Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
decreased erythrocyte cell number Dusp16em1(IMPC)Tcp HOM Early adult 2.81×10-09
abnormal uterus morphology Dusp16em1(IMPC)Tcp HOM Early adult 0.00
decreased circulating HDL cholesterol level Dusp16em1(IMPC)Tcp HOM Early adult 6.77×10-05
enlarged spleen Dusp16em1(IMPC)Tcp HOM Early adult 0.00
abnormal bone structure Dusp16em1(IMPC)Tcp HOM   Early adult 4.86×10-06
decreased body length Dusp16em1(IMPC)Tcp HOM Early adult 1.71×10-05
enlarged lymph nodes Dusp16em1(IMPC)Tcp HOM Early adult 0.00
increased circulating bilirubin level Dusp16em1(IMPC)Tcp HOM Early adult 5.36×10-07
decreased hemoglobin content Dusp16em1(IMPC)Tcp HOM Early adult 4.45×10-05
decreased prepulse inhibition Dusp16em1(IMPC)Tcp HOM   Early adult 4.09×10-05
decreased hematocrit Dusp16em1(IMPC)Tcp HOM   Early adult 1.34×10-05
increased mean corpuscular hemoglobin Dusp16em1(IMPC)Tcp HOM Early adult 7.15×10-05
increased spleen weight Dusp16em1(IMPC)Tcp HOM Early adult 1.32×10-06
increased heart weight Dusp16em1(IMPC)Tcp HOM Early adult 9.50×10-05

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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.

Eye Morphology

Images Ophthalmoscopy

60 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Histopathology

Images

8 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

6 Images

X-ray

XRay Images Skull Dorso Ventral 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
phenotypes
Matching phenotypes Source
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Hepatomegaly, Jaundice, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu... OMIM:613673
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Jaundice, Increased serum bile acid concentration, Portal fibrosis, Increased total... OMIM:619868
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hepatomegaly, Anemia, Jaundice, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Increased total iron binding capacity, Increased serum bile acid concentration, Iro... OMIM:616278
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Malaria
Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration ORPHA:673
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... OMIM:616649
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Decreased skull ossification, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac sep... ORPHA:3319
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... OMIM:182900
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Neonatal hyperbilirubin... OMIM:618892
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ... OMIM:224120
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Hepatomegaly, Reduced red cell pyruvate kinase level, Reduced haptoglob... OMIM:266200
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Jaundice, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Cholestasis-Lymphedema Syndrome
Cirrhosis, Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, N... OMIM:214900
Beta-Thalassemia
Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Reduced bone mineral densi... ORPHA:848
Hypercholanemia, Familial, 2
Osteopenia, Prolonged neonatal jaundice, Increased serum bile acid concentration, Unconjugated hy... OMIM:619256
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Conjugated hyperbilirubi... OMIM:269920
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unco... OMIM:300908
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ... ORPHA:64743
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis OMIM:118830
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Jaundice, Lymphadenopathy, Thromboc... OMIM:603552
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... OMIM:601775
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal... ORPHA:288
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He... OMIM:607616
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Hemophagocyt... OMIM:267700
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Hepatomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice, Giant cell hep... OMIM:607765
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Osteoporosis, Splenomegaly, Abnormal B cell count, Osteolysis ORPHA:100024
Rh Deficiency Syndrome
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy... ORPHA:71275
Hereditary Spherocytosis
Hepatomegaly, Anemia, Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Increased circulating iron concentration, Spleno... OMIM:613313
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal... ORPHA:79234
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Jaundice, Thrombocytopenia, Splenomegaly, Conjugated hyperbilirubinemia, He... ORPHA:294
Rotor Syndrome
Hyperbilirubinemia, Jaundice, Intermittent jaundice, Conjugated hyperbilirubinemia ORPHA:3111
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... OMIM:211600
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly ORPHA:100025
Cyanosis, Transient Neonatal
Jaundice, Hepatomegaly, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ... OMIM:613101
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia OMIM:237500
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:235555
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase... OMIM:611881
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Anemia, Jaundice, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Jaundice, Pancytopenia, Lymphadenop... OMIM:603553
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Steatorrhea, Hepatomegaly, Jaundice, Giant cell hepatitis, Hyperbilirubinemia, Cholestas... ORPHA:79303
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Cystic Echinococcosis
Cholestatic liver disease, Hepatomegaly, Jaundice, Splenic cyst, Abnormal peritoneum morphology, ... ORPHA:400
Isolated Polycystic Liver Disease
Increased total bilirubin, Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease ORPHA:2924
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar... ORPHA:846
Biliary Atresia, Extrahepatic
Cirrhosis, Hepatomegaly, Jaundice, Portal fibrosis, Hyperbilirubinemia, Unconjugated hyperbilirub... OMIM:210500
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Jaundice, Hepatomegaly, Ascites ORPHA:890
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis ORPHA:713
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancyto... OMIM:259720
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Portal... OMIM:605814
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Elliptocytosis 2
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:130600
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating creatine kinase concentration, Reti... OMIM:232800
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Beta-Thalassemia Intermedia
Reduced bone mineral density, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decrea... ORPHA:231222
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Rh-Null, Regulator Type
Stomatocytosis, Jaundice, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Reduced bone mineral density, Hypocalcemia, Cholestasis, Splenomegaly ORPHA:172
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Hypermanganesemia With Dystonia 1
Cirrhosis, Hepatomegaly, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, ... OMIM:613280
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Cirrhosis, Acholic stools, Hyperbi... OMIM:613812
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... OMIM:209950
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Hypogonadism, Micropenis, Neonatal hyperbilirubinemia, Cryptorchidism ORPHA:3363
Bile Acid Conjugation Defect 1
Rickets, Jaundice, Hepatomegaly, Conjugated hyperbilirubinemia OMIM:619232
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Bile duct proliferation, Hepatosplenomegaly ORPHA:79302
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating... OMIM:620282
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Rickets of the lower limbs ORPHA:882
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Jaundice, Periportal fibrosis, Hyperbilirubinemia, Ascites, Portal hypertension, He... OMIM:251880
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenome... OMIM:612840
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Wolcott-Rallison Syndrome
Hepatomegaly, Jaundice, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Ascites, Hyper... ORPHA:1667
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Calvarial hyper... OMIM:612714
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Leukocytosis, Splenomegaly ORPHA:37748
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... OMIM:613011
Galactosemia Iii
Jaundice, Hepatomegaly, Splenomegaly, Hypergalactosemia OMIM:230350
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Ascites, Polycystic liver disease OMIM:174050
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocyto... OMIM:611490
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit... OMIM:243300
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra... OMIM:616828
Relapsing Fever
Jaundice, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased ... ORPHA:91547
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hepatomegaly, Jaundice, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis... OMIM:608885
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... OMIM:271500
Gilbert Syndrome
Jaundice, Unconjugated hyperbilirubinemia OMIM:143500
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly... OMIM:300635
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Ventricular hypertrophy... OMIM:618278
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Portal fibrosis, Hyperbilirubinemia... OMIM:614300
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Increased circulating iron concentration, S... OMIM:602390
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva... OMIM:620632
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Hepatomegaly, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating... OMIM:618398
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated... OMIM:615559
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Sp... OMIM:602450
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Hyperammonemia, Thrombocytopenia, Splenomegal... ORPHA:79312
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hepatic steat... OMIM:612526
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Mye... ORPHA:457077
Sitosterolemia 1
Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat... OMIM:210250
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow h... OMIM:618849
Burkitt Lymphoma
Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, Decreased proportion of ... ORPHA:543
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Congenital Toxoplasmosis
Hepatomegaly, Anemia, Jaundice, Lymphadenopathy, Ascites, Thrombocytopenia, Cardiomegaly ORPHA:858
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Hypospadias, Hypoplasia of penis, Ascites, Splenomegaly ORPHA:1046
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ... OMIM:613179
Tangier Disease
Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Or... ORPHA:31150
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly, Hypercholesterolemia ORPHA:75234
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Abetalipoproteinemia
Osteopenia, Steatorrhea, Hepatomegaly, Anemia, Decreased HDL cholesterol concentration, Cirrhosis... ORPHA:14
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Increased serum pyruvate, Cardiomyopathy, Hyperalaninemia, Splenomegaly, Hyper... OMIM:619046
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi... OMIM:619375
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hepatomegaly, Jaundice, Microvesicular hepatic steatosis, Cholestasis, Increased to... OMIM:618528
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Reduced bone mineral density, Abnormality of the lymphatic sys... ORPHA:1414
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi... OMIM:226990
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Osteoporosis, Mastocytos... ORPHA:98848
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Jaundice, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome... ORPHA:79477
Caroli Syndrome
Cirrhosis, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholangitis, Pancreatitis, Liver abs... ORPHA:480520
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Osteoporosis, Biliary tract abnormality, Splenomegaly, Neonata... ORPHA:79301
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Lathosterolosis
Anisopoikilocytosis, Bilobate gallbladder, Ambiguous genitalia, male, Intrahepatic cholestasis, H... OMIM:607330
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop... OMIM:620603
Proteus Syndrome
Calvarial hyperostosis, Mandibular hyperostosis, Lymphangioma, Facial hyperostosis, Splenomegaly,... OMIM:176920
Ziegler-Huang Syndrome
Macrocytic anemia, Persistence of hemoglobin F, Bone marrow hypocellularity, Hypogonadism, Crypto... OMIM:620501
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Cholelithiasis, Hyperbilirubinemia, Elevated circulating long ... OMIM:614886
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Hepatomegaly, Jaundice, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr... OMIM:308240
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Hepatomegaly, Anemia, Decreased HDL cholesterol concentration,... OMIM:278000
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Giant cell hepatitis, Intrahepatic biliary atresia, Patent f... OMIM:208085
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hepatomegaly, Refractory sideroblastic anemia, Anemia, Pancytopenia, Hyperbilirubine... OMIM:557000
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Hepatomegaly, Jaundice, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h... ORPHA:567983
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Caroli Disease
Cirrhosis, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Liver a... ORPHA:53035
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration OMIM:611762
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ... ORPHA:824
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperglutaminemia, Hyperprolinemia OMIM:616299
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiomyopathy, Ascites, Osteopor... OMIM:235200
Autoimmune Hepatitis
Cirrhosis, Jaundice, Sclerosing cholangitis, Acute hepatitis, Fulminant hepatitis, Hepatocellular... ORPHA:2137
Fish-Eye Disease
Lymphadenopathy, Decreased HDL cholesterol concentration, Hepatomegaly, Splenomegaly ORPHA:79292
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158061
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ... ORPHA:234
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl... OMIM:619151
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Hepatomegaly, Jaundice, Cholelithiasis, Conjugated hyperbilirubinemia OMIM:605479
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbili... ORPHA:95717
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Hyperuricemia OMIM:261750
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Cirrhosis, Hepatocellular carcinoma, Splen... OMIM:613490
Graft Versus Host Disease
Jaundice, Hemophagocytosis, Lymphadenopathy, Acute hepatitis, Hyperbilirubinemia, Chronic hepatit... ORPHA:39812
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Dominant Beta-Thalassemia
Cirrhosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Jaundice, Decreased me... ORPHA:231226
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating C-reactive protein co... ORPHA:54251
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology ORPHA:545
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8... OMIM:150550
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Hepatomegaly, Jaundice, Cirrh... ORPHA:186
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Congenital Erythropoietic Porphyria
Osteopenia, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Osteop... ORPHA:79277
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Hepatomegaly, Hypochromic microcytic anemia, Abnormality of iron ... ORPHA:231214
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia, Prolonged neona... OMIM:214950
Hereditary Cryohydrocytosis With Reduced Stomatin
Jaundice, Spontaneous hemolytic crises, Hepatosplenomegaly, Conjugated hyperbilirubinemia, Stomat... ORPHA:168577
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Reduced bone mineral density, Leukopenia, Splenomegaly, Lymphopenia, Ventricular se... OMIM:620210
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Wolman Disease
Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly ORPHA:75233
Babesiosis
Hepatomegaly, Jaundice, Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia ORPHA:108
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Ascites, Hypocholesterolemia, Pericardial effusion, Splenomegaly, Hypoalbuminemia, ... OMIM:608776
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Wilson Disease
Cirrhosis, Hepatomegaly, Anemia, Decreased circulating ceruloplasmin concentration, Portal fibros... OMIM:277900
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Lymphadenitis, Cardiomegaly, Increased circulating ferritin concentration, ... OMIM:618886
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Gaucher Disease Type 1
Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Osteolysis, Pancytope... ORPHA:77259
Chronic Bilirubin Encephalopathy
Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt... ORPHA:529799
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the lower limbs, Hyperbilirubinemia, Osteolysis involving bones of ... ORPHA:464321
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase ... OMIM:618838
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Anemia, Jaundice, Elevated circulating C-reactive protein concentration, Congenital... OMIM:620376
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem... OMIM:612561
Senior-Boichis Syndrome
Cirrhosis, Anemia, Cholestasis, Ascites, Portal hypertension, Increased total bilirubin, Hepatosp... ORPHA:84081
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly ORPHA:664
Liver Failure, Infantile, Transient
Hepatomegaly, Macrovesicular hepatic steatosis, Jaundice, Hyperbilirubinemia, Microvesicular hepa... OMIM:613070
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi... ORPHA:95715
Reynolds Syndrome
Steatorrhea, Hepatomegaly, Calcinosis, Jaundice, Hyperbilirubinemia, Cholestasis, Biliary cirrhos... OMIM:613471
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Griscelli Syndrome
Abnormal circulating lipid concentration, Hepatomegaly, Jaundice, Lymphadenopathy, Ascites, Bone ... ORPHA:381
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Ambiguous genitalia,... OMIM:250790
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Isolated Biliary Atresia
Xanthelasma, Cirrhosis, Hepatomegaly, Jaundice, Periportal fibrosis, Cholestasis, Bile duct proli... ORPHA:30391
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame... OMIM:254450
Fanconi-Bickel Syndrome
Rickets, Hepatomegaly, Intrahepatic cholestasis, Increased serum bile acid concentration, Hypokal... OMIM:227810
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Red... ORPHA:1451
Transaldolase Deficiency
Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Patent foramen ovale, Hepati... OMIM:606003
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Hepatomegaly, Jaundice, Giant cell hepatitis, Conjugated hyperbilirubi... OMIM:613404
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Osteoporo... OMIM:257200
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid concentration, Jaund... OMIM:602347
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Intrahepatic cholestasis, Increased serum bile acid concentration, Bilateral ... OMIM:619685
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis ORPHA:391
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Hypocalcemia, Increa... OMIM:259700
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Congenital Rubella Syndrome
Hepatomegaly, Anemia, Jaundice, Thrombocytopenia, Splenomegaly, Atrial septal defect, Ventricular... ORPHA:290
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Pancreatitis, Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hypona... ORPHA:90038
Sickle Cell Disease
Hepatomegaly, Jaundice, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno... ORPHA:93476
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia, Craniosynostosis ORPHA:88643
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Elevated circulating creatinine concentration, Macrovesicular hepa... OMIM:608836
Hardikar Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Jaundi... OMIM:301068
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Neuraminidase Deficiency
Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopath... OMIM:256550
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Abnormal heart morphology, Thrombocytopenia,... ORPHA:398124
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Hypoproteinemia, Ascites, Biliary hyperplasia, Hyperammon... OMIM:619991
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Jaundice, Clitoral ... OMIM:614866
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemoglobin, Decreased me... OMIM:616943
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Cryptorchidism, Thrombocytopenia, Absent g... ORPHA:163979
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso... ORPHA:3226
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hepatomegaly, Osteoporosis, Elevated circulating phytanic acid concentration, Hypoch... OMIM:266510
Adult-Onset Still Disease
Myocarditis, Abnormal circulating lipid concentration, Hepatomegaly, Anemia, Generalized lymphade... ORPHA:829
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Chylomicron Retention Disease
Steatorrhea, Acanthocytosis, Hypocholesterolemia, Hepatic steatosis, Increased hepatocellular lip... ORPHA:71
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Jaundice, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Pericarditis, Bone marrow ... ORPHA:47612
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis ORPHA:3318
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Hepatomegaly, Anemia, Portal fibrosis, Cirrhosis, C... ORPHA:264580
Fumarase Deficiency
Perimembranous ventricular septal defect, Intrahepatic cholestasis, Hyperbilirubinemia, Ascites, ... OMIM:606812
Mcleod Syndrome
Hepatomegaly, Reduced haptoglobin level, Cardiomyopathy, Elevated circulating creatine kinase con... OMIM:300842
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:263400
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Osteolytic defects of the phalanges of the hand, Splenomegaly, ... OMIM:228000
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Delayed proximal f... ORPHA:95716
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymp... OMIM:617591
Castleman Disease
Jaundice, Anemia, Mediastinal lymphadenopathy, Elevated circulating C-reactive protein concentrat... ORPHA:160
Gray Platelet Syndrome
Myelofibrosis, Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Intrahepatic Cholestasis Of Pregnancy
Jaundice, Abnormality of the pancreas, Increased serum bile acid concentration, Hyperbilirubinemi... ORPHA:69665
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly OMIM:609981
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp... OMIM:618935
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ... ORPHA:86843
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Cholestatic liver disease, Hepatomegaly, Anemia, Hemophagocytosis, Jaundice... ORPHA:540
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Cryptorchidism OMIM:619075
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi... ORPHA:85414
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit ORPHA:284227
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Hepatomegaly, Anemia, Cirrhosis, Hepatocellular car... ORPHA:79240
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Decreased circulating cortisol level, Cholestasis OMIM:609734
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Periportal fibrosis OMIM:619484
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Osteoporosis, Neonatal hyperbilirubinemia ORPHA:73272
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut... OMIM:238600
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Jaundice, Hepatomegaly, Intrahepa... OMIM:614887
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Cirrhosis, Reduced bone mineral density, Anemia, Pancytopenia, Hypocalcemia,... OMIM:613658
Squalene Synthase Deficiency
Hypospadias, Increased circulating farnesol concentration, Elevated circulating methylsuccinic ac... OMIM:618156
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Ascites, Hyperammonemia, Elevated circulating alpha-fetoprotein concentratio... OMIM:617049
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers... OMIM:230800
Attrv122I Amyloidosis
Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo... ORPHA:85451
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Hypertyrosinemia, Hyperbilirubinemia, Microvesicular hepatic steatosis, Chol... OMIM:617156
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly OMIM:252920
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol... OMIM:613027
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly... ORPHA:39041
Shwachman-Diamond Syndrome 1
Steatorrhea, Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Irregular ossification a... OMIM:260400
Degcags Syndrome
Abnormal spleen morphology, Cholestasis, Pulmonic stenosis, Leukopenia, Craniosynostosis, Congeni... OMIM:619488
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Joubert Syndrome 33
Splenomegaly OMIM:617767
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Cholestasis, Progressive Familial Intrahepatic, 9
Intrahepatic cholestasis, Hepatomegaly, Jaundice, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia, Micropenis, Hydrocele testis OMIM:618810
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Neu... OMIM:612852
Cranioectodermal Dysplasia 2
Hepatomegaly, Portal fibrosis, Cholangitis, Hyperbilirubinemia, Patent foramen ovale, Cholestasis... OMIM:613610
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Increased size of nasopharyngeal adenoids, Atrial septal defect, Ventricular septal defect, Persi... OMIM:619769
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Cryptorchidism, Microcytic anemia, Hypospadias ORPHA:98791
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Decreased LDL cholester... ORPHA:96180
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Ascite... OMIM:615710
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hepatomegaly, Hyperglutamatemia, Increased serum pyr... ORPHA:3008
Wilson Disease
Cirrhosis, Hepatomegaly, Anemia, Jaundice, Acute hepatitis, Hepatitis, Thrombocytopenia, Splenome... ORPHA:905
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Steatorrhea, Hepatomegaly, Cardiomyopathy, Hepatic fibrosis, Hypergonadotropic hypogo... OMIM:212065
Paroxysmal Nocturnal Hemoglobinuria
Jaundice, Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentrat... ORPHA:447
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Hypoproteinemia, Cardiomyopathy, Leukocytosis, Elevated ci... OMIM:615895
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hyperuricemia, Hyperalaninemia, Neonatal hyperbilirubinemia, Hepatic steatosis ORPHA:348
Agammaglobulinemia, X-Linked
Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho... OMIM:300755
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Hepatomegaly, Hypocalcemic seizures, Delayed epiphyseal ossification, Hypocalcemia, Card... ORPHA:289157
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Hypoproteinemia, Pancreatic lymph... ORPHA:1655
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Jaundice, Iro... OMIM:300855
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale, Hypocholesterolemia OMIM:610883
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Sclerosis of hand bone, Pericardial effusi... ORPHA:2905
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Hepatocellular carcinoma, Cardiomyopath... ORPHA:465508
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:153670
Prolidase Deficiency
Hepatomegaly, Anemia, Prolonged neonatal jaundice, Thrombocytopenia, Splenomegaly OMIM:170100
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Lymphadenopathy, Decreased circula... ORPHA:85450
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Leukocytosis, Spleno... ORPHA:77297
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Reduced bone mineral de... OMIM:617052
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Jaundice, Intrahepatic cholestasis, Hyperammonemia, Conjugated hyperbilirubinemia, Decreased seru... OMIM:617093
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega... OMIM:612783
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperuricemia, Hypertrophic cardiomy... ORPHA:79083
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Patent foramen ovale, Cryptorchidism, Mitral stenosis, Tetralogy of Fallot, Neonatal... ORPHA:163956
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Multiple Myeloma
Osteopenia, Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circ... ORPHA:29073
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Poly... ORPHA:2348
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, Dy... OMIM:618280
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:3162
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ... ORPHA:90041
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:617388
Infantile Liver Failure Syndrome 3
Hepatomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Splenomegaly, Hep... OMIM:618641
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Neonatal hyperbilirubinemia ORPHA:293939
Adams-Oliver Syndrome 6
Truncus arteriosus, Portal hypertension, Splenomegaly, Hepatic fibrosis, Ventricular septal defect OMIM:616589
Gaucher Disease Type 3
Hepatomegaly, Anemia, Pancytopenia, Increased bone mineral density, Abnormal heart valve morpholo... ORPHA:77261
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Ascites, Biliary... OMIM:619534
Lead Poisoning
Abnormal T cell morphology, Cranial hyperostosis, Decreased HDL cholesterol concentration, Anemia... ORPHA:330015
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia OMIM:618394
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Hypocalcemic seizures, Hepatomegaly, Anemia, Abnormal trabecular bone morphology, ... OMIM:612301
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hepatitis, Pericarditis, Hyponatremia, Bone... ORPHA:549
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Prolonged neonatal jaundice, Delayed proximal f... ORPHA:90674
Alg12-Cdg
Abnormal bone ossification, Muscular ventricular septal defect, Hypospadias, B lymphocytopenia, P... ORPHA:79324
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia... ORPHA:809
Porphyria, Congenital Erythropoietic
Osteopenia, Hepatomegaly, Jaundice, Cholelithiasis, Elevated circulating uroporphyrin concentrati... OMIM:263700
Chediak-Higashi Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Jaundice, Lymphadenopathy, Leukopenia, Splenomegaly, Impa... OMIM:214500