Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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 alkaline phosphatase level	Abcb4^em1(IMPC)H	HOM	Early adult	2.80×10^-45
increased circulating amylase level	Abcb4^em1(IMPC)H	HOM	Early adult	3.35×10^-05
decreased circulating HDL cholesterol level	Abcb4^em1(IMPC)H	HOM	Early adult	2.50×10^-05
increased neutrophil cell number	Abcb4^em1(IMPC)H	HOM	Early adult	1.69×10^-13
increased leukocyte cell number	Abcb4^em1(IMPC)H	HOM	Early adult	6.69×10^-08
increased circulating alanine transaminase level	Abcb4^em1(IMPC)H	HOM	Early adult	0.00
increased basophil cell number	Abcb4^em1(IMPC)H	HOM	Early adult	5.72×10^-05
decreased mean corpuscular hemoglobin concentration	Abcb4^em1(IMPC)H	HOM	Early adult	1.00×10^-05
increased circulating creatinine level	Abcb4^em1(IMPC)H	HOM	Early adult	1.17×10^-05
increased circulating bilirubin level	Abcb4^em1(IMPC)H	HOM	Early adult	7.08×10^-06
increased spleen weight	Abcb4^em1(IMPC)H	HOM	Early adult	2.02×10^-13
thrombocytosis	Abcb4^em1(IMPC)H	HOM	Early adult	3.13×10^-09
decreased mean corpuscular hemoglobin	Abcb4^em1(IMPC)H	HOM	Early adult	1.58×10^-13
increased red blood cell distribution width	Abcb4^em1(IMPC)H	HOM	Early adult	1.27×10^-06
increased monocyte cell number	Abcb4^em1(IMPC)H	HOM	Early adult	4.54×10^-06
decreased hemoglobin content	Abcb4^em1(IMPC)H	HOM	Early adult	1.36×10^-05
decreased locomotor activity	Abcb4^tm1Bor	HOM	Early adult	9.74×10^-06
increased circulating potassium level	Abcb4^em1(IMPC)H	HOM	Early adult	1.03×10^-05
increased circulating aspartate transaminase level	Abcb4^em1(IMPC)H	HOM	Early adult	0.00
increased startle reflex	Abcb4^tm1Bor	HOM	Early adult	7.15×10^-15
decreased circulating glucose level	Abcb4^em1(IMPC)H	HOM	Early adult	3.74×10^-06
increased lymphocyte cell number	Abcb4^em1(IMPC)H	HOM	Early adult	8.42×10^-06
decreased mean corpuscular volume	Abcb4^em1(IMPC)H	HOM	Early adult	8.11×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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 (2009 diseases)

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

Disease	Matching phenotypes	Source
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Increased serum bile acid concentration during pr...	OMIM:614972
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Skin rash, Abnormality of the pancreas, Jaundice, Abnormal pineal ...	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	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula...	OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Diarrhea, In...	OMIM:601847
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta...	ORPHA:53035
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Di...	OMIM:235555
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub...	OMIM:211600
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau...	ORPHA:1414
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis, Iron deficiency anemia, Increased erythrocyte prot...	OMIM:300752
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality	OMIM:237500
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Chronic d...	OMIM:619484
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n...	ORPHA:79234
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ...	OMIM:147480
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Increased serum bile acid concentration during pr...	OMIM:614972
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Hyperbiliverdinemia	Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis	OMIM:614156
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Autosomal Erythropoietic Protoporphyria	Eczema, Microcytic anemia, Abnormal circulating porphyrin concentration, Decreased liver function...	ORPHA:79278
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Hemochromatosis, Neonatal	Abnormal bleeding, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necr...	OMIM:231100
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,...	ORPHA:79301
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I...	ORPHA:3111
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Chronic diarrhea, Acholic stools, Cholestatic liver dise...	ORPHA:65682
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas...	OMIM:616860
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Ele...	OMIM:232800
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop...	OMIM:215600
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc...	OMIM:224100
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma,...	OMIM:613490
Cholestasis, Progressive Familial Intrahepatic, 4	Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure	OMIM:615878
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia	OMIM:129850
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:79235
Malaria	Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Diarrhea, Cirrhosis, Hypercholesterol...	ORPHA:75234
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,...	ORPHA:79319
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Congenital hepatic fibrosis, ...	ORPHA:446
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In...	ORPHA:210136
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Hypocalcemia	ORPHA:172
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Congestive heart failur...	OMIM:602390
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun...	OMIM:619256
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea...	ORPHA:2137
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, ...	ORPHA:30391
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia, Jaundice	OMIM:237450
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Crigler-Najjar Syndrome, Type Ii	Jaundice, Unconjugated hyperbilirubinemia	OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia, Jaundice	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho...	OMIM:603358
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Cholestatic liver disease	OMIM:602114
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Eczema, Cholelithiasis, Hepatic failure	OMIM:177000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis, C...	ORPHA:369
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hypophosphatemia	OMIM:619073
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic fa...	ORPHA:186
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Jaundi...	OMIM:194380
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:614887
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassium conce...	ORPHA:3202
Crigler-Najjar Syndrome, Type I	Jaundice, Unconjugated hyperbilirubinemia	OMIM:218800
Primary Hepatic Neuroendocrine Carcinoma	Intrahepatic cholestasis with episodic jaundice, Elevated carcinoembryonic antigen level, Elevate...	ORPHA:100085
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva...	OMIM:611881
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia	OMIM:618660
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl...	OMIM:604416
Cadds	Elevated hepatic transaminase, Cholestasis, Cholangitis, Increased circulating very long-chain fa...	ORPHA:369942
Immunodeficiency 56	Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori...	OMIM:615207
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased total bilirubin	ORPHA:890
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia	OMIM:619398
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Budd-Chiari Syndrome	Budd-Chiari syndrome, Cirrhosis, Hepatocellular carcinoma	OMIM:600880
Galactose Mutarotase Deficiency	Abnormal circulating enzyme concentration or activity, Hepatomegaly, Cholestasis, Hypergalactosem...	ORPHA:570422
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int...	OMIM:617093
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:232400
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Oste...	OMIM:606069
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
North American Indian Childhood Cirrhosis	Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice	OMIM:604901
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia	OMIM:143500
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	ORPHA:90003
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ...	ORPHA:131
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,...	ORPHA:2924
Mirizzi Syndrome	Elevated hepatic transaminase, Tachycardia, Nausea, Pancreatitis, Jaundice, Elevated circulating ...	ORPHA:521219
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep...	OMIM:619685
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative...	OMIM:619463
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ...	ORPHA:158057
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Dubin-Johnson Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ...	ORPHA:234
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Pustule, Recurrent tonsillitis, Hyperkalemia, Atopic dermatitis, Hyp...	ORPHA:171876
Enteric Anendocrinosis	Diarrhea, Cholestatic liver disease, Vomiting, Portal hypertension	ORPHA:83620
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Patent ductus arteriosus, Biliary cirrhosis, Cholestasis, ...	OMIM:267010
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Raynaud phe...	OMIM:613471
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce...	OMIM:614204
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Hepatic failure, Cirrhosis, Portal hypertension	OMIM:210050
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus...	ORPHA:210110
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Maculo...	ORPHA:822
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat...	ORPHA:367
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration	ORPHA:209981
Galactosemia I	Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, Di...	OMIM:230400
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating aspartate aminotra...	OMIM:614921
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Incre...	OMIM:174050
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Howell-Jolly bo...	OMIM:613759
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	ORPHA:79230
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly	OMIM:618955
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Stomatitis, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma	ORPHA:438274
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Osteosclerotic Metaphyseal Dysplasia	Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Clavicul...	OMIM:615198
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr...	OMIM:619652
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Increased ...	OMIM:300635
Transaldolase Deficiency	Thrombocytopenia, Telangiectasia, Hepatosplenomegaly, Abnormal circulating glutamine concentratio...	ORPHA:101028
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Cholangiocarcinoma, Susceptibility To	Cholangiocarcinoma	OMIM:615619
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
Ppoma	Hepatomegaly, Intermittent jaundice, Adrenocortical adenoma, Constipation, Intestinal carcinoid, ...	ORPHA:97278
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Cardiomegaly, In...	ORPHA:465508
Pancreatic Colipase Deficiency	Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Exocrine pancreatic insuffic...	ORPHA:309108
Cholestasis, Progressive Familial Intrahepatic, 5	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	OMIM:617049
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Prolonged prothrombin time, Hypoalbuminemia, Macrovesicular hepati...	OMIM:618329
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit...	OMIM:209920
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Nodular Regenerative Hyperplasia Of The Liver	Portal hypertension, Abnormality of the hepatic vasculature	ORPHA:48372
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia	Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate...	OMIM:310490
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	OMIM:109720
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi...	OMIM:301045
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, ...	OMIM:614034
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Increased circulating ferritin concent...	OMIM:235200
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczema	OMIM:176090
Porphyria Cutanea Tarda	Reduced uroporphyrinogen decarboxylase activity, Cirrhosis, Hepatocellular carcinoma	OMIM:176100
Paget Disease Of Bone 4	Elevated circulating alkaline phosphatase concentration, Osteolysis	OMIM:606263
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Abnormal CD4:CD8 ratio, Autoimmu...	ORPHA:572
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c...	OMIM:600081
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemi...	ORPHA:171
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Vomiting, Hypergalac...	OMIM:230350
Carcinoid Syndrome	Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Hepatic necros...	ORPHA:100093
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Diarrhea, Steatorrhea, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Vomiting, Hepa...	OMIM:602579
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Hepatic f...	OMIM:617341
Grfoma	Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Adrenocortical ade...	ORPHA:97261
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chro...	OMIM:619858
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c...	OMIM:605911
Glycogen Storage Disease Iv	Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Ascites, Cirrhosis, Hepatic failure	OMIM:232500
Pseudopseudohypoparathyroidism	Ectopic ossification, Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Adrenocortical adenoma, Constipation, Ascites, Subcutaneous ...	ORPHA:97283
Adams-Oliver Syndrome 6	Splenomegaly, Tricuspid regurgitation, Hepatic fibrosis, Portal hypertension	OMIM:616589
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Van Buchem Disease	Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ...	OMIM:239100
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Polycystic ovaries, Hypertension, Hepatic fibrosis, Hepatic steatosis	ORPHA:280356
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil...	OMIM:301068
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Rickets, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia,...	OMIM:193100
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Absence of lymph node germinal center, ...	OMIM:308230
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome...	OMIM:619644
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Chronic diarrhea, Elevated circulating...	OMIM:613489
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom...	ORPHA:57777
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Elevated circulating creatine kinase concentration, Normochromic an...	OMIM:618775
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hyp...	ORPHA:89937
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ...	OMIM:216360
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis	OMIM:610688
Telangiectasia, Hereditary Hemorrhagic, Type 5	Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia	OMIM:615506
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Sudd...	OMIM:201475
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,...	ORPHA:284
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb...	OMIM:226990
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Elevated circu...	ORPHA:263501
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, ...	ORPHA:228426
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Trichohepatoenteric Syndrome 2	Hepatomegaly, Decreased serum iron, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhe...	OMIM:614602
Fanconi-Bickel Syndrome	Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrah...	OMIM:227810
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Familial Expansile Osteolysis	Pathologic fracture, Elevated circulating alkaline phosphatase concentration, Osteolysis, Thin bo...	OMIM:174810
Autoimmune Hypoparathyroidism	Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi...	ORPHA:36913
Aggressive Systemic Mastocytosis	Neutropenia, Maculopapular exanthema, Portal hypertension, Leukocytosis, Hepatosplenomegaly, Lymp...	ORPHA:98850
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Amyloidosis, Familial Visceral	Hepatomegaly, Skin rash, Splenomegaly, Cholestasis, Hypertension	OMIM:105200
Mantle Cell Lymphoma	Splenomegaly, Weight loss, B-cell lymphoma, Lymphadenopathy	ORPHA:52416
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy...	OMIM:603903
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Hyperbilirubinemia, Elevated circulating long chain fatty acid con...	OMIM:614886
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Microvesicular he...	OMIM:617156
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester...	OMIM:232700
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Combined Oxidative Phosphorylation Deficiency 1	Fulminant hepatic failure, Hepatomegaly, Cholestasis	OMIM:609060
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Cholestasis	ORPHA:1296
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Splenomegaly, Hepatitis	ORPHA:444463
Rft1-Cdg	Abnormal bleeding, Hepatomegaly	ORPHA:244310
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertension, He...	ORPHA:824
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Galactosemia Iv	Hypergalactosemia, Prolonged neonatal jaundice	OMIM:618881
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis, Enlarged tonsils	ORPHA:168621
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Meckel Syndrome, Type 6	Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts	OMIM:612284
Myotonic Dystrophy 1	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Dysphagia, Cholelithias...	OMIM:160900
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly	ORPHA:3166
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Elevated circulating alkaline phosphatase concentration, Increased spinal bone density, Recurrent...	ORPHA:329475
Cholangiocarcinoma	Biliary tract neoplasm, Jaundice, Acholic stools	ORPHA:70567
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice, Elev...	ORPHA:91547
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Myositis, Biliary atresia, Elevated circulating creatine kinase concentration	ORPHA:565899
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology	ORPHA:1802
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph...	OMIM:608971
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Refractory Celiac Disease	Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Osteoporosis, Hypoph...	ORPHA:398063
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J...	OMIM:208500
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c...	OMIM:614576
Calciphylaxis	Ectopic ossification, Hyperphosphatemia	ORPHA:280062
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Os...	OMIM:239000
Vipoma	Secretory diarrhea, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochez...	ORPHA:97282
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increase...	OMIM:617872
Chylomicron Retention Disease	Diarrhea, Decreased LDL cholesterol concentration, Hypoalbuminemia, Vomiting, Steatorrhea, Hypotr...	OMIM:246700
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S...	OMIM:610199
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c...	OMIM:264700
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi...	OMIM:226300
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Increased circulating lactate dehydr...	OMIM:259700
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Hepatitis, Biliary cirrhosis, ...	ORPHA:227990
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Pulmonary embolism, Retinal telangiectasia, Microcytic anemia, Chole...	ORPHA:774
Meckel Syndrome, Type 4	Bile duct proliferation	OMIM:611134
Glucagonoma	Hepatomegaly, Acanthocytosis, Intermittent jaundice, Adrenocortical adenoma, Constipation, Ascite...	ORPHA:97280
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Portal Vein, Cavernous Transformation Of	Extrahepatic portal hypertension	OMIM:601004
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Galactosemia Ii	Hypergalactosemia, Prolonged neonatal jaundice	OMIM:230200
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Hemolytic anemia, ...	OMIM:619487
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Abnormal circulating beta-C-terminal telopeptide concentration, Elevated alkaline pho...	OMIM:615923
Mitchell-Riley Syndrome	Absent gallbladder, Diarrhea, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyperbilirub...	OMIM:615710
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Iridocyclitis,...	ORPHA:227982
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni...	ORPHA:183675
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration	OMIM:614876
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cirrhosis, Leukemia, Myeloid leukemia	OMIM:614743
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Cholestasis, Bile duct ...	OMIM:261515
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly...	OMIM:269920
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,...	OMIM:122860
Peroxisome Biogenesis Disorder 10A (Zellweger)	Hepatomegaly	OMIM:614882
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Myelo...	ORPHA:729
Interstitial Lung Disease 2	Pulmonary arterial hypertension, Alveolar cell carcinoma, Cirrhosis	OMIM:178500
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Skin rash, Pneumonia, Abnormal circulating fatty-acid concentration, Enlarged p...	ORPHA:2298
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Hypocalcemia	OMIM:612462
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:610717
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Patent ductus arteriosus,...	OMIM:613610
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA ...	OMIM:231530
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hypertension, Cirrhosis, Hepatic steatosis	ORPHA:363400
Congenital Disorder Of Glycosylation, Type Iih	Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta...	OMIM:611182
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:613404
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Cystic Fibrosis	Male infertility, Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatospl...	OMIM:219700
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis	ORPHA:713
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regurgitation, Decreased...	OMIM:300972
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn...	ORPHA:101330
Hypocalcemic Vitamin D-Dependent Rickets	Elevated alkaline phosphatase of bone origin, Osteomalacia, Delayed epiphyseal ossification, Rick...	ORPHA:289157
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Skin rash, Abnormality of the pancreas, Jaundice, Abnormal pineal ...	ORPHA:69665
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p...	OMIM:600785
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis	ORPHA:53697
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Jaundice, Hyperammonemi...	ORPHA:1667
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Thyroiditis, ...	ORPHA:64744
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis...	ORPHA:440713
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Hypocalcemia, Hypophosphatemia, Abnorma...	ORPHA:93160
Argininemia	Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Portal fibrosis, Hyperarginine...	OMIM:207800
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly	ORPHA:158
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy	OMIM:609016
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Gingival bleeding, He...	OMIM:618549
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Autosomal Recessive Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os...	ORPHA:93324
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Jaundice, Congestive heart failure, Choles...	ORPHA:615
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Subcutaneous ossification, Osteoporosis, Hyperphosphatemia	OMIM:103580
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal bleeding, Conjugated hyperbilirubin...	OMIM:208085
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per...	OMIM:263200
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Sp...	ORPHA:1454
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Preeclampsia	Type I diabetes mellitus, Elevated circulating creatinine concentration, Abnormality of the hepat...	ORPHA:275555
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage	ORPHA:1980
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go...	OMIM:609734
Citrullinemia, Classic	Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Vomiting, Cirrhos...	OMIM:215700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Constipation, Prolonged neonatal jaundice, Abnormal circulating th...	ORPHA:95715
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Polycystic ovaries, Hypertension, ...	OMIM:604367
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Gastroesophageal refl...	OMIM:614742
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Nephronophthisis 18	Hypertension, Tubulointerstitial nephritis, Portal fibrosis, Cholestasis	OMIM:615862
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta...	ORPHA:158061
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Elevated alkaline phosphatase of bone origin, Osteomalacia, Increased circulating beta-C-terminal...	ORPHA:157215
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Brad...	OMIM:616299
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Weight loss, Lymphadenop...	ORPHA:86893
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Mednik Syndrome	Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Increased circulating very long-chain fatty a...	OMIM:609313
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos...	ORPHA:66661
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph...	OMIM:615934
Nephronophthisis 16	Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve stenosis, Pulmonic steno...	OMIM:615382
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Multiple prenatal fractures, Abnormal circulating calcium concentration, Red...	OMIM:619795
Cerebrotendinous Xanthomatosis	Angina pectoris, Myocardial infarction, Diarrhea, Abnormal circulating cholesterol concentration,...	OMIM:213700
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine...	OMIM:620366
Graft Versus Host Disease	Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu...	ORPHA:39812
Senior-Loken Syndrome	Congenital hepatic fibrosis, Abnormality of bone mineral density	ORPHA:3156
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, V...	ORPHA:3260
Congenital Disorder Of Glycosylation, Type Iid	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:607091
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland...	ORPHA:2552
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Weight loss	ORPHA:79238
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Congestive heart ...	OMIM:615512
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Congestive heart failure, Polycystic ovaries, H...	ORPHA:79083
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Diarrhea, Dysphagia, Vomiting, Macrovesicular hepatic steatosis, C...	ORPHA:298
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Reynolds Syndrome	Hepatomegaly, Telangiectasia of the skin, Skin rash, Jaundice, Xerostomia, Arthritis, Keratoconju...	ORPHA:779
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo...	ORPHA:94089
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulati...	OMIM:603553
Obesity Due To Prohormone Convertase I Deficiency	Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Cholestasis, Pitu...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Cholestasis, Pitu...	ORPHA:71526
Hypophosphatasia, Childhood	Elevated plasma pyrophosphate, Low alkaline phosphatase, Craniosynostosis	OMIM:241510
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure	OMIM:615630
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis, Hypergly...	ORPHA:134
Fumarase Deficiency	Necrotizing enterocolitis, Decreased fumarate hydratase activity, Intrahepatic cholestasis, Ascit...	OMIM:606812
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Portal hypertension, Cholestasis, Hypoalbuminemia, Hypocalcemia, U...	OMIM:613658
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Tyrosinemia, Type I	Acute hepatic failure, Hypertyrosinemia, Hepatomegaly, Elevated hepatic transaminase, Gastrointes...	OMIM:276700
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Secretory diarrhea, Cholestasis, Hypokalemia, Portal fibrosis, ...	OMIM:619377
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia	OMIM:241410
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib...	ORPHA:541423
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Thrombocytopenia, Hepatosplenom...	OMIM:606003
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, High-output con...	ORPHA:231226
Idiopathic Congenital Hypothyroidism	Bradycardia, Constipation, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:95717
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Congestive heart failure, Polycystic ovaries, Cirrhosis, Hype...	ORPHA:528
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Diarrhea, Hypertension, Vomiting, Constipation	OMIM:121300
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocy...	ORPHA:77293
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Enlarged kidney, H...	OMIM:615415
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Diarrhea, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,...	OMIM:241530
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac...	ORPHA:829
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Neoplasm of the larynx, Weight loss, Elevated carcinoembry...	ORPHA:100083
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Abnormality of the liver, Mildly elevated creatine kinase, Decreased circulating ca...	ORPHA:254864
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar...	ORPHA:53
Oncogenic Osteomalacia	Fibrous dysplasia of the bones, Increased susceptibility to fractures, Elevated circulating alkal...	ORPHA:352540
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia	OMIM:211900
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:203700
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:615158
Cystinosis	Hypokalemia, Vomiting, Portal hypertension, Hypophosphatemia	ORPHA:213
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki...	ORPHA:26791
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Porphyria, Congenital Erythropoietic	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Conjunctivitis, Elevated circulating urop...	OMIM:263700
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, C...	OMIM:124000
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis	OMIM:616629
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope...	OMIM:619991
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic...	OMIM:127000
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Diarrh...	OMIM:240300
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Propionic Acidemia	Hepatomegaly, Hyperammonemia, Cardiomyopathy, Constipation, Propionyl-CoA carboxylase deficiency,...	ORPHA:35
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia	OMIM:245550
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati...	ORPHA:333
Idiopathic Achalasia	Decreased prealbumin level, Weight loss	ORPHA:930
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade...	ORPHA:231214
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Diarrhea, Steatorrhea, Vomiting, Hypocholest...	ORPHA:71
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Astrocytoma, Lymphoma, Abnormal cardiovas...	ORPHA:79086
Multiple Symmetric Lipomatosis	Hepatomegaly, Multiple lipomas	ORPHA:2398
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Soft tissue sarcoma, Weight loss	ORPHA:2023
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Abnormal lactate dehydrogenase level, ...	ORPHA:668
Acth Deficiency, Isolated	Jaundice, Adrenocorticotropic hormone deficiency, Cholestasis	OMIM:201400
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Chronic diarrhea, H...	OMIM:613385
Cerebral Cavernous Malformations	Intracranial hemorrhage, Hepatic vascular malformations, Cerebral cavernous malformation	OMIM:116860
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumula...	ORPHA:20
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Prolonged neonatal j...	ORPHA:199296
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Hypophosphatemia	OMIM:146350
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79333
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Elevated circulating alkaline phosphatase concentration, Paget disease of bone, Elevated circulat...	OMIM:615422
Congenital Enterovirus Infection	Abnormal bleeding, Skin rash, Fetal ascites, Myocarditis, Hepatitis, Cholestasis, Hyperammonemia,...	ORPHA:292
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration	OMIM:500009
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Immunodeficiency 48	Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Eczematoid derm...	OMIM:269840
Camurati-Engelmann Disease, Type 2	Osteopenia, Hip contracture, Knee flexion contracture, Hyperostosis, Elevated circulating alkalin...	OMIM:606631
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Myelodysplasia, Cryptorchidism, Thrombocytopenia, Squamous cell carcinoma of...	OMIM:620365
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele...	OMIM:609015
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance, Anemia	ORPHA:75563
Aceruloplasminemia	Refractory anemia, Abnormal circulating enzyme concentration or activity, Decreased circulating c...	ORPHA:48818
Paget Disease Of Bone 3	Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,...	OMIM:167250
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:256810
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis	OMIM:238970
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb...	OMIM:277900
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ...	OMIM:619534
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase c...	ORPHA:2088
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Osteoarthritis, Leukop...	ORPHA:77259
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility	ORPHA:166277
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Prolonged QT interval, Maculopapu...	ORPHA:398124
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Elevated circulating creatinine concentra...	OMIM:608104
Genetic Recurrent Myoglobinuria	Elevated hepatic transaminase, Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, ...	ORPHA:99845
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Elevated circulating glutaric acid concentration, Hepatic periportal necr...	OMIM:231680
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Retr...	ORPHA:449563
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrho...	ORPHA:974
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatic fibrosis, Cirrhosis, Hepatomegaly	OMIM:601539
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Elevated circulating creatine kinase concentration, Elbow flexion co...	OMIM:616809
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Pyle Disease	Limited elbow extension, Thin bony cortex, Reduced bone mineral density	OMIM:265900
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Lymphoproliferative disorder, Glomerulonephritis, Lymphocytic...	ORPHA:289390
Familial Thyroid Dyshormonogenesis	Constipation, Bradycardia, Prolonged neonatal jaundice, Abnormal circulating thyroglobulin level,...	ORPHA:95716
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Ascites, Abnormal circulating lipid concentration	ORPHA:381
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Blue Diaper Syndrome	Elevated hepatic transaminase, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Vasculitis, Arthritis, ...	ORPHA:91138
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ...	OMIM:301074
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Low alkaline phosphatase, Increased susceptibility to...	OMIM:146300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Metachromatic Leukodystrophy	Gallbladder dysfunction, Reduced leukocyte arylsulfatase A activity, Cholecystitis	OMIM:250100
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Microcytic anemia, Elevated circulating alanine aminotra...	OMIM:618805
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Lathosterolosis	Hepatomegaly, Hepatic failure, Intrahepatic cholestasis	ORPHA:46059
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Aminoaciduria, Positive ferric chloride test, Megaloblast...	OMIM:229100
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia	OMIM:266510
Leigh Syndrome	Hepatocellular necrosis	OMIM:256000
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg...	OMIM:619418
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis	ORPHA:2323
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Atransferrinemia	Congestive heart failure, Abnormality of the liver, Hypochromic anemia, Atransferrinemia	OMIM:209300
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly	ORPHA:2432
3-Methylglutaconic Aciduria Type 1	Hepatomegaly	ORPHA:67046
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Joubert Syndrome 9	Hepatic fibrosis	OMIM:612285
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce...	OMIM:616834
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Congestive heart fai...	OMIM:619048
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatomegaly, Thrombocytosis, Increased mean platelet volume, Abnormality o...	OMIM:222470
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c...	OMIM:277440
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Elevated alkaline phosphatase of bone origin, Osteolysis involving bon...	ORPHA:73
Metatropic Dysplasia	Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon...	ORPHA:2635
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H...	OMIM:207900
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Chronic diarrhea, Steatorrhea, Elevated circulating alkaline phosphat...	OMIM:618268
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hypouricemia, Rickets, Elevated circulating alkaline...	OMIM:616026
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy	OMIM:607685
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614727
Klatskin Tumor	Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Neutrophilia, Liver abscess, Elevated circulating C-reactive prote...	ORPHA:54251
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex	OMIM:176920
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Ck Syndrome	Abnormal cortical bone morphology, Joint hypermobility	OMIM:300831
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Weight loss, Neopl...	ORPHA:69077
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ...	ORPHA:540
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia	OMIM:613987
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Cardio...	ORPHA:98907
Familial Isolated Dilated Cardiomyopathy	Elevated circulating creatine kinase concentration, Abnormality of neutrophils	ORPHA:154
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Tachycardia, Skin rash, Heart blo...	ORPHA:542323
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome...	OMIM:607115
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Autosomal Dominant Hypocalcemia	Hypomagnesemia, Hyperphosphatemia, Hypocalcemia, Reduced bone mineral density	ORPHA:428
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p...	ORPHA:449395
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L...	ORPHA:470
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia	ORPHA:99879
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:1525
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Hypercalcemia	ORPHA:2668
Fanconi Renotubular Syndrome 1	Osteomalacia, Rickets, Hypokalemia, Elevated circulating alkaline phosphatase concentration, Hypo...	OMIM:134600
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong...	OMIM:274150
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibrosis, Vomitin...	ORPHA:14
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy...	OMIM:617021
Sandhoff Disease	Splenomegaly, Hepatomegaly, Congestive heart failure	ORPHA:796
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Iron deficiency anemia, Hypocalcemia, Steatorrhea, Type I diabetes mellitus, T...	OMIM:212750
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Arthri...	ORPHA:33110
Igg4-Related Submandibular Gland Disease	Cholangitis, Retroperitoneal fibrosis, Prostatitis, Abnormal pancreas morphology, Enlarged lacrim...	ORPHA:449432
Kenny-Caffey Syndrome, Type 1	Decreased skull ossification, Calvarial osteosclerosis, Hypocalcemia, Hypomagnesemia	OMIM:244460
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Hypophosphatemic Rickets, X-Linked Recessive	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ...	ORPHA:47
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Nausea, Jaundice, Bicar...	OMIM:229600
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Laurence-Moon Syndrome	Cryptorchidism, Congenital hepatic fibrosis	ORPHA:2377
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Elevated circu...	OMIM:307800
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb...	ORPHA:507
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia	ORPHA:100024
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc...	OMIM:602080
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Aminoaciduria, Anisocytosis	OMIM:604273
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Mirage Syndrome	Hyponatremia, Hypoglycemia, Hyperkalemia, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Th...	OMIM:617053
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Erysipelas, Elevated circulating creatine kinase concentration	OMIM:615704
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis, Recurrent frac...	OMIM:126550
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m...	ORPHA:169160
Turner Syndrome Due To Structural X Chromosome Anomalies	Myocardial infarction, Gastrointestinal inflammation, Inflammation of the large intestine, Hepati...	ORPHA:99413
Mosaic Monosomy X	Myocardial infarction, Gastrointestinal inflammation, Inflammation of the large intestine, Hepati...	ORPHA:99228
Monosomy X	Myocardial infarction, Gastrointestinal inflammation, Inflammation of the large intestine, Hepati...	ORPHA:99226
Turner Syndrome	Myocardial infarction, Gastrointestinal inflammation, Inflammation of the large intestine, Hepati...	ORPHA:881
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,...	OMIM:300842
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Cardiomegaly, Vomiting, Macrovesicular hepati...	OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Grant Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi...	ORPHA:275761
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Elevated circ...	ORPHA:2394
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,...	ORPHA:79444
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Decreased liver function, ...	OMIM:246900
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Iron deficien...	OMIM:269200
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Osteolysis, Increased susceptibility to fract...	ORPHA:52430
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:85414
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Neonatal hyperbilirubinemia	ORPHA:3363
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Gastritis, Increased mean platelet volume, Splenomegaly, Bloo...	ORPHA:84064
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Autosomal Dominant Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Decreased sku...	ORPHA:93325
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple...	OMIM:266920
Lichen Planopilaris	Neoplasm of the oral cavity, Hepatitis	ORPHA:525
Aa Amyloidosis	Hypotension, Hepatomegaly, Enlarged kidney, Cholestasis	ORPHA:85445
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Decreased liver function	OMIM:614870
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Reduced bone mineral density	ORPHA:2611
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cryptorchidism, Cholelithiasis, Decreased testicular size	OMIM:300534
Acute Liver Failure	Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Skin rash, ...	ORPHA:90062
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Reticulo...	OMIM:557000
Legionnaires Disease	Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Hypoten...	ORPHA:549
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly, Hyperammonemia	ORPHA:28
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating asparta...	OMIM:619386
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypercalcemia, Craniosynostosis	OMIM:614732
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Weight loss,...	ORPHA:545
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hy...	OMIM:619064
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:212140
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Pulmonary Blastoma	Pleuropulmonary blastoma, Weight loss	ORPHA:64741
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Decreased circulating cortisol level, Hypogly...	ORPHA:199299
Pseudo-Torch Syndrome 3	Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenit...	OMIM:618886
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop...	ORPHA:83469
Dyskeratosis Congenita, Autosomal Dominant 1	Myelodysplasia, Hepatic necrosis, Interstitial pneumonitis, Squamous cell carcinoma of the skin, ...	OMIM:127550
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act...	OMIM:203800
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hepatosplenomegaly, Chronic constipation, Cholecystitis, Recurrent otitis media, Ch...	OMIM:301066
Neurofibroma	Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Paraspinal neurofibroma, Neur...	ORPHA:252183
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop...	OMIM:612541
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Elevated circulating alkali...	OMIM:156400
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Elevated alkaline phosphatas...	ORPHA:289176
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat...	ORPHA:79096
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Episodic vomiting, Hyperammonemia, Eleva...	OMIM:615160
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenop...	ORPHA:79292
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis ...	ORPHA:79443
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Secondary Intestinal Lymphangiectasia	Lymphopenia, Intestinal obstruction, B-cell lymphoma, Right ventricular failure, Reduced circulat...	ORPHA:90363
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Episodic vomiting	OMIM:618224
Medullary Thyroid Carcinoma	Neoplasm of the skeletal system, Primary hyperparathyroidism, Abnormal liver parenchyma morpholog...	ORPHA:1332
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem...	ORPHA:36234
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
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
Alagille Syndrome 2	Hypertension, Cholestatic liver disease, Pulmonic stenosis, Cholestasis	OMIM:610205
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Decreased skull ossification, Hypocalcemia	OMIM:602361
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Cryptorchidis...	OMIM:249000
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Reduced C-peptide level, Decreased circulating lipoprotein lipase concentrati...	ORPHA:556955
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, C...	OMIM:620005
Focal Myositis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Hepatomegaly, Ascites, Gastrointestinal hemorrhage	ORPHA:2198
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati...	OMIM:614872
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, Lymphoma, Bron...	OMIM:240500
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:615703
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis	ORPHA:529665
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly	OMIM:614741
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Diarrhea, ...	ORPHA:858
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Breast carcinom...	ORPHA:157798
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cholestatic liver disease, Hypertrophic cardiomyopathy	ORPHA:5
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility	ORPHA:1486
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Cholestasis, Cardiomyopath...	ORPHA:746
Myopathy, Distal, Tateyama Type	Increased circulating lactate dehydrogenase concentration, Elevated circulating aspartate aminotr...	OMIM:614321
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Hypertension, Hepatic steatosis, Increased C-peptide level	OMIM:615238
Melioidosis	Shock, Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, H...	ORPHA:31202
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Cardiac arrest, Pustule, Myocard...	ORPHA:139402
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis	ORPHA:2591
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79332
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:42
Hijazi-Reis Syndrome	Chronic constipation, Gastroesophageal reflux, Hyperbilirubinemia	OMIM:301094
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Cutaneous myx...	ORPHA:562
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Macronodular cirrhosis, Abnormal T cell morphology	OMIM:215250
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Abnormality of the liver...	ORPHA:2169
Diarrhea 7, Protein-Losing Enteropathy Type	Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Hypercholesterolemia	OMIM:615863
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Constipation, Bradycardia...	ORPHA:90673
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly, Hypogonadism, Cardiomyopathy	OMIM:608540
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Ascites, Pulmonic stenosis, Restr...	OMIM:619433
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Cardiac arrest, Dysphagia	ORPHA:77260
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:42642
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Raynaud phenomenon, Micronodular cirr...	OMIM:192315
Acquired Partial Lipodystrophy	Insulin resistance, Hepatic steatosis, Lymphocytosis	ORPHA:79087
Congenital Disorder Of Glycosylation, Type In	Hepatomegaly	OMIM:612015
Hereditary Chronic Pancreatitis	Diabetes mellitus, Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice,...	ORPHA:676
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H...	OMIM:618476
Congenital Disorder Of Glycosylation, Type Ia	Hepatic steatosis, Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Steatorrhea, Thrombocytosis, ...	OMIM:212065
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the nose, Biliary tract neopl...	ORPHA:2869
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con...	ORPHA:79277
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hepatomegaly	OMIM:266150
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Donohue Syndrome	Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis	OMIM:246200
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Diffuse hepatic steatosis	OMIM:264470
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin...	ORPHA:464321
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Skin rash, Diarrhea, Vasculitis, Increased serum zinc	OMIM:601979
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia	OMIM:613388
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism	OMIM:613861
Martinez-Frias Syndrome	Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal...	OMIM:601346
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Dent Disease 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:300555
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia, Anemia	OMIM:610090
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hypoglycemia, Hyperammonemia	ORPHA:664
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bo...	ORPHA:249
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hypercalcemia, Hemangiomatosis, Visceral angiomatosis, Anemia, Ascites, Thrombocyto...	ORPHA:2123
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Di...	ORPHA:276556
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Glutathione Synthetase Deficiency	Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia	OMIM:266130
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Bardet-Biedl Syndrome	Cryptorchidism, Hypoplasia of the ovary, Hepatic fibrosis, Hypertension	ORPHA:110
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Neon...	OMIM:619046
Dent Disease 1	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Johanson-Blizzard Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Increased VLDL chole...	OMIM:243800
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Congenital Myopathy 11	Elevated hepatic transaminase, Abnormal circulating creatine kinase concentration	OMIM:619967
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, ...	OMIM:251000
Brucellosis	Hepatomegaly, Liver abscess, Lung abscess, Elevated circulating C-reactive protein concentration,...	ORPHA:1304
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Decreased LDL cholesterol concentration, Elevated c...	OMIM:618156
Acrodysostosis 1 With Or Without Hormone Resistance	Calvarial hyperostosis, Epiphyseal stippling, Neonatal epiphyseal stippling, Hyperphosphatemia	OMIM:101800
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin...	OMIM:613095
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Di...	ORPHA:276575
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep...	ORPHA:1333
Leber Congenital Amaurosis 1	Hepatomegaly, Hyperthreoninemia	OMIM:204000
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Fibrodysplasia Ossificans Progressiva	Progressive cervical vertebral spine fusion, Ectopic ossification in tendon tissue, Ectopic ossif...	OMIM:135100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hepatic failure, Portal hypertension	OMIM:619431
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Axial Osteomalacia	Polycystic liver disease, Elevated circulating creatine kinase concentration	OMIM:109130
Yellow Fever	Elevated circulating creatine kinase concentration, Vomiting, Nausea, Internal hemorrhage, Neutro...	ORPHA:99829
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Col...	ORPHA:37042
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Recurrent pneumonia, Constipation, Pulmonary arterial hypertension	ORPHA:464738
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration	OMIM:613312
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop...	OMIM:618986
Nephroblastoma	Weight loss, Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy, Neoplasm, Hypertension...	ORPHA:654
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Male infertility, Premature ovarian insufficiency, A...	ORPHA:79239
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Hyperkalemia, Increased circulating ren...	OMIM:610600
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Hypertension	OMIM:608600
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Hyperlipoproteinemia, Type I	Nausea, Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Vomiting, I...	OMIM:238600
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Pelvic mass, Soft tissue neoplasm, Vaginal neoplasm, Reduced C-pe...	ORPHA:2126
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Hypertrophic cardiomyopathy, Elevated hemoglobin A1c, Cirrhosis, Exocrine pancreatic insufficiency	OMIM:616539
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Sudden cardiac death, Transient hyperlipidemia, Arrh...	ORPHA:156
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Hematological neoplasm, Splenomegaly, Lymphaden...	ORPHA:98848
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea...	ORPHA:415
Subaortic Stenosis-Short Stature Syndrome	Arrhythmia, Abnormal circulating lipid concentration, Biliary tract abnormality, Acne	ORPHA:3191
Secondary Short Bowel Syndrome	Low plasma citrulline, Enterocolitis, Abnormal blood ion concentration, Cholestasis	ORPHA:95427
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Elevated alkaline phosphatase of bone origin, Scleros...	ORPHA:85188
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Hematological neoplasm, Keratitis, Hepatitis, Bronchiectasis...	ORPHA:1163
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of ...	OMIM:607594
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Galactokinase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Premature ovarian insufficie...	ORPHA:79237
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Chronic diarrhea, Leukopenia, Hepatic fibr...	OMIM:613989
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614859
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	ORPHA:158048
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Polycystic ovaries, Hypertension, Hepatic steatosis, Pancreatitis	ORPHA:79084
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphoma, Lymphadenopathy, Arthr...	ORPHA:37748
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Diar...	OMIM:618495
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopat...	ORPHA:2584
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:212138
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:616511
Babesiosis	Hepatomegaly, Hemolytic anemia, Myocardial infarction, Splenomegaly, Jaundice, Congestive heart f...	ORPHA:108
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega...	OMIM:608594
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Diarrhea, L...	ORPHA:99828
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We...	ORPHA:103910
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Poems Syndrome	Diabetes mellitus, Lymphadenopathy, Thrombocytosis, Ascites, Polycythemia, Visceromegaly	ORPHA:2905
Parkinson Disease 17	Tremor, Resting tremor, Bradykinesia, Akinesia	OMIM:614203
Propionic Acidemia	Hepatomegaly, Pancytopenia, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Anemia, Hyperglycinemi...	OMIM:606054
Hydroxykynureninuria	Jaundice	OMIM:236800
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Low alkaline phosphatase, Increas...	OMIM:241500
Ebola Hemorrhagic Fever	Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepa...	ORPHA:319218
Renal Hypoplasia, Bilateral	Hyponatremia, Hyperkalemia, Anemia, Glycosuria	ORPHA:97362
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thromboc...	ORPHA:2072
Isolated Thyroid-Stimulating Hormone Deficiency	Thyroid hypoplasia, Pituitary hypothyroidism, Constipation, Bradycardia, Prolonged neonatal jaund...	ORPHA:90674
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy...	ORPHA:811
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased circulating cortisol level, Anemia	OMIM:611489
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Bohring-Opitz Syndrome	Nephroblastoma, Cardiomegaly, Medulloblastoma, Vomiting, Bradycardia, Cholelithiasis, Annular pan...	ORPHA:97297
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype...	ORPHA:29073
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Aortic regurgitation, Tricuspid regurgitation, Ele...	OMIM:614866
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy...	ORPHA:324636
Chronic Mucocutaneous Candidiasis	Cheilitis, Dyspareunia, Skin rash, Hepatitis	ORPHA:1334
Potocki-Lupski Syndrome	Gastroesophageal reflux, Oral-pharyngeal dysphagia, Hypocholesterolemia	OMIM:610883
Cinca Syndrome	Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea...	ORPHA:1451
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemi...	ORPHA:95409
Combined Immunodeficiency-Enteropathy Spectrum	Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Abnormal ductus choledochus morphol...	ORPHA:436252
Muckle-Wells Syndrome	Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:191900
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypocholesterolemia	OMIM:618810
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st...	OMIM:618234
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:120100
Metachromatic Leukodystrophy	Abnormal circulating enzyme concentration or activity, Bowel incontinence, Abnormal gallbladder m...	ORPHA:512
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Lymphoma, Bronchiectasis, Lymphaden...	ORPHA:397596
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Recurren...	OMIM:615122
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphoma, Weight loss, Lymphadenopathy, Neoplasm, Bone marrow hypocel...	ORPHA:391
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Jaundice, Hepatitis, ...	ORPHA:509
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Pustule, Cheilitis, ...	ORPHA:293173
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop...	ORPHA:276580
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Low plasma citrulline, Elevated circulating alanine aminotransferase concentration,...	OMIM:261680
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney	OMIM:200995
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypophosphatemia, Pancreatitis	OMIM:600740
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Rift Valley Fever	Elevated hepatic transaminase, Abnormal bleeding, Skin rash, Hematemesis, Jaundice, Hepatitis, Re...	ORPHA:319251
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos...	OMIM:612840
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Hypophosphatasia	Hypercalcemia, Recurrent fractures, Craniosynostosis	ORPHA:436
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, ...	ORPHA:83617
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Stomat...	ORPHA:168577
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Acute hyperammonemia, Myelodysplasia, Hyperglutaminemia, Diarrhea, Hyperammonemia, ...	ORPHA:927
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase	OMIM:615438
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Osteopetrosis, Hypocalcemic seiz...	OMIM:612301
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620125
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increase...	ORPHA:90041
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia	OMIM:617913
Pleural Mesothelioma	Hepatomegaly, Weight loss, Abnormal cardiovascular system physiology, Lymphadenopathy	ORPHA:50251
Sarcoidosis	Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Leukopenia, Tubulointersti...	ORPHA:797
Steinert Myotonic Dystrophy	Brain neoplasm, Prolonged QRS complex, Decreased response to growth hormone stimulation test, Ora...	ORPHA:273
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Brain neoplasm, Elevated carcinoma antigen 125 level, Elevated circulat...	ORPHA:370348
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Congesti...	ORPHA:98908
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocy...	OMIM:619164
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:613561
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Increased susceptibility to fractures, Elevated ci...	OMIM:610968
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Alagille Syndrome	Hepatomegaly, Telangiectasia of the skin, Cryptorchidism, Cholestasis, Hypertension, Reduced numb...	ORPHA:52
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Eleva...	ORPHA:263455
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, S...	ORPHA:422
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Diarrhea, Hype...	OMIM:615387
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor...	ORPHA:556037
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:608799
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, In...	ORPHA:324575
Isolated Congenital Hypoglossia/Aglossia	Hamartoma, Weight loss	ORPHA:141152
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Elevated circula...	OMIM:615673
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia	OMIM:598500
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Laryngeal papilloma, Elevated circulating C-reactive p...	OMIM:617388
Alagille Syndrome 1	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc...	OMIM:118450
Lipodystrophy, Familial Partial, Type 6	Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertension, Abnormal circul...	OMIM:615980
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Idiopathic Hypercalciuria	Osteopenia, Abnormal circulating calcium concentration, Osteoporosis	ORPHA:2197
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Anemia	OMIM:266900
Weismann-Netter Syndrome	Abnormal cortical bone morphology	ORPHA:3344
Addison Disease	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemi...	ORPHA:85138
Tuberculosis	Weight loss	ORPHA:3389
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Cardiomyopathy, Rhinitis	ORPHA:93476
Shigellosis	Hyponatremia, Pneumonia, Myocarditis, Peritonitis, Abnormal blood ion concentration, Cholestasis,...	ORPHA:810
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut...	OMIM:251110
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Distal Duplication 5Q	Cryptorchidism, Eczema, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:26793
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,...	ORPHA:677
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Steatorrhea, Hepatic failure, Anemia	ORPHA:75233
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex	OMIM:619638
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor...	ORPHA:556030
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Immunoerythromyeloid Hypoplasia	Absent leukocyte alkaline phosphatase	OMIM:242880
Nephronophthisis 11	Hepatic fibrosis, Anemia	OMIM:613550
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto...	OMIM:300853
Digeorge Syndrome	Parathyroid agenesis, Acne, Seborrheic dermatitis, Splenomegaly, Thrombocytopenia, Recurrent pneu...	OMIM:188400
Triploidy	Cryptorchidism, Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas	ORPHA:3376
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Hyperammonemia, Cardiomyopathy, V...	OMIM:616483
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Ve...	ORPHA:159
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con...	ORPHA:732
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Hypochromic m...	OMIM:619423
Thymic Neuroendocrine Tumor	Osteopenia, Increased circulating cortisol level, Pancreatic islet cell adenoma, Hypercalcemia	ORPHA:97289
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Juvenile...	ORPHA:2929
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1302
Nephronophthisis 3	Hepatic fibrosis	OMIM:604387
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:177735
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Elevated circu...	OMIM:619573
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Thrombocytopenia	OMIM:231000
Myasthenia Gravis	Myositis, Raynaud phenomenon, Hepatitis, Rheumatoid arthritis, Hashimoto thyroiditis	ORPHA:589
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Telangiectasia of the skin, Cr...	OMIM:615381
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism	OMIM:618958
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Cardiomyopathy, Pa...	ORPHA:27
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir...	OMIM:614857
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis	OMIM:263210
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Gastroesophageal r...	ORPHA:2414
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma	OMIM:619437
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Gastrointestinal hemorrhage, Acne, Abnormality of the tonsils, Bowel incontin...	ORPHA:567
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, ...	ORPHA:667
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Cryptorchidism, Ileus, Portal hypertension, Hepatosplenomegaly	OMIM:609136
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Iron deficiency anemia, Decreased HDL cholesterol concentration, Hypo...	OMIM:618885
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated hepatic transaminase, Gastroparesis, Elevated circulating creatine kinase concentration,...	OMIM:610131
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Cryptococcosis	Lymphoid leukemia, Osteomyelitis, Pneumonia, Mediastinal lymphadenopathy, Peritonitis, Neoplasm, ...	ORPHA:1546
Autoimmune Lymphoproliferative Syndrome	Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, Abnormal bleeding, Hepatomegaly, P...	ORPHA:3261
Mucopolysaccharidosis Type 7	Splenomegaly, Ascites, Hepatitis	ORPHA:584
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Thrombocytopenia, Heart murmur, Intracranial hemorrhage, Hypo...	ORPHA:163979
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Hepatomegaly, Recurrent pneumonia	OMIM:615637
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex	OMIM:617952
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperuricemia, Anemia	OMIM:246450
Alg2-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity	ORPHA:79326
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Oligomenorrhea, Hepatic steatosis	ORPHA:79085
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Purpura, Pericarditis, Membranoproliferative glomer...	ORPHA:91139
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Splenomegaly, In...	OMIM:615846
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycysti...	ORPHA:435660
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hyperammonemia, Hype...	ORPHA:3008
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Kaposi Sarcoma	Generalized lymphadenopathy, Lymphoproliferative disorder, Abnormality of the spleen, Neoplasm by...	ORPHA:33276
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Splenomegaly, Di...	ORPHA:99745
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Diarrhea, Erythroderma, Lym...	ORPHA:79456
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Genitopalatocardiac Syndrome	Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder	ORPHA:2075
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti...	OMIM:307200
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Telangiectasia of the skin, Abnormality of neutrophils, S...	ORPHA:1775
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:617099
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Reduced bone...	ORPHA:89936
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Elevated circulating creatine kinase...	OMIM:619424
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Dent Disease	Renal hypophosphatemia, Osteomalacia, Recurrent fractures, Elevated circulating creatine kinase c...	ORPHA:1652
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Diarrhea, Lymphadenopathy	ORPHA:56425
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Enlarged kidney, Purpura	OMIM:613496
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Hepatic steatosis, Exocrine pan...	OMIM:616263
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Joint stiffness, Splenomegaly, Decreased beta-galactosidase activity, Thin bony cortex	OMIM:230600
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,...	ORPHA:355
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Autoimmune thromboc...	ORPHA:293978
Kawasaki Disease	Pericarditis, Skin rash, Congestive heart failure, Jaundice, Vasculitis, Myocarditis, Hepatitis, ...	ORPHA:2331
Immunodeficiency 102	Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp...	OMIM:301082
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash...	OMIM:617591
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemia	OMIM:614736
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased...	OMIM:618620
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Elevated circulating creatinine concentration	OMIM:616733
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Cervical...	OMIM:142680
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Familial Adenomatous Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad...	ORPHA:733
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Cerebral vasculitis, Palpable purpur...	ORPHA:48435
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ...	OMIM:150550
Rett Syndrome	Increased serum pyruvate, Cholecystitis, Hyperammonemia	ORPHA:778
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration	OMIM:616917
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Diabetes mellitus, Elevated hemoglobin A1c	OMIM:619278
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Ascites, Hepatic fibrosis	OMIM:614091
Cranioectodermal Dysplasia 1	Joint laxity, Hepatomegaly, Sagittal craniosynostosis, Malformation of the hepatic ductal plate, ...	OMIM:218330
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Bronchiectasis, Cholestasis, Recurrent otitis media, Pulmo...	OMIM:620233
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Oligomenorrhea, Hepatic steatosis, Pancre...	ORPHA:435651
Cerebrotendinous Xanthomatosis	Cholelithiasis, Chronic diarrhea, Abnormal circulating enzyme concentration or activity, Prolonge...	ORPHA:909
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Hypoglycemia, Elevated circulating creatine kinase concentration, H...	ORPHA:99826
Immunodeficiency 54	Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Adrenocorticotropic ho...	OMIM:609981
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Skin rash, Megaloblastic anemia, Intraventricular hemorrhage, Elevated circula...	ORPHA:79284
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Peritonitis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia...	ORPHA:391673
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
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a...	ORPHA:95459
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:615273
Mevalonic Aciduria	Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:610377
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p...	OMIM:617718
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chroni...	ORPHA:83471
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia, Anemia	OMIM:174000
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Pulmonary embolism, Abnormali...	ORPHA:90308
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary prolactin cel...	ORPHA:276152
Polyarteritis Nodosa	Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Weight l...	ORPHA:767
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Patent ductus arteriosus	ORPHA:290
Spondyloenchondrodysplasia	Enchondroma, Skin rash, Decreased response to growth hormone stimulation test, Pneumonia, Raynaud...	ORPHA:1855
Osteopetrosis With Renal Tubular Acidosis	Abnormal circulating enzyme concentration or activity, Hepatomegaly, Recurrent fractures, Elevate...	ORPHA:2785
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nodular regenerative hyperplasia of liver, Elevated circulating creatinine con...	ORPHA:247691
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis	ORPHA:2031
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent skin infections, Splenomegaly, Leukopenia, Lymphopenia	OMIM:620210
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis...	ORPHA:2796
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Saccharopinuria	Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, Elevated plasma citrull...	ORPHA:3124
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis, Arthritis, Decreased acid ceramidase activity	OMIM:228000
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Interstitial pneumonitis, Vasculitis in the skin, Petechiae, Purpura	OMIM:620296
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, A...	OMIM:616100
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Low alkaline phosphatase	OMIM:618879
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Hypocalcemia, Hepatic failure, Hypoprote...	OMIM:235255
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Pituitary prolactin ...	ORPHA:913
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein con...	OMIM:612852
Bardet-Biedl Syndrome 1	Biliary tract abnormality, Abnormality of the ovary, Hypertension, Hepatic fibrosis, Left ventric...	OMIM:209900
Melnick-Needles Syndrome	Craniofacial hyperostosis, Abnormal cortical bone morphology, Osteolytic defects of the phalanges...	ORPHA:2484
Interstitial Nephritis, Karyomegalic	Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Bachmann-Bupp Syndrome	Hypoglycemia, Hyperbilirubinemia	OMIM:619075
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Asplenia, Aortic valve stenosis, Pulmonary arterial hypertension, Annular pan...	ORPHA:210122
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Hyperammonemia	OMIM:610678
Analbuminemia	Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL cholester...	OMIM:616000
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Paget Disease Of Bone 6	Elevated circulating alkaline phosphatase concentration, Osteoarthritis, Recurrent fractures	OMIM:616833
Hereditary Fructose Intolerance	Hepatomegaly, Reduced circulating aldolase concentration, Nausea, Jaundice, Diarrhea, Hypermagnes...	ORPHA:469
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacteria...	ORPHA:276
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice	ORPHA:423479
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cryptorchidism	OMIM:613730
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin...	ORPHA:308552
Perlman Syndrome	Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Capillary hemangioma, Nephroblastoma	ORPHA:2849
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph...	ORPHA:100080
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Congestive heart failure, Cryptorchidism, Hyperammonemia, Arrhythmia, Hypertrophic ...	ORPHA:1194
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Weight loss, Lymphadenopathy	ORPHA:26790
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney	OMIM:602088
Gray Platelet Syndrome	Splenomegaly, Myelodysplasia, Epistaxis, Thrombocytopenia	ORPHA:721
Staphylococcal Necrotizing Pneumonia	Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocyto...	ORPHA:36238
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Inflammatory abnormality of ...	ORPHA:565612
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, P...	ORPHA:436159
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Diarrhea...	OMIM:253260
Nephronophthisis 13	Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:614377
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Congestive heart failure, Seconda...	ORPHA:2348
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:544482
Sialidosis Type 2	Splenomegaly, Hepatomegaly, Ascites	ORPHA:87876
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Ascites, Aspiration pn...	OMIM:301072
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia	OMIM:175500
Infantile Refsum Disease	Hepatomegaly, Arrhythmia, Elevated circulating phytanic acid concentration, Cardiomyopathy	ORPHA:772
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Splenomegaly...	OMIM:170100
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Fanconi Anemia, Complementation Group Q	Biliary atresia	OMIM:615272
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
American Trypanosomiasis	Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Congestive heart failure, Diarrhea, Lymphaden...	ORPHA:3386
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia	OMIM:264350
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Hypocalcemia	OMIM:618440
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Congestive heart failure, Leukocytosis, Weight loss...	ORPHA:67
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Spastic Paraplegia 29, Autosomal Dominant	Vomiting, Neonatal hyperbilirubinemia	OMIM:609727
Arima Syndrome	Hepatomegaly, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia	OMIM:243910
Cystic Fibrosis	Elevated hepatic transaminase, Sinusitis, Meconium ileus, Bronchiectasis, Abnormality of the live...	ORPHA:586
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Tularemia	Brain abscess, Mediastinal lymphadenopathy, Leukocytosis, Abnormal nasopharyngeal adenoid morphol...	ORPHA:3392
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Congenital Tufting Enteropathy	Arthritis, Cholestatic liver disease, Punctate keratitis	ORPHA:92050
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormally ossified vertebrae, Abnormality of the pancreas, Joint hyperflexibility,...	ORPHA:175
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Hepatosplenomegaly, Hypocalcemia, Hepati...	ORPHA:1655
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Elevated creatine kinase after exercise, Abnormal lactate dehydrog...	ORPHA:284426
Developmental And Epileptic Encephalopathy 102	Hepatomegaly, Gastroesophageal reflux, Chronic constipation	OMIM:619881
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Megaloblastic anemia, Cystathioninuria, Hyper...	OMIM:277380
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Pentalogy Of Cantrell	Absent gallbladder, Polysplenia	ORPHA:1335
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut...	OMIM:251100
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,...	ORPHA:100078
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Breast carcinoma, Hamartoma...	OMIM:175200
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Disseminated cutaneous warts, Abnormal lymphatic vessel morphology, Weight l...	ORPHA:90362
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomeg...	ORPHA:404454
Craniometadiaphyseal Dysplasia	Osteopenia, Sclerosis of skull base, Elevated circulating alkaline phosphatase concentration	OMIM:269300
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:2902
Microcephaly, Amish Type	Hepatomegaly	OMIM:607196
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Oropharyngeal squamous cell carcinoma, Inflammatory abnormality of the skin, Eczema, Congestive h...	ORPHA:391487
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:201450
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the...	ORPHA:3162
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity	ORPHA:98827
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, C...	OMIM:618999
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy	OMIM:252920
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Eczema, Facial capillary hemangioma, Cryptorchidism, Splenomegaly, Hypertension, Ch...	OMIM:270400
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph...	ORPHA:100082
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Low choleste...	OMIM:257220
Cranioectodermal Dysplasia 3	Cirrhosis	OMIM:614099
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c	OMIM:616113
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia	ORPHA:73272
Senior-Loken Syndrome 8	Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
8P Inverted Duplication/Deletion Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the gallbladder	ORPHA:96092
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Hypertriglyceridemia, Tachyca...	OMIM:613327
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe...	OMIM:617052
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha...	OMIM:619743
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Cryp...	OMIM:305000
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Glioblastoma multiforme, Ben...	ORPHA:440437
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activit...	ORPHA:79324
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Wei...	ORPHA:94080
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa...	OMIM:615513
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia	ORPHA:6
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Pneumonia, Elevated circulating C-reactive protein concentration, Recur...	OMIM:619381
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration, Glycosuria	OMIM:615605
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Pancreatitis, Hypocalcemic ...	ORPHA:405
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Hypertrophic cardiomyopathy, Telangiectasia of the skin, Telangiectasia	ORPHA:79279
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Large vessel ...	ORPHA:728
Omenn Syndrome	Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, Chronic diarrhea, Th...	ORPHA:39041
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus...	OMIM:214110
Meckel Syndrome 14	Mitral regurgitation, Tricuspid regurgitation, Hepatic fibrosis	OMIM:619879
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Dilated cardiomyopathy, Vomiting, Hyperglycinemia, Hypertrophic cardiomyopathy	OMIM:614299
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia	OMIM:613986
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Seborrheic dermatitis, Microvesicular hepatic steatosis, Elevated circulating alkal...	OMIM:300868
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Diarrhea, Low alkaline phosphatase, Decreased serum zinc, Decreased t...	OMIM:201100
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Uveitis, Arthritis, Conjunctivit...	ORPHA:575
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, C...	ORPHA:90033
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Isolated Atp Synthase Deficiency	Hepatomegaly, Dilated cardiomyopathy, Hyperammonemia, Hypogonadism, Arrhythmia, Hyperalaninemia, ...	ORPHA:254913
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly eleva...	OMIM:251900
Acute Disseminated Encephalomyelitis	Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis	ORPHA:83597
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno...	OMIM:602450
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Splenomegaly, J...	ORPHA:90051
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly	ORPHA:251009
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Infectious encephalitis, Nephritis, He...	ORPHA:73263
Stiff Person Spectrum Disorder	Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia, Hyperammonemia, Neutropenia	OMIM:618253
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Fingerpa...	OMIM:600376
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Recurrent pn...	ORPHA:47612
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Increased circulating NT-proBNP concentr...	ORPHA:85443
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Reni Syndrome	Lymphopenia, Hypoalbuminemia, Hypoglycemia, Hypertriglyceridemia	OMIM:617575
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration	ORPHA:329178
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly	ORPHA:50812
Craniofacioskeletal Syndrome	Absent gallbladder, Hypocalcemia, Cryptorchidism	OMIM:300712
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Congestive heart failure, Pulmonary carcinoid tumor, Abnormal intrahepatic ...	ORPHA:363618
Thoraco-Abdominal Enteric Duplication	Hepatomegaly	ORPHA:1759
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Hemorrhagic Fever-Renal Syndrome	Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate...	ORPHA:340
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Patent ductus arteriosus, De...	OMIM:251290
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N...	OMIM:232220
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Eosinophilia, Eczema, Splenomegaly, Recurrent pneumon...	OMIM:616651
16P12.1P12.3 Triplication Syndrome	Abnormal intrahepatic bile duct morphology, Bilateral cryptorchidism, Tachycardia, Decreased resp...	ORPHA:485405
Castleman Disease	Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive protein concentratio...	ORPHA:160
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Elevated tissue non-specific alkaline ...	ORPHA:785
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Decreased response to growth hormone stimulation test, Portal hypertension, Fet...	OMIM:619503
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Thrombocytopenia, Hypertensio...	OMIM:230800
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Raine Syndrome	Increased bone mineral density, Elevated circulating alkaline phosphatase concentration, Subperio...	OMIM:259775
Free Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Ascites	ORPHA:834
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Elevated circulating aspa...	OMIM:620300
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,...	ORPHA:50918
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Thr...	ORPHA:85212
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv...	OMIM:222700
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia	ORPHA:85447
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, Conjunctiviti...	OMIM:300755
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Weight loss	ORPHA:178029
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveiti...	OMIM:612387
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Birk-Landau-Perez Syndrome	Hyperkalemia, Increased circulating creatine kinase MB isoform	OMIM:617595
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Constipation,...	OMIM:239200
Distal Deletion 17Q	Hepatomegaly, Patent ductus arteriosus	ORPHA:1597
Whipple Disease	Hyponatremia, Hepatomegaly, Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infar...	ORPHA:3452
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Diarrhea, Asymmetric septal hypertrophy	OMIM:252900
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer...	OMIM:618500
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu...	OMIM:259600
Hemolytic Anemia, Congenital, X-Linked	Jaundice	OMIM:301015
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatinine concentra...	OMIM:614376
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Wild Type Attr Amyloidosis	Hepatomegaly, Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, ...	ORPHA:330001
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Gout, Hypertension, Hyperuricemia, H...	OMIM:232200
Urachal Cyst	Abdominal mass, Abscess, Elevated circulating C-reactive protein concentration, Leukocytosis, Per...	ORPHA:488
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Steatorrhea, Persistence of hemoglobin F, Ane...	OMIM:260400
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive...	ORPHA:49041
Caspase 8 Deficiency	Pneumonia, Eczema, Splenomegaly, Chronic diarrhea, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:607271
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Tachycardia, Palpitations, Weight loss	OMIM:188580
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastroin...	ORPHA:1572
Malignant Peritoneal Mesothelioma	Neoplasm, Peritonitis, Ascites, Weight loss	ORPHA:168811
Joubert Syndrome 1	Hepatic fibrosis	OMIM:213300
Joubert Syndrome 8	Hepatomegaly, Prolonged neonatal jaundice	OMIM:612291
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Reticular Dysgenesis	Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypoplasia of the...	ORPHA:33355
Metachromatic Leukodystrophy, Late Infantile Form	Cholecystitis	ORPHA:309256
Livedoid Vasculopathy	Pancytopenia, Diabetes mellitus, Leukocytosis, Hyperhomocystinemia, Abnormal circulating lipid co...	ORPHA:542643
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Incr...	OMIM:105600
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Atrial fibrillation, Keratitis, Spleno...	ORPHA:525731
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:33577
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated alkaline phosphatase of bone origin, Elevated circulating cr...	ORPHA:411634
Familial Osteodysplasia, Anderson Type	Hyperuricemia, Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility t...	ORPHA:2769
Timothy Syndrome	Hypocalcemia	OMIM:601005
Transketolase Deficiency	Hepatomegaly, Seborrheic dermatitis, Patent ductus arteriosus, Uveitis, Secondary amenorrhea, Con...	ORPHA:488618
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Nephroblastoma, Ascites	OMIM:253250
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elbow contracture, Annular pancreas, Knee flexion contracture, Sclerosis of skull base, Elevated ...	OMIM:618162
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone ...	ORPHA:2968
Cronkhite-Canada Syndrome	Hepatomegaly, Splenomegaly, Diarrhea, Hamartomatous polyposis, Neoplasm, Anemia	ORPHA:2930
Estrogen Resistance	Osteopenia, Elevated alkaline phosphatase of bone origin	OMIM:615363
Williams Syndrome	Hypercalcemia, Elevated circulating creatine kinase concentration, Sudden cardiac death, Myocardi...	ORPHA:904
Hyperparathyroidism, Transient Neonatal	Osteopenia, Recurrent fractures, Subperiosteal bone formation, Elevated circulating alkaline phos...	OMIM:618188
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph...	ORPHA:100075
Metachromatic Leukodystrophy, Juvenile Form	Cholecystitis	ORPHA:309263
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:608779
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Chilblains, Splenomegaly, Vasculitis, Cardiomyopathy...	OMIM:225750
Vacterl/Vater Association	Abnormality of the pancreas, Abnormality of the gallbladder, Cavernous hemangioma, Cryptorchidism	ORPHA:887
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Patent ductus arteriosus, Brady...	OMIM:617397
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin lev...	ORPHA:90791
Steinfeld Syndrome	Absent gallbladder	OMIM:184705
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase	OMIM:254700
Listeriosis	Liver abscess, Granulomatosis, Conjunctivitis, Cholecystitis, Vomiting, Infectious encephalitis, ...	ORPHA:533
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Vasculitis, Diarr...	ORPHA:343
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Diarrhea, Lymphoma, Uveitis, Lymphadenopathy...	ORPHA:36412
Glycosylphosphatidylinositol Biosynthesis Defect 25	Low alkaline phosphatase, Ankle flexion contracture	OMIM:619985
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Abnormal...	ORPHA:75249
Glutaric Acidemia I	Reduced peroxisomal glutaryl-CoA oxidase activity, Elevated circulating glutaric acid concentrati...	OMIM:231670
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom...	OMIM:607625
Alström Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi...	ORPHA:64
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Majeed Syndrome	Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi...	ORPHA:77297
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly	ORPHA:2971
Metachromatic Leukodystrophy, Adult Form	Cholecystitis, Orthostatic hypotension due to autonomic dysfunction, Neoplasm of the gallbladder	ORPHA:309271
Peritoneal Cystic Mesothelioma	Peritonitis, Neoplasm, Weight loss	ORPHA:168816
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast...	ORPHA:379
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Tricuspid regurgitation, Hepatic fibrosis, Hamartoma of tongue	OMIM:263520
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Infantile Nephropathic Cystinosis	Hypokalemia, Rickets, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Ascites, Hepatosplenomegaly	OMIM:608776
Ménétrier Disease	Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypopro...	ORPHA:2494
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Rheumatoid Arthritis	Vasculitis, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, High-out...	OMIM:187300
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Weight loss, Lymphadenopathy, Neoplasm, Neoplasm of the breast, Neoplasm of the...	ORPHA:2221
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato...	ORPHA:99931
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Eiken Syndrome	Delayed ossification of carpal bones, Delayed epiphyseal ossification, Delayed tarsal ossificatio...	OMIM:600002
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Pulmonary embolism, Perianal abscess, Hyperlipidemia, J...	ORPHA:444490
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Abnormality of alkaline phosphatase level	OMIM:619356
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Hamartoma of tongue, Splenomegaly, Periportal fibrosis, Hypoplastic nipples, Ascites	OMIM:269860
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Recurrent fractures, Craniosynostosis, Increased blood urea nitrogen	ORPHA:251004
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ...	ORPHA:3206
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Elevated circulatin...	ORPHA:97287
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiac arrest	OMIM:604377
Diencephalic Syndrome	Neoplasm of the nervous system, Cachexia, Decreased body weight	ORPHA:1672
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Hypercholesterolemia, Leukocytosis, Hyperglycemia	ORPHA:90065
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Orofaciodigital Syndrome I	Hamartoma of tongue, Pancreatic cysts, Ovarian cyst, Hypertension, Hepatic fibrosis, Hypothalamic...	OMIM:311200
Chronic Hiccup	Weight loss	ORPHA:396
Diaphanospondylodysostosis	Nephroblastomatosis, Abnormal liver lobulation, Enlarged kidney	OMIM:608022
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Weight loss, Hypertrophic cardiomyopathy, Failure to thrive, Anemia	ORPHA:1842
Trisomy 8P	Cryptorchidism, Heart murmur, Neuroblastoma, Aplasia/Hypoplasia of the gallbladder, Constipation,...	ORPHA:264450
Combined D-2- And L-2-Hydroxyglutaric Aciduria	Hepatomegaly	OMIM:615182
Ogden Syndrome	Cardiomegaly, Microvesicular hepatic steatosis, Ventricular tachycardia, Iron deficiency anemia, ...	OMIM:300855
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Hyperkalemia, Hypoglyce...	ORPHA:361
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Increased susceptibility to fracture...	ORPHA:2909
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hyperlipid...	OMIM:232240
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly	OMIM:618541
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Pneumonia, Splenomegaly, Lymphadenopathy, Neoplasm, Chronic otiti...	ORPHA:169090
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Bicarbonaturia, Increased susceptibility to fractures, Hypophosphatem...	ORPHA:3337
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Elevated circulating creatine kinase concentration, Cachexia	ORPHA:1933
Occipital Horn Syndrome	Jaundice, Hepatitis, Cholestasis, Esophagitis, Bruising susceptibility, Exostoses	ORPHA:198
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy, Dysphagia	OMIM:252930
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Rectal abscess, Elevated circulating C-reactive protein concentration	OMIM:116920
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbladder, Pulmonic stenosis, In...	ORPHA:2255
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Low alkaline phosphatase, Join...	ORPHA:369837
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Cardiomyopathy, Familial Hypertrophic, 4	Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrioventricular block, Car...	OMIM:115197
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hyp...	OMIM:601678
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Shock, Maculopapular exanthema, Skin rash, Elevated circulating C-...	ORPHA:319213
Poikiloderma With Neutropenia	Skin rash, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent pneumonia,...	OMIM:604173
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Distal Xq28 Microduplication Syndrome	Patent ductus arteriosus, Neonatal hyperbilirubinemia	ORPHA:293939
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Fasciitis, Myositis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Congestive heart failure, Thrombocytopenia, Recurrent pneumonia, Enla...	OMIM:617303
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Recurrent skin infections, Herpes simplex encephalitis, Arteritis, Recurrent aphtho...	OMIM:233600
Joubert Syndrome 37	Hepatomegaly, Decreased testicular size, Cryptorchidism	OMIM:619185
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
Degcags Syndrome	Hepatomegaly, Tachycardia, Pancytopenia, Pneumonia, Congenital hypoplastic anemia, Oral-pharyngea...	OMIM:619488
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Isaacs Syndrome	Weight loss	ORPHA:84142
Scheie Syndrome	Splenomegaly, Hepatomegaly, Rhinitis, Aortic regurgitation	ORPHA:93474
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Elevated total serum tryptase, Increased ...	ORPHA:94059
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Hypercalcemia, Osteoporosis, Hypophosphatemia, Pancreatitis	ORPHA:99880
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Tachycardia, Weight loss	OMIM:613239
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hemolytic anemia, Myositis, Skin rash, G...	ORPHA:809
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Generalized joint laxity, Decreased calvarial ossification, Thin bony c...	OMIM:613848
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Hennekam Syndrome	Splenomegaly, Hypocalcemia, Camptodactyly of finger, Craniosynostosis	ORPHA:2136
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Specific Granule Deficiency 1	Low neutrophil alkaline phosphatase	OMIM:245480
Pauci-Immune Glomerulonephritis	Granulomatosis, Elevated circulating creatinine concentration, Pancreatitis	ORPHA:93126
Glutaric Acidemia Type 3	Elevated circulating glutaric acid concentration, Abnormality of circulating enzyme level	ORPHA:35706
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Jaundice, Hyperkalemia	ORPHA:90790
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Hypercalcemia, Osteoporosis, Hypophosphatemia, Pancreatitis	ORPHA:143
Takayasu Arteritis	Hypertensive crisis, Myocardial infarction, Vasculitis, Weight loss, Hypertension, Cerebral ische...	ORPHA:3287
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Mechanical ileus, Tricuspid stenosis, Chronic noninf...	ORPHA:100079
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage...	ORPHA:276621
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest...	ORPHA:75566
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Aredyld Syndrome	Splenomegaly, Hepatomegaly, Refractory anemia with ringed sideroblasts	ORPHA:1133
Congenitally Uncorrected Transposition Of The Great Arteries	Hepatomegaly, Tachycardia, Cardiac shunt, Cardiomegaly, Congestive heart failure, Patent ductus a...	ORPHA:860
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Neutropenia	ORPHA:163956
Williams-Beuren Syndrome	Hypercalcemia, Portal hypertension, Hypertension, Mitral regurgitation, Chronic constipation, Gas...	OMIM:194050
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Constipation, Bradycardia, Ectopic thyroid, Hyperbilir...	OMIM:218700
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia	ORPHA:93941
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Abnormality of circulating enzyme level, Anemia	ORPHA:93598
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Prolonged bleeding following procedure, Inflammation of the large intestine, Periodontitis, Hepat...	ORPHA:79259
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Postprandial hype...	ORPHA:79102
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl...	ORPHA:2658
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa...	OMIM:619167
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia	OMIM:229700
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids	OMIM:619769
Neuroblastoma, Susceptibility To, 1	Abdominal mass, Ganglioneuroblastoma, Weight loss, Hypertension, Neuroblastoma, Failure to thrive...	OMIM:256700
Dubowitz Syndrome	Eczema, Chronic diarrhea, Gastroesophageal reflux, Otitis media, Hypocholesterolemia, Episodic vo...	OMIM:223370
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Finger symphalangism, Synostosis inv...	ORPHA:221016
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Diarrhea, Vomiting	OMIM:560000
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function, Cardiomyopathy	OMIM:614922
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Reduced beta-hexosaminidase activity, Cardiomegaly, Hepato...	OMIM:268800
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Vasculitis, Hypotension, Pancreatitis	ORPHA:70578
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Finger symphalangism	ORPHA:221008
Complete Atrioventricular Septal Defect	Hepatomegaly, Abnormal EKG, Left-to-right shunt, Tachycardia, Cardiomegaly, Right ventricular fai...	ORPHA:1329
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Cavernous hemangioma, Pulmonic stenosis, Pul...	OMIM:616028
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hepatic calcification, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany	ORPHA:73224
Lynch Syndrome	Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Benign neoplasm of ...	ORPHA:144
Alg9-Cdg	Hepatomegaly, Tricuspid regurgitation, Diarrhea, Periportal fibrosis, Hypoplasia of the ovary, Vo...	ORPHA:79328
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615356
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Leukocytosis, Weight loss, Hypotension, Multiple myeloma, Arrhythmia, ...	ORPHA:188
Glycosylphosphatidylinositol Biosynthesis Defect 11	Elevated circulating alkaline phosphatase concentration	OMIM:616025
Oculodentodigital Dysplasia	Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger	ORPHA:2710
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex	OMIM:309583
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Recurr...	OMIM:214500
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Abnormality of alkaline phosphatase level, Elevated circulating cr...	OMIM:137920
Aapoaiv Amyloidosis	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration	ORPHA:439232
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Left unicoronal synostosis, Elevated circulating alkaline phosphatase concentration	OMIM:614749
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Xq12-Q13.3 Duplication Syndrome	Low alkaline phosphatase, Elevated circulating creatine kinase concentration	ORPHA:314389
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo...	ORPHA:167
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Abnorm...	ORPHA:280365
Lig4 Syndrome	Hepatomegaly, Telangiectasia of the skin, Cryptorchidism, Lymphoma, Acute leukemia	ORPHA:99812
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss	ORPHA:1979
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Trisomy 10P	Absent gallbladder, Gastroesophageal reflux, Dysphagia	ORPHA:171929
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Hurler-Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Splenomegaly, Mitral regurgitation, Pulmonary arterial hypert...	OMIM:607015
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Aortic regurgitation, Osteomyelitis, Congestive heart failure, Jau...	OMIM:619475
Hereditary Pheochromocytoma-Paraganglioma	Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hyperca...	ORPHA:29072
Vascular Malformation, Primary Intraosseous	Elevated circulating alkaline phosphatase concentration	OMIM:606893
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Hydrocele testis, Gastroesophageal reflux, Hypoplastic nipp...	OMIM:620186
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Elevated circulating alkaline phosphatase concentration, Delayed ossification of carpal bones	OMIM:239300
Allergic Bronchopulmonary Aspergillosis	Pulmonary arterial hypertension, Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Cryptorchidism, Congenital hepatic fibrosis, Pan...	ORPHA:564
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Macrocephaly/Autism Syndrome	Splenomegaly, Hepatomegaly, Recurrent otitis media, Hydrocele testis	OMIM:605309
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration	OMIM:606056
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E...	OMIM:619355
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder	ORPHA:3186
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Splenomegaly, Rickets, Reduced blood urea nitrogen, Hypophosphatemia,...	OMIM:219800
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Hamartoma of tongue	OMIM:617925
Immunodeficiency 36 With Lymphoproliferation	B-cell lymphoma, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis, Chronic lympha...	OMIM:616005
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Hypotension	ORPHA:369873
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Liposarcoma	Sarcoma, Weight loss	ORPHA:69078
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Vasculitis, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:324964
Kaufman Oculocerebrofacial Syndrome	Constipation, Hypocholesterolemia	OMIM:244450
Juvenile Sialidosis Type 2	Hepatomegaly, Visceromegaly, Dysphagia, Hepatosplenomegaly	ORPHA:93399
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra...	ORPHA:747
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Arrhythmia, Cachexia	ORPHA:157973
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero...	ORPHA:168558
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Erythrokeratodermia Variabilis	Neoplasm of the skin, Weight loss	ORPHA:317
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea, Diarrhea, H...	OMIM:260920
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Bradycardia, Hypotension	ORPHA:70587
Essential Thrombocythemia	Transient ischemic attack, Myocardial infarction, Myelodysplasia, Splenomegaly, Abnormal platelet...	ORPHA:3318
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Purpura, Epistaxis, Splenomegaly, Congestive heart fai...	ORPHA:33226
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss	ORPHA:99868
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero...	ORPHA:289548
Gm1-Gangliosidosis, Type I	Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Vacuolated lymphocy...	OMIM:230500
Liddle Syndrome	Hypokalemia	ORPHA:526
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Hyperammonemia, Weight loss	ORPHA:79242
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hyperaldosteronism	OMIM:605635
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Cachexia, Ascites, Hypertension, Hypoalbuminemia, Failure to thrive	OMIM:610965
Adrenocortical Carcinoma	Adrenocortical carcinoma, Increased body weight, Weight loss, Hypertension, Hypokalemia, Palpitat...	ORPHA:1501
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia,...	OMIM:275350
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hypertrophic cardiomyopathy, Diffuse hepatic steatosis, Decreased liver function	ORPHA:436271
Nipah Virus Disease	Infectious encephalitis, Hypotension	ORPHA:99825
Sialuria	Splenomegaly, Hepatomegaly, Hypoplastic nipples	OMIM:269921
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Huntington Disease-Like 2	Weight loss	OMIM:606438
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Elevated circulating alkaline phosphatase concentration	OMIM:615716
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Skin rash, Neoplasm of the skin	ORPHA:53715
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Anaplastic Thyroid Carcinoma	Neoplasm of the skeletal system, Weight loss, Neoplasm of the lung, Malignant neoplasm of the cen...	ORPHA:142
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hepatic hemangioma, Recurrent aspiration pneumonia	ORPHA:73230
Huntington Disease	Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss	ORPHA:399
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Mosaic Trisomy 9	Asplenia, Cryptorchidism, Patent ductus arteriosus, Abnormal liver lobulation	ORPHA:99776
Cog5-Cdg	Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Hepatosplenomegaly	ORPHA:263487
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Igg4-Related Aortitis	Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:449400
Opsismodysplasia	Splenomegaly, Hepatomegaly	ORPHA:2746
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus, Patent ductus arteriosus	OMIM:619480
Congenital Sialidosis Type 2	Hepatomegaly, Abnormal EKG, Hepatosplenomegaly, Telangiectasia, Ascites, Petechiae	ORPHA:93400
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Moynahan Syndrome	Cachexia	ORPHA:2574
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Campomelia, Cumming Type	Pancreatic cysts, Hepatomegaly, Myelodysplasia, Abnormality of the pancreas	ORPHA:1318
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Raynaud phenomenon, Bronchiectasis, Keratoconjunctivitis sicca, ...	ORPHA:79128
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Gastrointestinal hemorrhage, Pericarditis, Angina pectoris, Elev...	ORPHA:93672
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Weight loss, Abnormal left ve...	ORPHA:3208
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Pulmonic stenosis	OMIM:600001
Graves Disease, Susceptibility To, 1	Abnormal abdomen morphology, Congestive heart failure, Weight loss	OMIM:275000
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia	OMIM:145001
Amish Lethal Microcephaly	Hepatomegaly	ORPHA:99742
Gitelman Syndrome	Neoplasm of the pancreas, Hypermagnesemia, Gout, Hypokalemia, Hypocalcemia, Hypomagnesemia, Prima...	ORPHA:358
Hirschsprung Disease	Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss	ORPHA:388
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness	OMIM:277600
Kagami-Ogata Syndrome	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Pulmonic stenosis, Pulmonary arterial hyper...	OMIM:608149
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Decreased iduronate sulfatase level, Splenomegaly, Congestive heart failure, Recurr...	OMIM:309900
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Megaloblastic anemia, Jaundice, Hyperamm...	ORPHA:79282
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Patent ductus art...	OMIM:610505
Inflammatory Bowel Disease 11	Hematochezia, Weight loss	OMIM:191390
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Decreased liver function	OMIM:614863
Ring Chromosome 13 Syndrome	Retinoblastoma, Hypoplasia of the gallbladder	ORPHA:96176
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Splenomegaly, Recurrent p...	OMIM:608233
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Abnormality of th...	ORPHA:97214
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Hypertrophic car...	OMIM:220110
Multiple Sulfatase Deficiency	Splenomegaly, Hepatomegaly	ORPHA:585
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Mitral stenosis	OMIM:231005
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Tetrasomy 9P	Absent gallbladder, Pericarditis, Myositis, Raynaud phenomenon, Cryptorchidism, Jaundice, Pilomat...	ORPHA:3310
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response	OMIM:620114
Xylt1-Cdg	Hepatomegaly, Acne	ORPHA:370930
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex	OMIM:612731
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
East Syndrome	Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Gastroesophageal reflux, Dysphagia, Recurrent aspiration pneu...	OMIM:230900
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Difficulty walking	ORPHA:320406
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Uveitis, Hypertension, Conjunctiviti...	ORPHA:90321
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia	OMIM:618056
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Diarrhea, Neutropenia, Steatorrhea, Hyperechogenic pancreas, Thr...	OMIM:617941
Turcot Syndrome With Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi...	ORPHA:99818
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Hypertrophic cardiomyopathy, Vomiting	ORPHA:2609
Developmental And Epileptic Encephalopathy 95	Joint laxity, Hepatomegaly, Multiple joint contractures, Low alkaline phosphatase, Elevated circu...	OMIM:618143
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:214700
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Transient ischemic attack, E...	ORPHA:365
Hermansky-Pudlak Syndrome 10	Splenomegaly, Hepatomegaly, Neutropenia	OMIM:617050
Spondyloocular Syndrome	Osteopenia, Thin bony cortex	OMIM:605822
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Cat Eye Syndrome	Patent ductus arteriosus, Biliary atresia, Pulmonic stenosis	OMIM:115470
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Apparent Mineralocorticoid Excess	Left ventricular hypertrophy, Hypokalemia, Abnormality of circulating cortisol level, Decreased c...	ORPHA:320
Scrub Typhus	Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Hypotension, Infectious encephalitis	ORPHA:83317
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of ...	ORPHA:464329
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote...	ORPHA:449285
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Low plasma c...	ORPHA:255210
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Intestinal obstruction, Skin rash, Myocardial infarction, Or...	ORPHA:342
Familial Adenomatous Polyposis 1	Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor...	OMIM:175100
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Hyperammonemia, Hyperprolinemia...	OMIM:615751
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cryptorchidism, Hypertension, Gastroesophageal reflux, Hyperbilirubinemia, Prolonged neonatal jau...	OMIM:210710
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Chronic diarrhea	OMIM:617140
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Ascites, Hepatic failure, Petechiae...	OMIM:608013
Multiple Sulfatase Deficiency	Splenomegaly, Hepatomegaly	OMIM:272200
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Recurrent fractures, Osteomalacia, Joint stiffness, Hypoammonemia, Joint hyperflexi...	ORPHA:534
Frank-Ter Haar Syndrome	Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly	OMIM:249420
Ectopic Aldosterone-Producing Tumor	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Decreased circulating renin l...	ORPHA:231632
Geleophysic Dysplasia 2	Hepatomegaly, Tricuspid stenosis, Mitral regurgitation, Aortic valve stenosis, Pulmonary arterial...	OMIM:614185
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Pulmonary embolism, Int...	ORPHA:394
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Autosomal Dominant Polycystic Kidney Disease	Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Elevated circulating creatinine concen...	ORPHA:730
Cutaneous Mastocytoma	Telangiectasia of the skin, Maculopapular exanthema, Hypotension, Telangiectasia macularis erupti...	ORPHA:79455
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Increased circulating cortiso...	ORPHA:231625
Autosomal Dominant Epidermolytic Ichthyosis	Conjunctival hamartoma, Weight loss	ORPHA:312
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Riboflavin Transporter Deficiency	Hypertension, Cachexia	ORPHA:97229
Doors Syndrome	Thrombocytosis	ORPHA:79500
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Gardner Syndrome	Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M...	ORPHA:79665
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Primary hyperaldosteronism, Hypokalemia, Left ventricular hypertrophy, Decreased circulating reni...	OMIM:615474
Spondyloepimetaphyseal Dysplasia, Shohat Type	Splenomegaly, Hepatomegaly	OMIM:602557
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia	OMIM:602722
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Osteogenesis Imperfecta	Osteopenia, Recurrent fractures, Fractures of the long bones, Osteoarthritis, Flexion contracture...	ORPHA:666
Gm1 Gangliosidosis	Splenomegaly, Congestive heart failure, Weight loss, Hepatosplenomegaly, Cardiomyopathy, Decrease...	ORPHA:354
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Aspartylglucosaminuria	Hepatomegaly, Joint stiffness, Splenomegaly, Arthritis, Abnormal cortical bone morphology	ORPHA:93
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone ...	OMIM:602782
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Hydroxykynureninuria	Stomatitis, Tachycardia, Hypotension	ORPHA:79155
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Ataxia	OMIM:616881
Geleophysic Dysplasia 3	Hepatomegaly, Mitral regurgitation, Pneumonia	OMIM:617809
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Angina pectoris, Elevated circulating growth hormone...	ORPHA:79318
Weill-Marchesani Syndrome 2	Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex, Joint stiffness	OMIM:608328
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Rabson-Mendenhall Syndrome	Enlarged ovaries, Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insul...	ORPHA:769
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Decreased circulating renin l...	ORPHA:231580
Wolf-Hirschhorn Syndrome	Cryptorchidism, Abnormality of the gallbladder, Abdominal situs inversus, Chronic otitis media, H...	ORPHA:280
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Left ventricular hypertrophy,...	ORPHA:251274
Familial Hyperaldosteronism Type Ii	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Dexamethasone-suppressible pr...	ORPHA:404
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Right ventricular failure, Abnormal circulating calcium concentration, Increased pu...	ORPHA:60025
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C...	OMIM:256040
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Systolic heart murmur, Right ventricular hyp...	ORPHA:555874
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar op...	ORPHA:90340
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Mediastinal lymphadenopathy, Vasculitis, Weight lo...	ORPHA:397
Infant Botulism	Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Chronic otitis media	ORPHA:178478
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Hepatomegaly, Chronic diarrhea, Splenomegaly	OMIM:612132
Cap Polyposis	Hematochezia, Weight loss	ORPHA:160148
Familial Hyperaldosteronism Type I	Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism	ORPHA:403
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Weight loss	OMIM:605543
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Mcdonough Syndrome	Cachexia	ORPHA:2471
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Distal Renal Tubular Acidosis	Hemolytic anemia, Hypokalemia, Aminoaciduria	ORPHA:18
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Thin bony cortex	OMIM:619727
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia, Weight loss	ORPHA:3165
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss, Lymphadenopathy	ORPHA:411703
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Ataxia, Broad-based gait, Dystonia	ORPHA:438216
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Smith-Lemli-Opitz Syndrome	Facial capillary hemangioma, Cryptorchidism, Patent ductus arteriosus, Abnormality of the gallbla...	ORPHA:818
Beckwith-Wiedemann Syndrome	Cardiomegaly, Leiomyosarcoma, Neoplasm, Hepatoblastoma, Polycythemia, Hepatomegaly, Cryptorchidis...	ORPHA:116
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Hypocalciuric Hypercalcemia, Familial, Type Ii	Pancreatitis, Hypermagnesemia, Hypercalcemia	OMIM:145981
Carney-Stratakis Syndrome	Gastrointestinal stroma tumor, Gastrointestinal hemorrhage, Paraganglioma, Weight loss	ORPHA:97286
Mercury Poisoning	Hypertension, Interstitial pneumonitis, Tachycardia, Hypotension	ORPHA:330021
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia, Recurrent hypoglycemia, Decreased circulating cortisol level	OMIM:620305
Christianson Syndrome	Cachexia	ORPHA:85278
Hypocalciuric Hypercalcemia, Familial, Type I	Pancreatitis, Hypermagnesemia, Hypercalcemia	OMIM:145980
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Idiopathic Bronchiectasis	Myocardial infarction, Cachexia	ORPHA:60033
Plague	Hepatomegaly, Tachycardia, Chapped lip, Skin rash, Hematemesis, Splenomegaly, Lymphadenitis, Eryt...	ORPHA:707
Monosomy 13Q34	Hepatic steatosis, Hypercalcemia	ORPHA:96168
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Adrenocortical carcinoma, Car...	OMIM:130650
Glossopharyngeal Neuralgia	Schwannoma, Jaw claudication, Weight loss, Neoplasm, Syncope, Bradycardia	ORPHA:221098
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, Subcutaneous lipoma, Cachexia, Hamartomatous poly...	ORPHA:79076
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Splenomegaly, Ileus, Constipation, Arrhythmia	ORPHA:163746
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia	ORPHA:52503
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C...	ORPHA:137675
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Cardiomegaly, Asplenia, Patent ductus arteriosus, Biliary atresia, Abdominal situs ...	OMIM:306955
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi...	ORPHA:99147
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Weig...	ORPHA:679
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia, Hyperglycemia	ORPHA:293987
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Eosinophilia, Myocardial infarcti...	ORPHA:183
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Transient ischemic attack, Gastroparesis, Chronic diarrhea, Ischemic stroke, ...	ORPHA:500150
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abnormality of...	ORPHA:36426
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Boudin-Mortier Syndrome	Joint laxity, Elevated alkaline phosphatase of bone origin	OMIM:619543
Meningococcal Meningitis	Skin rash, Shock, Infectious encephalitis, Hypotension	ORPHA:33475
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Distal Deletion 12Q	Late onset atopic dermatitis, Unilateral cryptorchidism, Pituitary adenoma, Patent ductus arterio...	ORPHA:96149
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Leprechaunism	Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Hypokalemia, Hyperaldostero...	ORPHA:508
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Renpenning Syndrome	Cachexia	ORPHA:3242
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Epistaxis, Abnormal number of alpha granules	OMIM:139090
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein ...	ORPHA:420741
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Inability to walk, Exaggerated startle response	OMIM:617864
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Microcytic anemia, Leukocytosis, Anemia	ORPHA:99843
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Leukocytosis, Hepatic steatosis	OMIM:619321
Pituitary Adenoma 4, Acth-Secreting	Glucose intolerance, Hypokalemia, Impaired glucose tolerance	OMIM:219090
Developmental And Epileptic Encephalopathy 80	Elevated circulating alkaline phosphatase concentration	OMIM:618580
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Patent ductus arteriosus, Cardiomyopathy, Neoplasm, Hypoplastic n...	ORPHA:480880
Geleophysic Dysplasia 1	Hepatomegaly, Tricuspid stenosis, Congestive heart failure, Aortic valve stenosis, Mitral stenosis	OMIM:231050
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism	ORPHA:369929
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:607364
Hyperphosphatasia-Intellectual Disability Syndrome	Elevated circulating alkaline phosphatase concentration	ORPHA:247262
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Tricuspid regurgitation, Eleva...	OMIM:619127
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hypotension	ORPHA:91354
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochloremia, Neonatal hypogly...	ORPHA:90794
Bullous Pemphigoid	Weight loss	ORPHA:703
Niemann-Pick Disease Type C	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom...	ORPHA:646
Yao Syndrome	Pericarditis, Weight loss	OMIM:617321
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardi...	OMIM:164310
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Sudden cardiac...	ORPHA:537
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath...	OMIM:181000
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Esoph...	ORPHA:1018
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Hypocalcemia	OMIM:620330
Tay-Sachs Disease	Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Gait disturbance, Dystonia, L...	ORPHA:845
Mucolipidosis Type Ii	Aortic regurgitation, Abnormal atrioventricular valve physiology, Splenomegaly, Weight loss, Hepa...	ORPHA:576
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Pulmonary arterial hypertension, Thrombocytopenia	ORPHA:77261
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism	OMIM:613090
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis	ORPHA:764
Serotonin Syndrome	Hypertension, Tachycardia, Hepatic failure, Hypotension	ORPHA:43116
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym...	OMIM:603041
Japanese Encephalitis	Hyponatremia, Neutrophilia	ORPHA:79139
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Angina pectoris, Cachexia, Visceral angiomatosis, Lymphoma, Telan...	ORPHA:109
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Paternal Uniparental Disomy Of Chromosome 6	Cryptorchidism, Hepatomegaly, Patent ductus arteriosus, Cardiomegaly	ORPHA:96191
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Hypotension, Telangiectasia	ORPHA:454831
Peters-Plus Syndrome	Cryptorchidism, Biliary tract abnormality, Bilobate gallbladder, Pulmonic stenosis	OMIM:261540
African Trypanosomiasis	Hepatomegaly, Pericarditis, Abnormal EKG, Abnormality of the menstrual cycle, Keratitis, Splenome...	ORPHA:3385
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mitral regurgitation, Dilated cardiomyopathy, Mildly elevated creatine kinase, Weight loss	OMIM:607459
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:280000
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss, Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Elevated circulating alkaline phosphatase concentration	OMIM:614207
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating cortisol level, Decreased circulating renin level	ORPHA:90795
Chromosome 5Q12 Deletion Syndrome	Hypotension	OMIM:615668
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia, Telangiectasia of the skin, Myoc...	ORPHA:221
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Glomerulonephritis, Myocardial infarct...	ORPHA:90068
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Elevated serum 11...	OMIM:201750
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Congenital hepatic fibrosis, Abnormal pelvis bone ossification, Absent or minimally ossified vert...	ORPHA:93271
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thickened cortex of long bones	ORPHA:488434
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Hepatoerythropoietic Porphyria	Hemolytic anemia, Abnormal circulating enzyme concentration or activity, Recurrent bacterial skin...	ORPHA:95159
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Abnormality of alkaline phosphatase level, Limited elbow extension, Delayed ossific...	OMIM:300106
Tetrasomy 12P	Cachexia	ORPHA:884
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Stuve-Wiedemann Syndrome 1	Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Camptodac...	OMIM:601559
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Insulinoma, Pancreatic islet cell adenoma, Hypercalcemia	OMIM:131100
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating cortisol level, Increased circulating corticosterone level, De...	ORPHA:90793
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Congenital Disorder Of Glycosylation, Type Iim	Gastroesophageal reflux, Neonatal hyperbilirubinemia	OMIM:300896
Malt Lymphoma	B-cell lymphoma, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Anemia	ORPHA:52417
Choreoacanthocytosis	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	ORPHA:2388
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Pemphigus Vulgaris	Weight loss	ORPHA:704
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Renal Tubular Dysgenesis	Hypotension	OMIM:267430
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Epistaxis, Weight loss, Cardiomyopathy, Basal cell carcinoma, Squamo...	ORPHA:79430
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Lymphadenitis, Myocarditis, Weight loss, Pancreatitis, A...	ORPHA:31205
Post-Traumatic Pituitary Deficiency	Hypotension	ORPHA:95619
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Pulmonary arterial hypertension, Cryptorchidism	OMIM:620025
Perry Syndrome	Weight loss	OMIM:168605
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level	OMIM:202010
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary...	ORPHA:117
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic endoc...	ORPHA:99889
8P23.1 Microdeletion Syndrome	Hypertrophic cardiomyopathy, Obesity, Weight loss	ORPHA:251071
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Weight loss, Syncope, Anemia	ORPHA:71273
Oromandibular Dystonia	Weight loss	ORPHA:93958
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ...	ORPHA:89938
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Increased circulating creatine...	ORPHA:466677
Infantile Krabbe Disease	Abnormal heart rate variability, Abnormal circulating enzyme concentration or activity, Failure t...	ORPHA:206436
Multiple Endocrine Neoplasia Type 2	Joint laxity, Neoplasm of the liver, Hypercalcemia	ORPHA:653
Fatal Familial Insomnia	Weight loss	OMIM:600072
Poliomyelitis	Hypertension, Hypovolemic shock, Hypotension, Infectious encephalitis, Myelitis	ORPHA:2912
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Hyperaldosteronis...	OMIM:241200
Rett Syndrome	Abnormal T-wave, Prolonged QTc interval, Cachexia	OMIM:312750
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Splenomegaly, Hepatomegaly, Patent ductus arteriosus, Hamartoma	OMIM:617088
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Elevated circulating alkaline phosphatase concentration	OMIM:618548
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Hypertrophic cardiomyopathy, Slender build, Ane...	ORPHA:1328
Nelson Syndrome	Secondary hypercortisolism, Hypokalemia, Increased circulating cortisol level, Type II diabetes m...	ORPHA:199244
Isolated Permanent Neonatal Diabetes Mellitus	Hypovolemia, Weight loss, Pancreatic hypoplasia, Failure to thrive, Reduced pancreatic beta cells	ORPHA:99885
Short Syndrome	Weight loss	ORPHA:3163
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cachexia	ORPHA:220295
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Pheochromocytoma	Hypercalcemia	OMIM:171300
Pde4D Haploinsufficiency Syndrome	Hypotension	ORPHA:439822
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Hypoglycemia, Increased circulating cortisol level	ORPHA:786
Charge Syndrome	Hypocalcemia	OMIM:214800
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Splenopancreatic fusion, Sclerosis of skull base, Hepatoblastoma...	OMIM:269150
Hennekam-Beemer Syndrome	Arrhythmia, Telangiectasia of the skin, Pneumonia, Hypotension	ORPHA:2135
Hellp Syndrome	Elevated hepatic transaminase, Cerebral hemorrhage, Internal hemorrhage, Hypotension	ORPHA:244242
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Cachexia, Rhabdomyosarcom...	ORPHA:647
Erdheim-Chester Disease	Retroperitoneal fibrosis, Congestive heart failure, Anemia, Weight loss	ORPHA:35687
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Cachexia, Odontogenic neoplasm, Decreased bod...	ORPHA:800
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight loss, Gra...	OMIM:608710
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Congestive heart failure, Weight loss, Hypertension, Hypokalemia, Pa...	ORPHA:91347
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Weight loss, Exocrine pancreatic insufficiency	ORPHA:309031
Generalized Arterial Calcification Of Infancy	Elevated alkaline phosphatase of bone origin, Osteomalacia, Hepatic calcification, Abnormal calci...	ORPHA:51608
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism	OMIM:602522
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Acrodermatitis Enteropathica	Failure to thrive, Weight loss	ORPHA:37
Nocardiosis	Pericarditis, Liver abscess, Lymphadenitis, Peritonitis, Weight loss	ORPHA:31204
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Dystonia	ORPHA:521426
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Wolf-Hirschhorn Syndrome	Accessory spleen, Cryptorchidism, Hemangioma, Biliary tract abnormality	OMIM:194190
Sotos Syndrome	Joint laxity, Hip contracture, Hypercalcemia, Ankle flexion contracture, Craniosynostosis, Bilate...	ORPHA:821
Leukemia, Chronic Myeloid	Reduced leukocyte alkaline phosphatase	OMIM:608232
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Myelodysplasia, Thrombocytopenia, Weight loss, Leukop...	ORPHA:84
Hereditary Late-Onset Parkinson Disease	Orthostatic hypotension due to autonomic dysfunction, Weight loss	ORPHA:411602
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cachexia, Splenomegaly, Retinal hemorrhage, Hyperten...	ORPHA:191
X-Linked Intellectual Disability, Cabezas Type	Obesity, Cachexia	ORPHA:85293
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Alexander Disease	Hypotension, Hypertension, Infectious encephalitis, Sudden cardiac death	ORPHA:58
Proteus Syndrome	Thymus hyperplasia, Cachexia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged...	ORPHA:744
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Pituitary Apoplexy	Hypertension, Hypotension	ORPHA:95613
Proximal Renal Tubular Acidosis	Hypokalemia, Aminoaciduria, Bicarbonaturia, Glycosuria	ORPHA:47159
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Weight loss, Thrombocytopenia, Lymphadenopathy	ORPHA:79078
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cryptorchidism, Patent ductus arteriosus, Cavernous hemangioma of the face, Bil...	OMIM:268300
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My...	ORPHA:740
Non-Functioning Pituitary Adenoma	Hypotension	ORPHA:91349
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypotension	ORPHA:93256
Reactive Arthritis	Aortic regurgitation, Pericarditis, Weight loss	ORPHA:29207
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Prolactinoma	Hypotension	ORPHA:2965
Goodpasture Syndrome	Weight loss, Pulmonary hemorrhage, Anemia, Increased blood urea nitrogen	OMIM:233450
17Q11 Microdeletion Syndrome	Osteopenia, Thickened cortex of long bones, Osteolysis, Osteoporosis	ORPHA:97685
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Tachycardia, Tricuspid regurgitation, Right ventricular failure, Cardiomegaly, Pate...	ORPHA:99125
Trisomy 18	Cachexia	ORPHA:3380
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Pancytopenia, Ascites, Weight loss	ORPHA:99921
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Weight loss	ORPHA:2020
Seckel Syndrome	Cachexia	ORPHA:808
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Inability to walk, Exaggerated startle response, Broad-based gait, Dystonia	ORPHA:438213
Marfan Syndrome	Congestive heart failure, Slender build, Cachexia	ORPHA:558
Stickler Syndrome	Arrhythmia, Slender build, Cachexia	ORPHA:828
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522
Norrie Disease	Vascular neoplasm, Neoplasm of the eye, Failure to thrive, Cachexia	ORPHA:649
Vascular Ehlers-Danlos Syndrome	Hypokalemia, Cystocele	ORPHA:286
Non-Acquired Panhypopituitarism	Hypotension	ORPHA:90695
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us