheochromocytoma, Sinus tachycardia, Congestive heart ...	ORPHA:29072
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Rickets, Hypomagnesemia, Exocrine pancreatic insuf...	OMIM:219800
Trisomy 10P	Gastroesophageal reflux, Absent gallbladder, Dysphagia	ORPHA:171929
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Elevated circulating alkaline phosphatase concentration, Left unicoronal synostosis	OMIM:614749
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypopro...	ORPHA:167
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Xq12-Q13.3 Duplication Syndrome	Low alkaline phosphatase, Elevated circulating creatine kinase concentration	ORPHA:314389
Meckel Syndrome	Accessory spleen, Cryptorchidism, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pan...	ORPHA:564
Liposarcoma	Sarcoma, Weight loss	ORPHA:69078
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Thymic Carcinoma	Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy	ORPHA:99868
Diarrhea 1, Secretory Chloride, Congenital	Secretory diarrhea, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia, Increased circu...	OMIM:214700
Liddle Syndrome	Hypokalemia	ORPHA:526
Cockayne Syndrome Type 2	Male hypogonadism, Cryptorchidism, Hepatomegaly, Conjunctivitis, Uveitis	ORPHA:90322
Holocarboxylase Synthetase Deficiency	Weight loss, Hyperammonemia, Thrombocytopenia	ORPHA:79242
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Lethargy, Limb tremor, Torticollis, Exaggerated ...	OMIM:608643
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hyperaldosteronism	OMIM:605635
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
Erythrokeratodermia Variabilis	Neoplasm of the skin, Weight loss	ORPHA:317
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Vascular Malformation, Primary Intraosseous	Elevated circulating alkaline phosphatase concentration	OMIM:606893
Nipah Virus Disease	Hypotension, Infectious encephalitis	ORPHA:99825
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, B-cell lymphoma, Increased proportion of t...	OMIM:616005
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F	OMIM:619769
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder	ORPHA:3186
Juvenile Sialidosis Type 2	Hepatomegaly, Hepatosplenomegaly, Visceromegaly	ORPHA:93399
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Congenital Muscular Dystrophy Due To Lmna Mutation	Arrhythmia, Cachexia, Congestive heart failure	ORPHA:157973
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Delayed ossification of carpal bones, Elevated circulating alkaline phosphatase concentration	OMIM:239300
Hyper-Igd Syndrome	Neutrophilia, Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Splenomegaly, ...	OMIM:260920
Waldenström Macroglobulinemia	Gingival bleeding, Vasculitis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrha...	ORPHA:33226
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Hamartoma of tongue, Absent gallbladder	OMIM:617925
Hirschsprung Disease	Failure to thrive in infancy, Neoplasm of the thyroid gland, Intestinal polyposis, Weight loss	ORPHA:388
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia, Constipation	OMIM:244450
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Infant Acute Respiratory Distress Syndrome	Pneumonia, Hypotension, Bradycardia, Tachycardia, Cardiac arrest	ORPHA:70587
Anaplastic Thyroid Carcinoma	Neoplasm of the skeletal system, Weight loss, Lymphadenopathy, Anaplastic thyroid carcinoma, Mali...	ORPHA:142
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Decr...	OMIM:230500
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Ascites, Osteomyel...	OMIM:306400
East Syndrome	Hypokalemia, Increased circulating renin level, Hyperaldosteronism, Hypomagnesemia	ORPHA:199343
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Xfe Progeroid Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Asci...	OMIM:610965
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Cystathioninemia, Vomiting, Decreased methylmalonyl-CoA mutase activity, Decreased m...	OMIM:277400
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hypertrophic cardiomyopathy, Decreased liver function, Diffuse hepatic steatosis	ORPHA:436271
Huntington Disease	Weight loss, Abnormal circulating cholesterol concentration, Decreased body mass index	ORPHA:399
Sialuria	Hepatomegaly, Hypoplastic nipples, Splenomegaly	OMIM:269921
Amish Lethal Microcephaly	Hepatomegaly	ORPHA:99742
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Elevated circulating C-reactive protein concentration, Vasculitis, Anemia, Weight loss	ORPHA:324964
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Skin rash, Pulmonary venous hypertension, Keratoconj...	ORPHA:79128
Huntington Disease-Like 2	Weight loss	OMIM:606438
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatomegaly, Recurrent aspiration pneumonia, Hepatic hemangioma, Elevated circulating hepatic tr...	ORPHA:73230
Adrenocortical Carcinoma	Palpitations, Lung adenocarcinoma, Adrenocortical carcinoma, Hypokalemia, Increased body weight, ...	ORPHA:1501
Campomelia, Cumming Type	Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas, Myelodysplasia	ORPHA:1318
Familial Tumoral Calcinosis	Hepatomegaly, Neoplasm of the skin, Skin rash, Splenomegaly	ORPHA:53715
Anal Fistula	Leukocytosis	ORPHA:228113
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Diarrhea, Congestive heart failure, Recurrent otitis media, Hepatosplenomega...	OMIM:309900
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatic steatosis, Polycystic ovaries, Hypertension, Hyp...	OMIM:151660
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Atrioventricular block, Complete heart block with narrow ...	ORPHA:1677
Opsismodysplasia	Hepatomegaly, Splenomegaly	ORPHA:2746
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Moynahan Syndrome	Cachexia	ORPHA:2574
Congenital Sialidosis Type 2	Abnormal EKG, Ascites, Hepatosplenomegaly, Petechiae, Telangiectasia, Hepatomegaly	ORPHA:93400
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Decreased liver function	OMIM:614863
Igg4-Related Aortitis	Elevated circulating C-reactive protein concentration, Hypereosinophilia, Weight loss	ORPHA:449400
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Elevated circulating alkaline phosphatase concentration	OMIM:615716
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Hypertrophic cardiomyopathy, Noncompaction cardiomyopathy, ...	ORPHA:3208
Immunodeficiency 31C	Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Lymphopenia, S...	OMIM:614162
Cog5-Cdg	Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Crypto...	ORPHA:263487
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia	OMIM:145001
Scrub Typhus	Hypotension, Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocarditis, Ante...	ORPHA:83317
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hyperammonemia, Elevated circulat...	OMIM:610505
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Pancreatic hypoplasia, Pulmonic stenosis, Biliary atresia	OMIM:600001
Multiple Sulfatase Deficiency	Hepatomegaly, Splenomegaly	ORPHA:585
Spastic Tetraplegia And Axial Hypotonia, Progressive	Ataxia, Exaggerated startle response	OMIM:618598
Weill-Marchesani Syndrome 1	Joint stiffness, Thin bony cortex	OMIM:277600
Gitelman Syndrome	Hypermagnesemia, Hypomagnesemia, Gout, Hypocalcemia, Hypokalemia, Primary hyperaldosteronism, Neo...	ORPHA:358
Inflammatory Bowel Disease 11	Hematochezia, Weight loss	OMIM:191390
Spondyloocular Syndrome	Osteopenia, Femur fracture, Thin bony cortex	OMIM:605822
Graves Disease	Weight loss, Abnormal abdomen morphology, Congestive heart failure	OMIM:275000
Tetrasomy 9P	Absent gallbladder, Glue ear, Cryptorchidism, Biliary atresia, Myositis, Pilomatrixoma, Pulmonary...	ORPHA:3310
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Elevated circulatin...	ORPHA:93672
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Gastroesophageal reflux, Periodontitis, Enlarged platelet dense granules, Re...	OMIM:608233
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response	OMIM:620114
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hypertrophic cardiomyopathy, Decreased liver function, Increased hepatocellular lip...	OMIM:220110
Familial Adenomatous Polyposis 1	Osteoma, Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duode...	OMIM:175100
Ring Chromosome 13 Syndrome	Retinoblastoma, Hypoplasia of the gallbladder	ORPHA:96176
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus	OMIM:619480
Mosaic Trisomy 9	Asplenia, Cryptorchidism, Abnormal liver lobulation	ORPHA:99776
Cockayne Syndrome Type 1	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Cryptorchidism, Incre...	ORPHA:90321
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Xylt1-Cdg	Hepatomegaly, Acne	ORPHA:370930
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Difficulty walking, Exaggerated startle response	ORPHA:320406
Gardner Syndrome	Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ...	ORPHA:79665
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Gait ataxia, Dysmetria, Tremor, Exaggerated startle response	OMIM:618056
Gaucher Disease, Type Iiic	Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Hepatomegaly	OMIM:231005
Isolated Complex I Deficiency	Hepatomegaly, Vomiting, Increased serum pyruvate, Hypertrophic cardiomyopathy	ORPHA:2609
Glucose-Galactose Malabsorption	Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia	ORPHA:35710
Gaucher Disease, Type Ii	Gastroesophageal reflux, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Recurrent aspirati...	OMIM:230900
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex	OMIM:612731
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci...	OMIM:615751
Thymoma	Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis	ORPHA:99867
Cap Polyposis	Hematochezia, Weight loss, Colorectal polyposis	ORPHA:160148
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of th...	ORPHA:464329
Chronic Beryllium Disease	Weight loss, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells	ORPHA:133
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ...	ORPHA:97214
Apparent Mineralocorticoid Excess	Hypokalemia, Left ventricular hypertrophy, Abnormality of circulating cortisol level, Decreased c...	ORPHA:320
Mitochondrial Dna-Associated Leigh Syndrome	Hepatic failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormality of Krebs cycle ...	ORPHA:255210
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Aminoaciduria, Elevated circulating creatinine concentration, Reduced hematocr...	ORPHA:91500
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Shwachman-Diamond Syndrome 2	Normocytic anemia, Diarrhea, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutrope...	OMIM:617941
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Multiple Sulfatase Deficiency	Hepatomegaly, Splenomegaly	OMIM:272200
Hydroxykynureninuria	Tachycardia, Hypotension, Stomatitis	ORPHA:79155
Developmental And Epileptic Encephalopathy 95	Multiple joint contractures, Elevated circulating alkaline phosphatase concentration, Joint hyper...	OMIM:618143
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Tachycardia, Intracranial hemorrhag...	ORPHA:449285
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Increased circulating lactate dehydrogenase concentration, Hypertrophic cardiomyopath...	ORPHA:365
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Gastroesophageal reflux, Hyperbilirubinemia, Cryptorchidism, Prolonged neonatal jaundice, Hyperte...	OMIM:210710
Gaucher Disease, Perinatal Lethal	Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Petechiae, Cardiomegaly, Hepatomegaly...	OMIM:608013
Cat Eye Syndrome	Pulmonic stenosis, Biliary atresia	OMIM:115470
Zttk Syndrome	Aortic regurgitation, Chronic diarrhea, Absent gallbladder	OMIM:617140
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration, Hepatic cysts, Pancreatic cysts, Polycystic liver ...	ORPHA:730
Cutaneous Mastocytoma	Telangiectasia of the skin, Hypotension, Maculopapular exanthema, Telangiectasia macularis erupti...	ORPHA:79455
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Tricuspid regurgitation, Splenic cyst, Cryptorchidism, Cardiomegal...	OMIM:620371
Frank-Ter Haar Syndrome	Cortical irregularity, Osteopenia, Camptodactyly, Osteoporosis	OMIM:249420
Oculocerebrorenal Syndrome Of Lowe	Osteomalacia, Hyperaldosteronism, Joint stiffness, Joint hypermobility, Hyponatremia, Hypokalemia...	ORPHA:534
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia	OMIM:602722
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Geleophysic Dysplasia 2	Aortic valve stenosis, Mitral regurgitation, Mitral stenosis, Pulmonary arterial hypertension, He...	OMIM:614185
Alexander Disease Type I	Cachexia, Failure to thrive	ORPHA:363717
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Pulmonary e...	ORPHA:394
Osteogenesis Imperfecta	Osteopenia, Fractures of the long bones, Abnormal cortical bone morphology, Increased susceptibil...	ORPHA:666
Autosomal Dominant Epidermolytic Ichthyosis	Conjunctival hamartoma, Weight loss	ORPHA:312
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Splenomegaly	OMIM:602557
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol...	ORPHA:2330
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l...	ORPHA:231632
Riboflavin Transporter Deficiency	Cachexia, Hypertension	ORPHA:97229
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Familial Mediterranean Fever	Vasculitis, Diarrhea, Erysipelas, Acute hepatic failure, Ascites, Leukocytosis, Splenomegaly, Ski...	ORPHA:342
Analbuminemia	Hypotension	OMIM:616000
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cortiso...	ORPHA:231625
Gm1 Gangliosidosis	Failure to thrive, Cardiomyopathy, Congestive heart failure, Hepatosplenomegaly, Splenomegaly, De...	ORPHA:354
Aspartylglucosaminuria	Joint stiffness, Abnormal cortical bone morphology, Splenomegaly, Arthritis, Hepatomegaly	ORPHA:93
Leukodystrophy, Hypomyelinating, 13	Ataxia, Exaggerated startle response	OMIM:616881
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Left ventricular hypertrophy, Primary hyperaldosteronism, Decreased circulating reni...	OMIM:615474
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Cardiomegaly, Hepatomegaly, Right ventricular hypertrophy, Systolic hear...	ORPHA:555874
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Geleophysic Dysplasia 3	Hepatomegaly, Pneumonia, Mitral regurgitation	OMIM:617809
Doors Syndrome	Thrombocytosis	ORPHA:79500
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Weill-Marchesani Syndrome 2	Elbow flexion contracture, Joint stiffness, Thin bony cortex, Flexion contracture of toe	OMIM:608328
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype...	ORPHA:769
Pmm2-Cdg	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Vomit...	ORPHA:79318
Proteasome-Associated Autoinflammatory Syndrome 1	Recurrent otitis media, Microcytic anemia, Chronic constipation, Arrhythmia, Erythema nodosum, El...	OMIM:256040
Wolf-Hirschhorn Syndrome	Abdominal situs inversus, Abnormality of the gallbladder, Cryptorchidism, Hemangioma, Chronic oti...	ORPHA:280
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Hepatosplenomegaly,...	OMIM:602782
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l...	ORPHA:231580
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Familial Hyperaldosteronism Type I	Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism	ORPHA:403
Giant Cell Arteritis	Vasculitis, Hepatic failure, Epistaxis, Mediastinal lymphadenopathy, Cerebral ischemia, Arrhythmi...	ORPHA:397
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss, Lymphadenopathy	ORPHA:411703
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Decreased fertility, Increased pulmonary vascular resistance, Hepatome...	ORPHA:60025
Familial Hyperaldosteronism Type Iii	Hypokalemia, Left ventricular hypertrophy, Glucocortocoid-insensitive primary hyperaldosteronism	ORPHA:251274
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Chronic diarrhea, Splenomegaly, Aplasia of the sweat glands	OMIM:612132
Familial Hyperaldosteronism Type Ii	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism	ORPHA:404
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Multiple Endocrine Neoplasia Type 1	Pituitary prolactin cell adenoma, Shortened QT interval, Pituitary thyrotropic cell adenoma, Pitu...	ORPHA:652
Blau Syndrome	Posterior uveitis, Keratitis, Xerostomia, Abnormality of the liver, Large vessel vasculitis, Clea...	ORPHA:90340
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology, Weight loss	ORPHA:3165
Mcdonough Syndrome	Cachexia	ORPHA:2471
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Thin bony cortex	OMIM:619727
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Broad-based gait, Dystonia, Ataxia, Exaggerated startle response	ORPHA:438216
Parkinson Disease 4, Autosomal Dominant	Weight loss, Orthostatic hypotension	OMIM:605543
Idiopathic Bronchiectasis	Cachexia, Myocardial infarction	ORPHA:60033
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hyperaldosteronism, Hypomagnesemia	OMIM:612780
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Neurooculorenal Syndrome	Decreased circulating cortisol level, Conjugated hyperbilirubinemia, Recurrent hypoglycemia	OMIM:620305
Beckwith-Wiedemann Syndrome	Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal pancreas morp...	ORPHA:116
Dermatomyositis	Vasculitis, Abnormal eosinophil morphology, Elevated circulating hepatic transaminase concentrati...	ORPHA:221
Bartter Syndrome, Type 3	Hypokalemia, Hyperchloriduria, Hyperaldosteronism, Increased circulating renin level	OMIM:607364
X-Linked Creatine Transporter Deficiency	Cachexia, Abnormal circulating creatine concentration	ORPHA:52503
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Hematochezia, Intestinal bleeding, Gastrointestinal hemorrhage, Melena, Subcutan...	ORPHA:79076
Infant Botulism	Hypotension, Keratoconjunctivitis sicca, Cardiac arrest, Hypertension, Chronic otitis media	ORPHA:178478
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia, Pancreatitis	OMIM:145981
Mercury Poisoning	Hypertension, Tachycardia, Hypotension, Interstitial pneumonitis	ORPHA:330021
Monosomy 13Q34	Hypercalcemia, Hepatic steatosis	ORPHA:96168
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Hyperaldosteronism, Hyperinsulinemia, Recurrent i...	ORPHA:508
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Slender build, Reduced tissue thymidine phosphor...	OMIM:603041
Christianson Syndrome	Cachexia	ORPHA:85278
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Weight loss, Paraganglioma	ORPHA:97286
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia, Pancreatitis	OMIM:145980
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Distal Renal Tubular Acidosis	Aminoaciduria, Hemolytic anemia, Hypokalemia	ORPHA:18
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Cryptorchidism, Nephroblastoma, Adrenocortical carcinoma,...	OMIM:130650
Glossopharyngeal Neuralgia	Schwannoma, Neoplasm, Syncope, Weight loss, Bradycardia, Jaw claudication	ORPHA:221098
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Smith-Lemli-Opitz Syndrome	Abnormality of the gallbladder, Facial capillary hemangioma, Elevated circulating 7-dehydrocholes...	ORPHA:818
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypocalcemia	ORPHA:2237
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Plague	Inflammation of the large intestine, Diarrhea, Lymphadenitis, Arrhythmia, Acute infectious pneumo...	ORPHA:707
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Ileus, Splenomegaly, Arrhythmia, Constipation, Hepatomegaly	ORPHA:163746
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:36426
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastroesophageal reflux, Gastroparesis, Transient ischemic attack, Ischemic stroke, Absent gallbl...	ORPHA:500150
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Hyp...	ORPHA:183
Heterotaxy, Visceral, 1, X-Linked	Abdominal situs inversus, Polysplenia, Mitral stenosis, Biliary atresia, Cardiomegaly, Hepatomega...	OMIM:306955
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Inability to walk, Exaggerated startle response	OMIM:617864
Meningococcal Meningitis	Shock, Hypotension, Skin rash, Infectious encephalitis	ORPHA:33475
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density	OMIM:620558
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Boudin-Mortier Syndrome	Elevated alkaline phosphatase of bone origin, Joint hypermobility	OMIM:619543
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Ischemic stroke, Peritonitis, Telangiectasia of the skin,...	ORPHA:679
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Renpenning Syndrome	Cachexia	ORPHA:3242
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto...	ORPHA:900
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Glucose intolerance, Impaired glucose tolerance	OMIM:219090
Combined Oxidative Phosphorylation Deficiency 58	Hyperprolinemia, Hyperalaninemia, Elevated circulating alkaline phosphatase concentration	OMIM:620451
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Stiff-Person Syndrome	Opisthotonus, Exaggerated startle response	OMIM:184850
Gray Platelet Syndrome	Epistaxis, Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia	OMIM:139090
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Inhalational Anthrax	Hypotension, Internal hemorrhage	ORPHA:247257
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Riddle Syndrome	Telangiectasia, Conjunctival telangiectasia, Intraventricular hemorrhage, Generalized lymphadenop...	ORPHA:420741
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:537
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Hypochlo...	ORPHA:90794
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hepatic steatosis, Leukocytosis, Azotemia	OMIM:619321
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hypotension	ORPHA:91354
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Joint hypermobility	OMIM:620330
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Splenomegaly, Iridoc...	OMIM:181000
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Uterine neoplasm, Failure to thrive, Vaginal neoplasm, Diffuse leiomyomatosis, Vulvar neoplasm, E...	ORPHA:1018
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Hypoplastic nipples, Neoplasm, Cardiomyopathy	ORPHA:480880
Tay-Sachs Disease	Laryngeal dystonia, Inability to walk, Tremor, Dysmetria, Gait disturbance, Exaggerated startle r...	ORPHA:845
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg...	ORPHA:576
Developmental And Epileptic Encephalopathy 80	Elevated circulating alkaline phosphatase concentration	OMIM:618580
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Tricuspid regurgitation, Mitral regurgit...	OMIM:619127
Distal Deletion 12Q	Congenital hypertrophy of left ventricle, Annular pancreas, Pituitary adenoma, Biliary atresia, U...	ORPHA:96149
Down Syndrome	Polycythemia, Type II diabetes mellitus, Acute megakaryocytic leukemia, Abnormality of the lympha...	ORPHA:870
Bannayan-Riley-Ruvalcaba Syndrome	Uterine neoplasm, Lymphoma, Capillary hemangioma, Meningioma, Thyroid carcinoma, Intestinal polyp...	ORPHA:109
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Hyperaldosteronism	ORPHA:369929
Niemann-Pick Disease Type C	Hepatic failure, Fetal ascites, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of...	ORPHA:646
Oculopharyngodistal Myopathy 1	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Elevated cir...	OMIM:164310
Hyperphosphatasia-Intellectual Disability Syndrome	Elevated circulating alkaline phosphatase concentration	ORPHA:247262
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration, Pancreatitis	ORPHA:93126
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:613090
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev...	OMIM:261740
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Leukocytosis, Anemia, Neutrophilia, Hepatomegaly	ORPHA:99843
Pyomyositis	Testicular teratoma, Weight loss, Sudden cardiac death, Leukocytosis	ORPHA:764
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Anemia, Pulmonary arterial hypertension, Thrombocytopenia, Hepatomegaly	ORPHA:77261
Yao Syndrome	Weight loss, Pericarditis	OMIM:617321
Acute Radiation Syndrome	Telangiectasia, Hypotension, Inflammatory abnormality of the skin, Interstitial pneumonitis	ORPHA:454831
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Serotonin Syndrome	Hypotension, Tachycardia, Hepatic failure, Hypertension	ORPHA:43116
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension	ORPHA:35708
Chromosome 5Q12 Deletion Syndrome	Hypotension	OMIM:615668
Peters-Plus Syndrome	Bilobate gallbladder, Cryptorchidism, Pulmonic stenosis, Biliary tract abnormality	OMIM:261540
African Trypanosomiasis	Myelitis, Keratitis, Conjunctivitis, Third degree atrioventricular block, Congestive heart failur...	ORPHA:3385
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Weight loss, Lymphadenopathy	ORPHA:85408
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mitral regurgitation, Dilated cardiomyopathy, Weight loss, Mildly elevated creatine kinase	OMIM:607459
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Ventricular arrhythmia, Prolonged QRS complex, Ischemic...	ORPHA:90068
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Bullous Pemphigoid	Weight loss	ORPHA:703
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Elevated circulating aspartate aminotransferase concentration, Ele...	OMIM:280000
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypoglycemia, Decreased circulating renin level, Hyponatremia, Decreased circulating cortisol lev...	OMIM:201750
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating cortisol level, Decreased circulating renin level	ORPHA:90795
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia	OMIM:104200
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thickened cortex of long bones	ORPHA:488434
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Absent or minimally ossified vertebral bodies, Abnormal pelvis bone ossification, Congenital hepa...	ORPHA:93271
Bartter Syndrome Type 4	Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulati...	ORPHA:89938
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Elevated circulating alkaline phosphatase concentration	OMIM:614207
Tetrasomy 12P	Cachexia	ORPHA:884
Multiple Endocrine Neoplasia, Type I	Insulinoma, Pancreatic islet cell adenoma, Hypercalcemia, Increased circulating cortisol level	OMIM:131100
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Stuve-Wiedemann Syndrome 1	Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Thickened cortex of lon...	OMIM:601559
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Erythroid hyperplasia, Abnormal circulating enzyme concentration or acti...	ORPHA:95159
Choreoacanthocytosis	Dilated cardiomyopathy, Increased circulating lactate dehydrogenase concentration, Elevated circu...	ORPHA:2388
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Gastroesophageal reflux	OMIM:300896
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Cardiomegaly, Cryptorchidism	ORPHA:96191
Malt Lymphoma	B-cell lymphoma, Weight loss, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy	ORPHA:52417
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem...	OMIM:241200
Hermansky-Pudlak Syndrome	Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy, Squamous cell carcinoma of the skin, Weig...	ORPHA:79430
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating cortisol level, Increased circulating corticosterone level, De...	ORPHA:90793
Rat-Bite Fever	Lymphadenitis, Abdominal aseptic abscess, Anemia, Weight loss, Pancreatitis, Myocarditis, Pericar...	ORPHA:31205
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Spondyloepimetaphyseal Dysplasia, X-Linked	Limited elbow extension, Abnormality of alkaline phosphatase level, Delayed ossification of carpa...	OMIM:300106
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Post-Traumatic Pituitary Deficiency	Hypotension	ORPHA:95619
Renal Tubular Dysgenesis	Hypotension	OMIM:267430
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Abnormal lymph node morpholog...	ORPHA:99889
Primary Hyperoxaluria Type 1	Hyperoxaluria, Abnormal circulating enzyme concentration, Calcinosis	ORPHA:93598
Perry Syndrome	Weight loss	OMIM:168605
Scorpion Envenomation	Glycosuria, Hyperglycemia, Hypokalemia, Increased circulating creatine kinase MB isoform, Increas...	ORPHA:466677
Behçet Disease	Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische...	ORPHA:117
8P23.1 Microdeletion Syndrome	Hypertrophic cardiomyopathy, Obesity, Weight loss	ORPHA:251071
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level	OMIM:202010
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Pulmonary arterial hypertension, Cryptorchidism	OMIM:620025
Oromandibular Dystonia	Weight loss	ORPHA:93958
Renal Nutcracker Syndrome	Syncope, Weight loss, Orthostatic hypotension, Anemia, Tachycardia	ORPHA:71273
Infantile Krabbe Disease	Cachexia, Abnormal circulating enzyme concentration or activity, Failure to thrive, Abnormal hear...	ORPHA:206436
Fatal Familial Insomnia	Weight loss	OMIM:600072
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Failure to thrive, Weight loss, Reduced pancreatic beta cells, Hypovolemia	ORPHA:99885
Multiple Endocrine Neoplasia Type 2	Neoplasm of the liver, Hypercalcemia, Joint hypermobility	ORPHA:653
Poliomyelitis	Hypovolemic shock, Hypotension, Myelitis, Infectious encephalitis, Hypertension	ORPHA:2912
Rett Syndrome	Cachexia, Prolonged QTc interval, Abnormal T-wave	OMIM:312750
Multiple Mitochondrial Dysfunctions Syndrome 7	Lethargy, Dystonia, Exaggerated startle response	OMIM:620423
Nelson Syndrome	Hypokalemia, Type II diabetes mellitus, Increased circulating cortisol level, Secondary hypercort...	ORPHA:199244
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Increased circulating cortisol level, Hypoglycemia	ORPHA:786
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Elevated circulating alkaline phosphatase concentration	OMIM:618548
Camurati-Engelmann Disease	Hypertrophic cardiomyopathy, Slender build, Leukopenia, Splenomegaly, Elevated circulating aldola...	ORPHA:1328
Short Syndrome	Weight loss	ORPHA:3163
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Basal cell carcinoma, Melanoma, Cachexia, Squamous cell carcinoma of the skin	ORPHA:220295
Pheochromocytoma	Hypercalcemia	OMIM:171300
19Q13.11 Microdeletion Syndrome	Cachexia, Failure to thrive	ORPHA:217346
Pde4D Haploinsufficiency Syndrome	Hypotension	ORPHA:439822
Charge Syndrome	Hypocalcemia	OMIM:214800
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Hamartoma, Splenomegaly	OMIM:617088
Erdheim-Chester Disease	Anemia, Congestive heart failure, Weight loss, Retroperitoneal fibrosis	ORPHA:35687
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Sclerosis of skull base, Thickened cortex of long bones, Hepatob...	OMIM:269150
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Hennekam-Beemer Syndrome	Pneumonia, Hypotension, Arrhythmia, Telangiectasia of the skin	ORPHA:2135
Nijmegen Breakage Syndrome	Acute leukemia, Glioma, Lymphoma, Neoplasm, Autoimmune hemolytic anemia, B-cell lymphoma, Cachexi...	ORPHA:647
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Weight loss, Granulomatosis, Retinal hemorrhage, Localized pulmonary...	OMIM:608710
Hellp Syndrome	Hypotension, Elevated circulating hepatic transaminase concentration, Internal hemorrhage, Cerebr...	ORPHA:244242
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Obesity	ORPHA:813
Schwartz-Jampel Syndrome	Odontogenic neoplasm, Elevated circulating creatine kinase concentration, Decreased body weight, ...	ORPHA:800
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Iron deficiency anemia, Weight loss	ORPHA:309031
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:602522
Pemphigus Vulgaris	Weight loss	ORPHA:704
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Generalized Arterial Calcification Of Infancy	Osteomalacia, Hypophosphatemic rickets, Pancreatic calcification, Abnormal calcification of the c...	ORPHA:51608
Nocardiosis	Lymphadenitis, Liver abscess, Peritonitis, Weight loss, Pericarditis	ORPHA:31204
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Palpitations, Hypokalemia, Weight loss, Supraventricular a...	ORPHA:91347
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Exaggerated startle response	ORPHA:521426
Acrodermatitis Enteropathica	Weight loss, Failure to thrive	ORPHA:37
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent pneumonia, Hypotension, Recurrent otitis media, Psoriasiform dermatitis, Recurrent sinu...	ORPHA:293978
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Weight loss, Small for gestational age	ORPHA:424
Sotos Syndrome	Ankle flexion contracture, Hip contracture, Joint hypermobility, Bilateral camptodactyly, Prolong...	ORPHA:821
Cockayne Syndrome	Elevated circulating hepatic transaminase concentration, Retinal hemorrhage, Splenomegaly, Hyperu...	ORPHA:191
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Fanconi Anemia	Hypertrophic cardiomyopathy, Abnormality of the liver, Neoplasm, Leukopenia, Weight loss, Thrombo...	ORPHA:84
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
Wolf-Hirschhorn Syndrome	Accessory spleen, Hemangioma, Cryptorchidism, Biliary tract abnormality	OMIM:194190
Hereditary Late-Onset Parkinson Disease	Orthostatic hypotension due to autonomic dysfunction, Weight loss	ORPHA:411602
Leukemia, Chronic Myeloid	Reduced leukocyte alkaline phosphatase	OMIM:608232
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
X-Linked Intellectual Disability, Cabezas Type	Cachexia, Obesity	ORPHA:85293
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Gm1 Gangliosidosis Type 1	Exaggerated startle response	ORPHA:79255
Alexander Disease	Hypertension, Hypotension, Sudden cardiac death, Infectious encephalitis	ORPHA:58
Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:803
Systemic Lupus Erythematosus	Leukopenia, Hypertension, Weight loss, Raynaud phenomenon, Lymphadenopathy, Thrombocytopenia, Hem...	ORPHA:536
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia	OMIM:618426
Proteus Syndrome	Rib exostoses, Exostosis of the external auditory canal, Cachexia, Visceral angiomatosis, Neoplas...	ORPHA:744
Proximal Renal Tubular Acidosis	Aminoaciduria, Hypokalemia, Glycosuria, Bicarbonaturia	ORPHA:47159
Igg4-Related Dacryoadenitis And Sialadenitis	Weight loss, Lymphadenopathy, Thrombocytopenia, Retroperitoneal fibrosis	ORPHA:79078
Pituitary Apoplexy	Hypotension, Hypertension	ORPHA:95613
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Aortic regurgitation, Transient ischemic attack, Left ventricular systolic...	ORPHA:740
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Hypertension	ORPHA:93256
Reactive Arthritis	Aortic regurgitation, Weight loss, Pericarditis	ORPHA:29207
Non-Functioning Pituitary Adenoma	Hypotension	ORPHA:91349
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cavernous hemangioma of the face, Cryptorchidism, Midface capillary hemangioma,...	OMIM:268300
Goodpasture Syndrome	Anemia, Pulmonary hemorrhage, Weight loss, Increased blood urea nitrogen	OMIM:233450
Chronic Graft Versus Host Disease	Ascites, Pancytopenia, Elevated circulating hepatic transaminase concentration, Weight loss	ORPHA:99921
Trisomy 18	Cachexia	ORPHA:3380
Prolactinoma	Hypotension	ORPHA:2965
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
17Q11 Microdeletion Syndrome	Osteoporosis, Osteopenia, Osteolysis, Thickened cortex of long bones	ORPHA:97685
Congenital Total Pulmonary Venous Return Anomaly	Right ventricular failure, Tricuspid regurgitation, Mitral regurgitation, Cardiomegaly, Pulmonary...	ORPHA:99125
Congenital Fiber-Type Disproportion Myopathy	Weight loss, Failure to thrive	ORPHA:2020
Seckel Syndrome	Cachexia	ORPHA:808
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Marfan Syndrome	Aortic regurgitation, Congestive heart failure, Slender build, Mitral regurgitation, Cachexia, Ve...	ORPHA:558
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Dystonia, Inability to walk, Exaggerated startle response	ORPHA:438213
Stickler Syndrome	Slender build, Arrhythmia, Cachexia	ORPHA:828
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522
Non-Acquired Panhypopituitarism	Hypotension	ORPHA:90695
Norrie Disease	Neoplasm of the eye, Cachexia, Failure to thrive, Vascular neoplasm	ORPHA:649
Vascular Ehlers-Danlos Syndrome	Hypokalemia, Cystocele	ORPHA:286
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypotension	ORPHA:95494

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 Abcb4

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 Abcb4.

No publications found that use IMPC mice or data for Abcb4.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Abcb4^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Abcb4^em1(IMPC)H	Exon Deletion	Mice
Abcb4^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Abcb4^em2(IMPC)H	Exon Deletion	Mice

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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