Gene Summary

dual specificity phosphatase 16
MKP7,  MKP-7,  D6Ertd213e,  3830417M17Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 System Allele Zyg Sex Life Stage P Value
decreased hematocrit Dusp16em1(IMPC)Tcp HOM   Early adult 1.34×10-05
enlarged spleen Dusp16em1(IMPC)Tcp HOM Early adult 0.00
abnormal bone structure Dusp16em1(IMPC)Tcp HOM   Early adult 5.16×10-06
increased spleen weight Dusp16em1(IMPC)Tcp HOM Early adult 1.32×10-06
decreased hemoglobin content Dusp16em1(IMPC)Tcp HOM Early adult 4.45×10-05
increased mean corpuscular hemoglobin Dusp16em1(IMPC)Tcp HOM Early adult 7.15×10-05
decreased body length Dusp16em1(IMPC)Tcp HOM Early adult 4.17×10-05
decreased prepulse inhibition Dusp16em1(IMPC)Tcp HOM   Early adult 2.90×10-06
increased circulating bilirubin level Dusp16em1(IMPC)Tcp HOM Early adult 5.08×10-07
increased heart weight Dusp16em1(IMPC)Tcp HOM Early adult 9.50×10-05
enlarged lymph nodes Dusp16em1(IMPC)Tcp HOM Early adult 0.00
abnormal uterus morphology Dusp16em1(IMPC)Tcp HOM Early adult 0.00
decreased erythrocyte cell number Dusp16em1(IMPC)Tcp HOM Early adult 2.81×10-09
decreased circulating HDL cholesterol level Dusp16em1(IMPC)Tcp HOM Early adult 6.76×10-05

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lacZ Expression

Expression data not available

Associated Images

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



8 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

60 Images

Gross Pathology and Tissue Collection


9 Images


XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

6 Images


XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Dusp16 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.

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

The table below shows human diseases predicted to be associated to Dusp16 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... OMIM:237800
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Hepatomegaly, Abnormal bone structure, Splenomegaly ORPHA:46532
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hyperbilirubinemia, Increased serum bile acid concentration, Cholestasis, Hepatomegaly,... OMIM:620010
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... OMIM:616689
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hypertrophic cardiomyopathy... OMIM:613673
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Cirrhosis, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c... OMIM:619868
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Jaundice, Portal fib... OMIM:616278
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Osteopenia, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Elevated circulating C-reactive protein concentration, Anemia, Thrombocytopenia, Hyperbilirubinemia ORPHA:673
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Spherocytosis, Type 4
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Spherocytosis, Type 2
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp... OMIM:616649
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, ... OMIM:235700
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal cardiac septum morphology, Decreased skull ossification, Thrombocytopenia, Abnor... ORPHA:3319
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Hepatomegaly, Sp... OMIM:185000
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... ORPHA:232
Spherocytosis, Type 1
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp... OMIM:182900
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Intermittent jaun... ORPHA:3202
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Prostate... ORPHA:158057
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... OMIM:224120
Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Neonatal hyperbi... OMIM:618892
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reti... OMIM:266200
Hereditary Elliptocytosis
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... ORPHA:288
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch... ORPHA:848
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Osteopenia, Prolonged neonatal jaundice, Increased serum bile ac... OMIM:619256
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hyperlipidemia, Hepatomegaly, Splenomega... OMIM:214900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Jaundice, Fava bean-induced hemolytic anemia, Reti... OMIM:300908
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration, Hepatomegaly OMIM:619874
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly, Conjugated... OMIM:269920
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Hepatoportal Sclerosis
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Abnormal liver parenchyma morpholo... ORPHA:64743
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... OMIM:601775
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... OMIM:603552
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... OMIM:618963
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia ORPHA:79235
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:607616
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... OMIM:267700
Hemochromatosis, Type 2B
Anemia, Splenomegaly, Cirrhosis, Hepatic fibrosis, Hypogonadism, Elevated transferrin saturation,... OMIM:613313
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly, Hepatomegaly OMIM:619175
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis OMIM:301083
Mu-Heavy Chain Disease
Anemia, Splenomegaly, Abnormal B cell count, Osteolysis, Lymphadenopathy, Hepatomegaly, Osteoporosis ORPHA:100024
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti... ORPHA:822
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Acholic stools, Steatorrhea, Intrahepatic cholestasis, Rickets, Giant cell h... OMIM:607765
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Rh Deficiency Syndrome
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticu... ORPHA:71275
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Glycogen Storage Disease Vii
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... OMIM:232800
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Unconjugated hyperbilirubinemia, Biliary tract abnormality, Neonatal hy... ORPHA:79234
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypogonadism, Elevated transferrin saturation, Azoospermia, Poikilocytosis, Decreased mea... OMIM:615234
Rotor Syndrome
Intermittent jaundice, Storage in hepatocytes, Hyperbilirubinemia, Jaundice, Conjugated hyperbili... ORPHA:3111
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... ORPHA:247598
Cyanosis, Transient Neonatal
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia OMIM:613977
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... OMIM:613101
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Rickets, Osteopenia, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... OMIM:211600
Anemia, Neutropenia, Splenomegaly OMIM:602079
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Hyperbilirubinemia, Steatorrhea, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly OMIM:235555
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Hypocalcemia, Splenomegaly ORPHA:100025
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
Glycogen Storage Disease Xii
Reduced haptoglobin level, Anemia, Normocytic anemia, Hyperbilirubinemia, Jaundice, Elevated circ... OMIM:611881
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Lympha... OMIM:603553
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia ORPHA:228312
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Congenital Bile Acid Synthesis Defect Type 2
Abnormal serum bile acid concentration, Hyperbilirubinemia, Jaundice, Steatorrhea, Rickets, Hepat... ORPHA:79303
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Cystic Echinococcosis
Peritoneal abscess, Hepatic cysts, Abnormality of the testis size, Cholestatic liver disease, Abn... ORPHA:400
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... OMIM:601847
Biliary Atresia, Extrahepatic
Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc... OMIM:210500
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... OMIM:617514
Isolated Polycystic Liver Disease
Increased total bilirubin, Abnormality of the pancreas, Polycystic liver disease, Hepatomegaly ORPHA:2924
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Anisopoikilocytosis, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Ascites, Jaundice, Hepatomegaly ORPHA:890
Osteopetrosis, Autosomal Recessive 5
Anemia, Osteopetrosis, Increased bone mineral density, Hyperbilirubinemia, Hypocalcemia, Pancytop... OMIM:259720
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... OMIM:614470
Hb Bart'S Hydrops Fetalis
Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Sple... ORPHA:231222
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Cirrhosis, Microvesicular hepatic steatosi... OMIM:605814
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly OMIM:608971
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis ORPHA:713
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Elliptocytosis 2
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:130600
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Thrombocytopenia, Osteopetrosis, Splenomegaly OMIM:615085
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Hepatitis, Hyperbilirubinemia, Jaundice, Acholic stools, Steatorrhea, Hepatic bridging... OMIM:613812
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi... OMIM:607685
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:614480
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis OMIM:269600
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Rh-Null, Regulator Type
Stomatocytosis, Jaundice, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Bile duct proliferation, Cholestasis ORPHA:79302
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Cirrhosis, Increased total iron binding capacity, Unconjugated hyperbilirubine... OMIM:613280
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Hyperbilir... OMIM:251880
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... OMIM:209950
Bile Acid Conjugation Defect 1
Rickets, Jaundice, Conjugated hyperbilirubinemia, Hepatomegaly OMIM:619232
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly, Reduced bone mineral density ORPHA:172
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly, Rickets of the lower limbs ORPHA:882
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... OMIM:612840
Wolcott-Rallison Syndrome
Double outlet right ventricle, Abnormality of the liver, Exocrine pancreatic insufficiency, Lymph... ORPHA:1667
Schnitzler Syndrome
Anemia, Increased bone mineral density, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly ORPHA:37748
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615010
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Osteopetrosis, Autosomal Recessive 4
Anemia, Increased bone mineral density, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Osteopet... OMIM:611490
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Ascites, Polycystic liver disease OMIM:174050
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... OMIM:613011
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Jaundice, Steatorrhea, Osteopenia, Hepatomegaly, Calvarial hyp... OMIM:612714
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Jaundice, Cholestasis, Hepatomegaly OMIM:618528
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Increased serum bile acid concentration, Hepatomegaly, Intrahepatic choles... OMIM:243300
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Cholestatic liver disease, Decreased circulating ceruloplasmin concentration, Elevated... OMIM:616828
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Galactosemia Iii
Jaundice, Hypergalactosemia, Splenomegaly, Hepatomegaly OMIM:230350
Relapsing Fever
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Neutrophilia, Elevated circulating C-rea... ORPHA:91547
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Unconjugated hyperbi... OMIM:618278
Hemochromatosis, Type 2A
Splenomegaly, Cirrhosis, Azoospermia, Dilated cardiomyopathy, Increased circulating ferritin conc... OMIM:602390
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice OMIM:143500
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Hemolytic anemia, Jaundice, Hyperkalemia, Hepatomegaly, Splenomegaly, Conjugated ... OMIM:608885
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatome... OMIM:300635
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... ORPHA:507
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... OMIM:618398
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... OMIM:613179
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Generalized lymphadenopathy, Autoimmune thrombocytopenia, Hepatosplenomeg... OMIM:615559
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly ORPHA:2204
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b... OMIM:619658
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... ORPHA:2585
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel... OMIM:602450
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Bone marrow hypocellularity, Increa... OMIM:618849
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Ascites, Splen... OMIM:271500
Tangier Disease
Chronic noninfectious lymphadenopathy, Anemia, Coronary artery stenosis, Left ventricular hypertr... ORPHA:31150
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... OMIM:612526
Immunodeficiency 64 With Lymphoproliferation
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Hepatosplenomegaly, In... OMIM:618534
Congenital Toxoplasmosis
Anemia, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopenia ORPHA:858
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... OMIM:620135
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Hypoplasia of penis, Hypospadias, Ascites, Splenomegaly ORPHA:1046
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Anemia, Decreased LDL cholesterol concentration, Hepatic fibrosis, Cirrhosis, Hyperbilirubinemia,... ORPHA:14
Sitosterolemia 1
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Elevate... OMIM:210250
Glycogen Storage Disease Ixa1
Hyperuricemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly OMIM:306000
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... OMIM:615513
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... OMIM:619375
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly, ... ORPHA:79312
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... OMIM:300853
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund... OMIM:194380
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic fibrosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Elevated circulating alpha-fetopro... OMIM:619662
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... OMIM:226990
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Caroli Syndrome
Leukopenia, Cirrhosis, Periportal fibrosis, Liver abscess, Hypersplenism, Hyperbilirubinemia, Jau... ORPHA:480520
Burkitt Lymphoma
Abnormal lymph node morphology, Hyperuricemia, Abnormality of the pancreas, Abnormality of the li... ORPHA:543
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Osteolysis, Lymphadenopathy, He... ORPHA:100026
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Bilobate gallbladder, Abnormal circulating cholesterol concentration, Anisopoikilocytosis, Ambigu... OMIM:607330
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Indolent Systemic Mastocytosis
Splenomegaly, Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomega... ORPHA:98848
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Pancytopenia, Increased circulating ferritin concentra... OMIM:616050
Proteus Syndrome
Thin bony cortex, Facial hyperostosis, Lymphangioma, Calvarial hyperostosis, Splenomegaly, Mandib... OMIM:176920
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Splenomegaly, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease,... ORPHA:79301
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Abnormality of the male genitalia, Hyperbilirubinemia, Abnormal co... OMIM:614886
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Hyperalaninemia, Increased serum pyruvate, Macrocytic anemia, Hyperprolinemia, Splenomegaly, Card... OMIM:619046
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Intrahepatic biliary atresia, Patent foramen ovale, Ventricular septal defect, Jaundice, Atrial s... OMIM:208085
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Wilson Disease
Anemia, Cirrhosis, Hemolytic anemia, Osteomalacia, Decreased circulating ceruloplasmin concentrat... OMIM:277900
Pearson Marrow-Pancreas Syndrome
Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Sideroblastic ane... OMIM:557000
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Hepatitis, Lymphadenopathy, Inc... ORPHA:158061
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... OMIM:308240
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Leukocytosis OMIM:611762
Griscelli Syndrome Type 2
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hyperlipidemia, Hepatomegaly, Neutrope... ORPHA:79477
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Jaundice, Abnormal circulating ... ORPHA:567983
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Liver absces... ORPHA:53035
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia, Secundum atrial septal defect, Portal fibrosis, Elevated ... OMIM:614300
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Increased hepatic echogenic... OMIM:278000
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Hemochromatosis, Type 1
Splenomegaly, Cirrhosis, Azoospermia, Hepatocellular carcinoma, Testicular atrophy, Osteoporosis,... OMIM:235200
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Unilateral cryptorchidism, Macrocytic anemia, Increased mean corpusc... OMIM:300946
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Myelofibrosis, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis,... OMIM:301078
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Hypopl... OMIM:619151
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia ORPHA:90036
Fish-Eye Disease
Lymphadenopathy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly ORPHA:79292
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Abnormal testis morphology, ... ORPHA:54251
Dubin-Johnson Syndrome
Abnormality of the liver, Jaundice, Biliary tract abnormality, Hepatomegaly, Conjugated hyperbili... ORPHA:234
Graft Versus Host Disease
Hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Chronic hepa... ORPHA:39812
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:610333
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia OMIM:616299
Autoimmune Hepatitis
Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepati... ORPHA:2137
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... ORPHA:231226
Primary Myelofibrosis
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytosis, Leukoc... ORPHA:824
Hepatocellular Carcinoma
Hemobilia, Anemia, Abnormality of the liver, Liver abscess, Hepatic necrosis, Hypokalemia, Hyperb... ORPHA:88673
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy, Hemolytic anemia, Hepatomegaly ORPHA:56425
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... OMIM:603554
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Beta-Thalassemia Major
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... ORPHA:231214
Follicular Lymphoma
Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:545
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia OMIM:605479
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Reduced serum alpha-1-antitrypsin, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly ORPHA:158029
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hyperuricemia, Splenomegaly, Hepatomegaly OMIM:261750
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... ORPHA:79277
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:618495
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration, Intrahepatic cholestasis, Giant cell... OMIM:214950
Wolman Disease
Anemia, Steatorrhea, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly ORPHA:75233
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Spontaneous hemolytic crises, Jaundice, Hepatosplenomegaly, Conjugated hyperbilir... ORPHA:168577
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Pseudo-Torch Syndrome 3
Lymphadenitis, Anemia, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, ... OMIM:618886
Fumarase Deficiency
Hyperbilirubinemia, Polycythemia, Cholestasis OMIM:606812
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Prolonged neonatal... ORPHA:95717
Elliptocytosis 1
Elliptocytosis, Splenomegaly, Hemolytic anemia, Jaundice OMIM:611804
Leukopenia, Hemolytic anemia, Jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:108
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... OMIM:603909
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Acute Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal... ORPHA:529808
Apolipoprotein C-Ii Deficiency
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... OMIM:207750
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase ... OMIM:618838
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... OMIM:615387
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Lymphaden... OMIM:614034
Gaucher Disease, Type Iii
Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatomegaly OMIM:231000
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the liver, Hyperbilirubinemia, Osteolysis involving bones of the upper limbs, Oste... ORPHA:464321
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Jaundice, Hyperbilirubinemia, Hepatomegaly, Macrovesicular hepa... OMIM:613070
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... OMIM:612561
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Ambiguous genitalia, Bifid scrotum, Hypospadias, Male pseudohermaphroditism,... OMIM:250790
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas... OMIM:615122
Senior-Boichis Syndrome
Increased total bilirubin, Anemia, Hepatic fibrosis, Cirrhosis, Malformation of the hepatic ducta... ORPHA:84081
Osteopetrosis, Autosomal Recessive 1
Anemia, Calvarial osteosclerosis, Increased bone mineral density, Hypocalcemia, Pancytopenia, Hep... OMIM:259700
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Jaundice, Giant cell hepatitis, Hepatomegaly, Cholestatic liver diseas... OMIM:613404
Reynolds Syndrome
Biliary cirrhosis, Calcinosis, Hyperbilirubinemia, Jaundice, Lymphopenia, Steatorrhea, Cholestasi... OMIM:613471
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... OMIM:613470
Griscelli Syndrome
Leukopenia, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Abnormality of neutrop... ORPHA:381
Cinca Syndrome
Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Elevated ci... ORPHA:1451
Isolated Biliary Atresia
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Acholic stools, Bile duct prolifer... ORPHA:30391
Gaucher Disease Type 1
Leukopenia, Anemia, Cirrhosis, Pericardial effusion, Hypersplenism, Increased bone mineral densit... ORPHA:77259
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Prolonged neonatal jaundice, Osteoporosis, Lymphadenopathy, Bone-marrow f... OMIM:257200
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Transaldolase Deficiency
Patent foramen ovale, Anemia, Hepatic fibrosis, Cirrhosis, Ventricular septal defect, Pancytopeni... OMIM:606003
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt... OMIM:619824
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly ORPHA:664
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Increased serum bile acid concentration, Hyperbilirubinemia, Intrahepat... OMIM:619685
Congenital Rubella Syndrome
Anemia, Ventricular septal defect, Jaundice, Atrial septal defect, Hepatomegaly, Thrombocytopenia... ORPHA:290
Hardikar Syndrome
Portal inflammation, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Splenomegaly, Patent for... OMIM:301068
Sickle Cell Disease
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Leuko... OMIM:603903
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology, Hepatomegaly ORPHA:2584
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hepatic steatosis, Hypocholesterolemia, Increased hepatocellul... ORPHA:71
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Hepatomegaly, Portal hyperte... OMIM:619463
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Hepatitis, Neutrophilia, Generalized lymphadenopathy, P... ORPHA:829
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... OMIM:602347
Essential Thrombocythemia
Abnormal platelet morphology, Splenomegaly, Myelofibrosis, Acute leukemia ORPHA:3318
Classic Hodgkin Lymphoma
Osteolysis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly ORPHA:391
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Peritonitis, Ret... ORPHA:90038
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Anemia, Ventricular septal defect, Hyperbilirubinemia, Hypocalcemia, Atrial s... ORPHA:163979
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Neuraminidase Deficiency
Epiphyseal stippling, Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lym... OMIM:256550
Hurler-Scheie Syndrome
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morphology, Cardiomy... ORPHA:93476
Felty Syndrome
Anemia, Pericarditis, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thr... ORPHA:47612
Neonatal Lupus Erythematosus
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytop... ORPHA:398124
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Cardiomegaly, Decreased plasma free carnitine, Enlarged kidney, Elevat... OMIM:608836
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli... ORPHA:3226
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Portal inflammation, Elevated circulating alpha-fetoprotein concentr... OMIM:619991
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hepatomegaly, Hypocholesterolemia,... OMIM:266510
Peroxisome Biogenesis Disorder 5A (Zellweger)
Ventricular septal defect, Elevated circulating phytanic acid concentration, Increased circulatin... OMIM:614866
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... OMIM:607594
Tangier Disease
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci... OMIM:205400
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegal... ORPHA:85414
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice, Conjugated hyperbilirubinemia ORPHA:95715
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Hepatocellular adenoma, Abnormal erythrocyte enzyme level, Hepatocel... ORPHA:370
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Neona... ORPHA:95716
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Jaundice,... ORPHA:276
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Farber Lipogranulomatosis
Osteolytic defects of the phalanges of the hand, Osteolysis involving bones of the feet, Lipogran... OMIM:228000
Hyperlipoproteinemia, Type I
Jaundice, Pancreatitis, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemi... OMIM:238600
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Amyloidosis, Familial Visceral
Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Anemia, Hepatic fibrosis, Cirrhosis, Hepatocellular adenoma, Abnormal erythrocyte enzyme level, P... ORPHA:264580
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Bicuspid aortic valve, Bilateral cryptorchidism, Elevate... OMIM:618156
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Myelofibrosis, Abnormal number of alpha granules OMIM:139090
Autoimmune Hemolytic Anemia
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia ORPHA:98375
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... ORPHA:90041
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Hypertriglyceridemia, Splen... OMIM:617591
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Myelofibrosis... ORPHA:86843
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Hemolytic anemia, Lymphopenia, Hepatosplenomegaly, Acute pancreatitis, Lymphadenop... OMIM:618935
Castleman Disease
Anemia, Restrictive cardiomyopathy, Jaundice, Generalized lymphadenopathy, Myelofibrosis, Decreas... ORPHA:160
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... ORPHA:540
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Elevated circulating alpha-fetoprotein concentration, Hyperammonemia, Ascite... OMIM:617049
Immunodeficiency 54
Reduced natural killer cell count, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:609981
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Osteoporosis, Hypogonadism ORPHA:73272
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Decreased circulating cortisol level, Cholestasis OMIM:609734
Mcleod Syndrome
Reduced haptoglobin level, Dilated cardiomyopathy, Elevated circulating creatine kinase concentra... OMIM:300842
Tempi Syndrome
Increased hematocrit, Ascites, Polycythemia ORPHA:284227
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Increased circulating NT-proBNP... ORPHA:85451
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Decreased LDL cholesterol concentration, Pancreatitis, Hyperlipoproteinem... OMIM:615947
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... ORPHA:158048
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Anemia, Hepatic fibrosis, Cirrhosis, Hepatocellular adenoma, Hepatocellular carcinoma, Elevated c... ORPHA:79240
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Cryptorchidism OMIM:619075
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Cirrhosis, Microvesicular hepatic steatosis, Hyperbilirubinemia, Jaundice, Hy... OMIM:617156
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Abnormality of the spleen, Splenomegaly ORPHA:85212
Gaucher Disease, Type I
Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Aortic valve stenosis, Thrombocytopenia, Splen... OMIM:230800
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Pancytopenia, Persis... OMIM:260400
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis OMIM:619484
Peroxisome Biogenesis Disorder 13A (Zellweger)
Jaundice, Increased circulating very long-chain fatty acid concentration, Intrahepatic cholestasi... OMIM:614887
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Anemia, Cirrhosis, Unconjugated hyperbilirubinemia, Pancytopenia, Rickets, Hepa... OMIM:613658
Glycogen Storage Disease Ixc
Cirrhosis, Increased hepatic glycogen content, Bile duct proliferation, Hepatomegaly, Hypertrigly... OMIM:613027
Intrahepatic Cholestasis Of Pregnancy
Abnormality of the pancreas, Jaundice, Hyperbilirubinemia, Cholecystitis, Increased serum bile ac... ORPHA:69665
Omenn Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Eosinophilia, Hepatomegaly, Splenomegaly, Abnormal lymphoc... ORPHA:39041
Splenomegaly, Myelofibrosis, Myeloproliferative disorder OMIM:254450
Joubert Syndrome 33
Splenomegaly OMIM:617767
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Dense calvaria, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Degcags Syndrome
Ambiguous genitalia, Hepatosplenomegaly, Hepatomegaly, Patent foramen ovale, Ventricular septal d... OMIM:619488
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Osteolysis, Periostitis, Elevated circulating C-reactive protein concentration, Ost... OMIM:612852
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Hypospadias, Microcytic anemia, Cryptorchidism ORPHA:98791
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg... OMIM:616100
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:619183
Primary Biliary Cholangitis
Biliary cirrhosis, Abnormal circulating lipid concentration, Hepatic fibrosis, Cirrhosis, Hepatit... ORPHA:186
Cranioectodermal Dysplasia 2
Patent foramen ovale, Biliary cirrhosis, Polysplenia, Hyperbilirubinemia, Left ventricular hypert... OMIM:613610
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Increased size of nasopharyngeal adenoids, Atrial septal defect, Persi... OMIM:619769
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Abnormality of iron homeostasis, Elevated transferrin saturation, Hepatocellular carci... ORPHA:465508
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Hyperbilirubinemia, Acholic stools, C... OMIM:615710
Wilson Disease
Anemia, Cirrhosis, Hepatitis, Jaundice, Hepatic steatosis, Acute hepatitis, Hepatomegaly, Thrombo... ORPHA:905
Nephronophthisis 19
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... OMIM:616217
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Anemia, Hepatic fibrosis, Dilated cardiomyopathy, Elevated circulating creatine ki... OMIM:615895
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Abno... ORPHA:96180
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:169090
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,... ORPHA:447
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Hepatic steatosis, Neonatal hyperbilirubinemia, Hepatomegaly ORPHA:348
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Abno... ORPHA:464329
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Hepatic fibrosis, Pericardial effusion, Steatorrhea, Hepatic steatosis, Pericardi... OMIM:212065
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Hypertrophic cardiomyopathy, Hepatomegaly, Hypocholesterolemia, Micropenis OMIM:618810
Ogden Syndrome
Patent foramen ovale, Microvesicular hepatic steatosis, Ventricular septal defect, Perimembranous... OMIM:300855
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Neonatal hyperbilirubinemia, ... ORPHA:3008
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Ventricular septal defect, Pulmonary lymphangiectasia, Hepato... ORPHA:1655
Agammaglobulinemia, X-Linked
Anemia, T lymphocytopenia, Prostatitis, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral ... OMIM:300755
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:59303
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Chylopericardium, Hepatomegaly, Ascites, Pulmonic stenosis ORPHA:2414
Primary Lipodystrophy
Splenomegaly, Cirrhosis, Hepatic steatosis, Polycystic ovaries, Hyperlipidemia, Pancreatitis, Car... ORPHA:90970
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Increased mean platelet volume OMIM:153670
Biliary, Renal, Neurologic, And Skeletal Syndrome
Atrioventricular canal defect, Biliary cirrhosis, Unbalanced atrioventricular canal defect, Secun... OMIM:619534
Majeed Syndrome
Increased bone mineral density, Hypochromic microcytic anemia, Leukocytosis, Hepatomegaly, Spleno... ORPHA:77297
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatic steatosis, Hypertrophic cardiomyopathy, Polycystic ovaries, Hepatomegaly, H... ORPHA:2348
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentra... OMIM:617388
Potocki-Lupski Syndrome
Hypocholesterolemia, Patent foramen ovale, Atrial septal defect OMIM:610883
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Sézary Syndrome
Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology, Hepatomegaly ORPHA:3162
Gaucher Disease Type 3
Mitral valve calcification, Anemia, Pericardial effusion, Increased bone mineral density, Abnorma... ORPHA:77261
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hyperuricemia, Pancreatitis, Hepatic steatosis, Hypertrophic cardiomyopathy, Polycysti... ORPHA:79083
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Hepatomegaly, C... OMIM:308230
Leydig Cell Hypoplasia
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... ORPHA:755
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
X-Linked Intellectual Disability, Nascimento Type
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Mitral stenosis, ... ORPHA:163956
Chediak-Higashi Syndrome
Leukopenia, Anemia, Jaundice, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Hepat... OMIM:214500
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Neonatal hyperbilirubinemia ORPHA:293939
Adams-Oliver Syndrome 6
Hepatic fibrosis, Truncus arteriosus, Ventricular septal defect, Portal hypertension, Splenomegaly OMIM:616589
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count OMIM:618394
Multiple Myeloma
Anemia, Lymphadenopathy, Hypercalcemia, Osteopenia, Elevated circulating creatinine concentration... ORPHA:29073
Osteopetrosis, Autosomal Recessive 7
Anemia, Abnormal trabecular bone morphology, Hepatomegaly, Hypocalcemic seizures, Osteopetrosis, ... OMIM:612301
Mixed Connective Tissue Disease
Leukopenia, Hemolytic anemia, Pericarditis, Osteolysis, Lymphadenopathy, Hepatomegaly, Mediastina... ORPHA:809
Prolidase Deficiency
Anemia, Prolonged neonatal jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:170100
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Hyperparathyroidism, Neonatal Severe
Anemia, Calcinosis, Hypophosphatemia, Hypercalcemia, Hepatomegaly, Splenomegaly OMIM:239200
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... OMIM:616005
Infantile Liver Failure Syndrome 3
Jaundice, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammonemia, Cholestasis, Hepatomegaly... OMIM:618641
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypogonadism, Mitral valve prolapse, Hypoplasia of penis, Azoospermia, Atrial s... ORPHA:251066
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Jaundice ORPHA:90033
Lead Poisoning
Abnormal T cell morphology, Anemia, Oligospermia, Imbalanced hemoglobin synthesis, Increased LDL ... ORPHA:330015
Legionnaires Disease
Endocarditis, Splenomegaly, Hepatitis, Jaundice, Lymphopenia, Pericarditis, Lymphadenopathy, Bone... ORPHA:549
Patent foramen ovale, Abnormal bone ossification, B lymphocytopenia, Hypocholesterolemia, Hypospa... ORPHA:79324
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... OMIM:231005
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobu... ORPHA:90674
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Splenomegaly, Hepatomegaly OMIM:618541
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Labial hypertrophy, Ventricular septal hypertrophy, Hepatic steatosis, Hypertrophic ca... OMIM:269700
Immunodeficiency 47
Leukopenia, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, Exocrine pancreatic insuffi... OMIM:300972
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Reduced bone mineral density, Midshaft hypospadias, Sex reversal, Decre... ORPHA:168558
Mirizzi Syndrome
Cholesterol gallstones, Hyperbilirubinemia, Jaundice, Cholelithiasis, Abnormality of the ductus c... ORPHA:521219
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Abnormality of the liver, J... ORPHA:309854
Cardiac-Urogenital Syndrome
Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Unilateral cryptorchidism, Biv... OMIM:618280
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cirrhosis, Granulomatous cholangitis, Hyperbilirubinemia, Interface hepatitis, Sclerosing cholang... ORPHA:562639
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Reduced bone mineral density, Midshaft hypospadias, Sex reversal, Decre... ORPHA:289548
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocytosis, Splenomeg... OMIM:616084
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Pulmonic stenosis, Secundum atrial septal defect, C... OMIM:612541
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Hypoplasia of the ut... ORPHA:168563
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, Portal fibrosis, ... OMIM:617394
Triosephosphate Isomerase Deficiency
Hemolytic anemia, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholecystitis, Macrocyti... OMIM:615512
Tyrosinemia, Type I
Hypermethioninemia, Anemia, Cirrhosis, Enlarged kidney, Hepatocellular carcinoma, Elevated circul... OMIM:276700
Glycogen Storage Disease Ib
Splenomegaly, Hyperuricemia, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Pancreatic ... OMIM:232220
American Trypanosomiasis