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
enlarged lymph nodes Dusp16em1(IMPC)Tcp HOM Early adult 0.00
increased spleen weight Dusp16em1(IMPC)Tcp HOM Early adult 8.09×10-07
decreased hemoglobin content Dusp16em1(IMPC)Tcp HOM Early adult 4.45×10-05
increased heart weight Dusp16em1(IMPC)Tcp HOM   Early adult 4.36×10-05
increased circulating bilirubin level Dusp16em1(IMPC)Tcp HOM Early adult 5.08×10-07
decreased hematocrit Dusp16em1(IMPC)Tcp HOM   Early adult 1.36×10-05
decreased erythrocyte cell number Dusp16em1(IMPC)Tcp HOM Early adult 2.81×10-09
enlarged spleen Dusp16em1(IMPC)Tcp HOM Early adult 0.00
decreased prepulse inhibition Dusp16em1(IMPC)Tcp HOM   Early adult 2.90×10-06
abnormal bone structure Dusp16em1(IMPC)Tcp HOM   Early adult 5.16×10-06
increased mean corpuscular hemoglobin Dusp16em1(IMPC)Tcp HOM Early adult 7.15×10-05
abnormal uterus morphology Dusp16em1(IMPC)Tcp HOM Early adult 0.00
decreased circulating HDL cholesterol level Dusp16em1(IMPC)Tcp HOM Early adult 6.76×10-05
decreased body length Dusp16em1(IMPC)Tcp HOM Early adult 3.71×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

60 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

6 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Whole Body 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
phenotypes
Matching phenotypes Source
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia ORPHA:46532
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies OMIM:614164
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cholestasis, Conjugated hyperbilirubinemia, Jaund... OMIM:620010
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... OMIM:616689
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... OMIM:613673
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:619868
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:616860
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal ... OMIM:616278
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Osteopenia, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Malaria
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi... OMIM:616649
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic ane... OMIM:235700
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis... OMIM:185000
Congenital Amegakaryocytic Thrombocytopenia
Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skul... ORPHA:3319
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi... OMIM:182900
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Sc... OMIM:224120
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... OMIM:109270
Harderoporphyria
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolo... OMIM:618892
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Poikilocytosi... ORPHA:288
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Hy... ORPHA:848
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... OMIM:214900
Hypercholanemia, Familial, 2
Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Prolonged n... OMIM:619256
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Osteopenia, Conjugated hyperbilirubinemia, As... OMIM:269920
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Cirrhosis, Hyp... OMIM:607765
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... OMIM:601775
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Throm... OMIM:603552
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Ghosal Hematodiaphyseal Dysplasia
Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly ORPHA:1802
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:79235
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Restrictive cardio... ORPHA:822
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated tra... OMIM:613313
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Osteoporosis, Osteolysis, Anemia, Lymphadenopathy ORPHA:100024
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... ORPHA:71275
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop... OMIM:267700
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal... ORPHA:79234
Glycogen Storage Disease Vii
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Incre... OMIM:232800
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Hyperbilirubinemia, Intermittent jaundice ORPHA:3111
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... OMIM:613101
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Osteopenia, Rickets, Conjugated hyperbilir... OMIM:211600
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Intrahepatic cholestasis, Jaundice OMIM:235555
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Depletion of ... OMIM:251880
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... OMIM:605814
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Glycogen Storage Disease Xii
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ... OMIM:611881
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia, Jaundice OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia OMIM:615085
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Jaundice OMIM:129850
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Extramedullary hematopoiesis... ORPHA:79303
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop... OMIM:603553
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, I... OMIM:601847
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia, Bone... ORPHA:400
Isolated Polycystic Liver Disease
Polycystic liver disease, Increased total bilirubin, Hepatomegaly, Abnormality of the pancreas ORPHA:2924
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis, Neonatal hyperbilirubinemia OMIM:130600
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Anisopoikilocytosis, Anemia, Thrombocytopenia OMIM:617441
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hemato... OMIM:259720
Biliary Atresia, Extrahepatic
Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Increased total bilirubin, Atretic gallbladder, Unco... OMIM:210500
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level, Splenomegaly OMIM:612126
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Hyperbilirubinemia, Pulmonic stenosis, Cholestasis, Hypermethioninemia, Por... OMIM:614300
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia ORPHA:713
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia ORPHA:163596
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Ascites, Hepatomegaly, Jaundice ORPHA:890
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Hypermanganesemia With Dystonia 1
Hepatomegaly, Polycythemia, Cirrhosis, Hypermanganesemia, Unconjugated hyperbilirubinemia, Increa... OMIM:613280
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Unconjugated hyperbilirubinemia, Stomatocytosis OMIM:268150
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Cirrhosis, Hepatosplenomegaly, Cholestasis, Bile duct proliferation, Jaundice ORPHA:79302
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Rickets OMIM:619232
Tyrosinemia Type 1
Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, S... OMIM:612714
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Cholestasis, Jaundice ORPHA:172
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocy... OMIM:611490
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Wolcott-Rallison Syndrome
Double outlet right ventricle, Exocrine pancreatic insufficiency, Hepatomegaly, Atrial septal def... ORPHA:1667
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hepatomegaly, Jaundice, Cholestasis OMIM:618528
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Increased total bilirubin, Ascites OMIM:174050
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... OMIM:613011
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, C... OMIM:616828
Cholestasis, Benign Recurrent Intrahepatic, 1
Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... OMIM:243300
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Galactosemia Iii
Hypergalactosemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... OMIM:618278
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotr... OMIM:602390
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Gilbert Syndrome
Jaundice, Unconjugated hyperbilirubinemia OMIM:143500
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Omenn Syndrome
Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym... OMIM:603554
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:618398
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... OMIM:300635
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased prop... OMIM:615559
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Hypoalb... ORPHA:507
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul... OMIM:613179
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Hepatomegaly, Increased bone mineral density, Splenomegaly ORPHA:2204
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Cholestas... OMIM:619658
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... OMIM:612526
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Cholestasis OMIM:609734
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... OMIM:618849
Splenoportal Vascular Anomalies
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous... OMIM:271500
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Splenomegaly, Hypospadias, Anemia, Ascites ORPHA:1046
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Elevated circ... OMIM:210250
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Tangier Disease
Left ventricular hypertrophy, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Hypertri... ORPHA:31150
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubinemia, Steatorrhea,... ORPHA:14
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemia, Jaundice ORPHA:75234
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Ascites, Anemia, Lymphadenopathy, Jaundice, Cardiomegaly ORPHA:858
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Increas... OMIM:194380
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Caroli Syndrome
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Leukocytosis, Hyperbilirubinemia, Cirrhosis, Leuk... ORPHA:480520
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Osteoporosis, Mastocytosis, Increased ... ORPHA:98848
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... OMIM:300853
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Lathosterolosis
Ambiguous genitalia, male, Hyperbilirubinemia, Hepatosplenomegaly, Anisopoikilocytosis, Osteoporo... OMIM:607330
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Neutropenia, Anemia, Thrombocytopenia, ... ORPHA:79312
Proteus Syndrome
Lymphangioma, Calvarial hyperostosis, Splenomegaly, Thin bony cortex, Mandibular hyperostosis, Fa... OMIM:176920
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Osteolys... ORPHA:100026
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Cirrhosis, Abnormality ... ORPHA:1414
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tract abnormality, Neonatal cholesta... ORPHA:79301
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Intrahepatic cholestasis, Prolonged neona... OMIM:214950
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc... OMIM:615558
Wilson Disease
Increased circulating copper concentration, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cirrh... OMIM:277900
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Sclerosing cholangitis, Cholestasis, Hepatic... OMIM:619662
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Atrial septal defect, Cholestatic liver disease, Right ventricular hypertro... OMIM:208085
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Increased serum pyruvate, Hyperprolinemia, Macrocytic anemia, Hyperalaninemia, Card... OMIM:619046
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Sideroblastic a... OMIM:557000
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Cholelithiasis, Atrial septal defect, Hyperbilirubinemia, Elevated... OMIM:614886
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Elevated circulating C-... OMIM:308240
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... ORPHA:567983
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Elevated circulating C-r... ORPHA:158061
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Ambiguous ... OMIM:250790
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Increased LDL cholesterol concentration, Splenomegaly, Steator... OMIM:278000
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Testicular atrophy, Hepatomegaly, Splenomegaly, Cir... OMIM:235200
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphade... ORPHA:79477
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly OMIM:611762
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Myelofibrosis, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia,... OMIM:301078
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Dubin-Johnson Syndrome
Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice, Abnormality of ... ORPHA:234
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... ORPHA:54251
Fish-Eye Disease
Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acut... OMIM:619151
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Hepa... ORPHA:231226
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Prolonged neonatal... ORPHA:95717
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... ORPHA:231214
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice OMIM:605479
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Reduced serum alpha-1-antitrypsin, Splenomegaly OMIM:613490
Graft Versus Host Disease
Hyperbilirubinemia, Hemophagocytosis, Chronic hepatitis, Hepatosplenomegaly, Acute hepatitis, Lym... ORPHA:39812
Congenital Erythropoietic Porphyria
Splenomegaly, Anisocytosis, Leukopenia, Increased erythrocyte protoporphyrin concentration, Osteo... ORPHA:79277
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice, Hyperkalemia OMIM:608885
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia, Cholestasis OMIM:606812
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Wolman Disease
Hepatomegaly, Splenomegaly, Steatorrhea, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia ORPHA:158029
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... OMIM:150550
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Stomatocytosis, ... ORPHA:168577
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hypokalemia, Hepatomegaly, Hemobilia, Hyperbilirubinemia,... ORPHA:88673
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Babesiosis
Hepatomegaly, Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia, Jaundice ORPHA:108
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto... OMIM:618886
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Reynolds Syndrome
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Calcinosis, Jaundice, Biliary cirrhosis OMIM:613471
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Chronic Bilirubin Encephalopathy
Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Neonatal hyperbili... ORPHA:529808
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Acute Bilirubin Encephalopathy
Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Neonatal hyperbili... ORPHA:529799
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hepatomegaly, Coombs-positive hemolytic anemia, Ele... OMIM:614034
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Senior-Boichis Syndrome
Cirrhosis, Hepatosplenomegaly, Reduced number of intrahepatic bile ducts, Malformation of the hep... ORPHA:84081
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Hypertrophic cardiomyopathy, Osteolysis involving bones of the upper limbs, O... ORPHA:464321
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase concentration,... OMIM:618838
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Atrial septal defect, Persistence of hemoglobin F, Tetralogy o... OMIM:612561
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Hepatomegaly, Increased bone mineral density, Splenomegaly, Craniosynostosis, Osteo... OMIM:259700
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Hepatomegaly, Cholestatic liver disease, Right ventricular hypertrophy, Ven... OMIM:613404
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Thrombocytopeni... ORPHA:381
Cinca Syndrome
Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, ... ORPHA:1451
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... OMIM:619824
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:95715
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Transaldolase Deficiency
Atrial septal defect, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatospleno... OMIM:606003
Isolated Biliary Atresia
Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis, Conjugated hyperbilirubi... ORPHA:30391
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Gaucher Disease Type 1
Hepatomegaly, Increased bone mineral density, Splenomegaly, Cirrhosis, Leukopenia, Osteopenia, Th... ORPHA:77259
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Osteoporosis, Microcytic anemia, Bone-marrow ... OMIM:257200
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly ORPHA:664
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Congenital Rubella Syndrome
Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular septal defect, Anemia, Thrombocytop... ORPHA:290
Hardikar Syndrome
Hepatomegaly, Cholestasis, Ventricular septal defect, Prolonged neonatal jaundice, Bile duct prol... OMIM:301068
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Osteoporosis, Steatorrhea OMIM:266510
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Intrahepatic cholestasis, Hyperbilirubinemia, Increased serum bile acid... OMIM:619685
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein c... ORPHA:829
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Atrial septal defect, Cryptorchidism, Hyperbilirubinemia, Micropenis, Hypospadias, ... ORPHA:163979
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Pancreatitis, Leukocytosis, Peritonitis, Schistocytosis, Elevated circulating creati... ORPHA:90038
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Liver Disease, Severe Congenital
Hydrocele testis, Increased circulating ferritin concentration, Exocrine pancreatic insufficiency... OMIM:619991
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Essential Thrombocythemia
Acute leukemia, Myelofibrosis, Abnormal platelet morphology, Splenomegaly ORPHA:3318
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Epiphyseal stippling, Bone-marrow foam cells,... OMIM:256550
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Osteolysis, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Immunodeficiency 32B
Splenomegaly OMIM:226990
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Hepatomegaly, Elevated circulating long chain fatty acid conce... OMIM:608836
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Felty Syndrome
Hepatomegaly, Splenomegaly, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Osteolysis,... ORPHA:47612
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly, Craniosynostosis ORPHA:88643
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Splenomegaly, Aplastic anemia, Hemolytic anemia, Dilated cardiomyopath... ORPHA:398124
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal heart valve morphology, Cardiomy... ORPHA:93476
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Chylomicron Retention Disease
Steatorrhea, Acanthocytosis, Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepati... ORPHA:71
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... ORPHA:3226
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated circulating creatine ki... ORPHA:370
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Pericarditis, ... ORPHA:85414
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Increased red cell sickling tendency, H... OMIM:603903
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Delayed proximal femoral e... ORPHA:95716
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:240500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Hepatomegaly, Lymphopenia, Abnormally low T cell receptor ... ORPHA:276
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Osteolytic defects of the phalanges of the hand, Osteolysis involving... OMIM:228000
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase concentration, Abnorm... ORPHA:264580
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron... OMIM:238600
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Squalene Synthase Deficiency
Bicuspid aortic valve, Hypospadias, Increased circulating farnesol concentration, Decreased LDL c... OMIM:618156
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Gray Platelet Syndrome
Thrombocytopenia, Abnormal number of alpha granules, Myelofibrosis, Splenomegaly OMIM:139090
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Abnormality of the pancreas, Cholecystitis, Ascites, Jaundice, Increased seru... ORPHA:69665
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia, Lymphade... OMIM:617591
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Myelofibrosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone mar... ORPHA:86843
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Cholestatic liver disease, Hepatomegaly, Hemophagoc... ORPHA:540
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit ORPHA:284227
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Osteoporosis, Hypogonadism ORPHA:73272
Mcleod Syndrome
Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, D... OMIM:300842
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Acute pancre... OMIM:618935
Immunodeficiency 54
Lymphadenopathy, Hepatomegaly, Reduced natural killer cell count, Splenomegaly OMIM:609981
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... ORPHA:85451
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated circulating creatine ki... ORPHA:79240
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d... ORPHA:158048
Hyperlipoproteinemia, Type Id
Pancreatitis, Hyperlipoproteinemia, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concent... OMIM:615947
Bachmann-Bupp Syndrome
Cryptorchidism, Hyperbilirubinemia OMIM:619075
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, ... OMIM:613027
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Steatorrhea, Persistence of hemoglo... OMIM:260400
Castleman Disease
Decreased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Myelofi... ORPHA:160
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periportal fibrosis OMIM:619484
Fetal Gaucher Disease
Hepatomegaly, Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia ORPHA:85212
Omenn Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia, L... ORPHA:39041
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Dense calvaria, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Degcags Syndrome
Hepatomegaly, Craniosynostosis, Osteopenia, Cholestasis, Ventricular septal defect, Ambiguous gen... OMIM:619488
Myelofibrosis
Myeloproliferative disorder, Myelofibrosis, Splenomegaly OMIM:254450
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated alpha-fetoprotein, Cirrhosis, Conjugated hyperbilirubinemia, Ascites, Ja... OMIM:617049
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Cirrhosis, Hepatocellular carcinoma, Osteoporosis, Hepa... ORPHA:186
Gaucher Disease, Type I
Aortic valve stenosis, Hepatomegaly, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypers... OMIM:230800
Cranioectodermal Dysplasia 2
Atrial septal defect, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Craniosynostosis, Left vent... OMIM:613610
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Periostitis, Elevated circulating C-reactive protein concentration, Hepatomegaly, Neutrophilia, S... OMIM:612852
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Hypospadias, Cryptorchidism, Microcytic anemia ORPHA:98791
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... ORPHA:98849
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Reduced bone mineral density, Cirrhosis, Osteopenia, Rickets, Cholestasis, Thin bon... OMIM:613658
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... OMIM:616100
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Cirrhosis, Thrombocytopenia, Hepatitis, Anemia, Hepa... ORPHA:905
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Decreas... ORPHA:96180
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... ORPHA:465508
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Persistence of hemoglobin F, Atrial septal defect, Increased size of n... OMIM:619769
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy ORPHA:169090
Tangier Disease
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Splenomegaly OMIM:205400
Mitchell-Riley Syndrome
Annular pancreas, Hyperbilirubinemia, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent... OMIM:615710
Pericardial Effusion, Chronic
Polycythemia, Pericardial effusion, Constrictive pericarditis OMIM:260900
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Leukocytosis, Splenomegaly, Hypoproteinemia, Lymphadenitis, Elevated circulating cr... OMIM:615895
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hyperuricemia, Neonatal hyperbilirubinemia, Hepatic steatosis, Hyperalaninemia ORPHA:348
Free Sialic Acid Storage Disease
Reduced bone mineral density, Ascites, Hepatomegaly, Splenomegaly ORPHA:834
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Anemia, Leukopenia, Abnormal erythrocyte enzyme level, Decreased s... ORPHA:447
Kaposiform Lymphangiomatosis
Lymphangioma, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Abn... ORPHA:464329
Ogden Syndrome
Hydrocele testis, Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Mic... OMIM:300855
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Osteopenia, Thrombocytosis, Hypocholes... OMIM:212065
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Steatorrhea, Cirrhosis, Hepatitis, Intrahepatic cholestasis, Jaundice... OMIM:613812
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hepatomegaly, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertau... ORPHA:3008
Agammaglobulinemia, X-Linked
Prostatitis, Cor pulmonale, Enteroviral hepatitis, Hepatocellular carcinoma, B lymphocytopenia, T... OMIM:300755
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Hepatomegaly, Micropenis, Hypocholesterolemia, Hypertrophic cardiomyopathy OMIM:618810
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Ascites ORPHA:2414
Primary Lipodystrophy
Hyperlipidemia, Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatic steatosis, Car... ORPHA:90970
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Micropenis, Pulmonary lymphangiectasia... ORPHA:1655
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hepatomegaly, Atrioventricular canal defect, Osteop... OMIM:619534
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Osteopenia, Decreased testic... OMIM:614837
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Bile duct proliferation, Portal ... OMIM:602347
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Anemia, Hypocalce... OMIM:612301
X-Linked Intellectual Disability, Nascimento Type
Mitral stenosis, Double outlet right ventricle, Micropenis, Hypospadias, Tetralogy of Fallot, Ven... ORPHA:163956
Gaucher Disease Type 3
Aortic valve calcification, Hepatomegaly, Increased bone mineral density, Splenomegaly, Mitral va... ORPHA:77261
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Leukocytosis, Congenital hypoplastic anemia, Spleno... ORPHA:77297
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Sézary Syndrome
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3162
Autoinflammation With Arthritis And Dyskeratosis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Hypereosinophi... OMIM:617388
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hyperammonemia, Cholestasis, Hepatic bridging fibrosis, Hepatic steat... OMIM:618641
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Polycystic ovaries, Hypertrophic ... ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hyperuricemia, Polycys... ORPHA:79083
Chediak-Higashi Syndrome
Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutr... OMIM:214500
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Adams-Oliver Syndrome 6
Splenomegaly, Ventricular septal defect, Hepatic fibrosis, Portal hypertension, Truncus arteriosus OMIM:616589
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Patent foramen ovale ORPHA:293939
Multiple Myeloma
Splenomegaly, Osteopenia, Hyperproteinemia, Elevated circulating creatinine concentration, Hyperc... ORPHA:29073
8P11.2 Deletion Syndrome
Atrial septal defect, Hypoplasia of penis, Spherocytosis, Splenomegaly, Hypogonadotropic hypogona... ORPHA:251066
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Immunodeficiency 36
Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decre... OMIM:616005
Mixed Connective Tissue Disease
Hepatomegaly, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Myocarditis, Hemolytic anemi... ORPHA:809
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing cholangiti... OMIM:308230
Isolated Thyroid-Stimulating Hormone Deficiency
Prolonged neonatal jaundice, Delayed proximal femoral epiphyseal ossification, Abnormal circulati... ORPHA:90674
Potocki-Lupski Syndrome
Hypocholesterolemia, Atrial septal defect, Patent foramen ovale OMIM:610883
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, Anemia, Thrombocytopenia OMIM:170100
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Splenomegaly ORPHA:90033
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... ORPHA:755
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Lead Poisoning
Increased LDL cholesterol concentration, Oligospermia, Decreased HDL cholesterol concentration, I... ORPHA:330015
Legionnaires Disease
Pancreatitis, Lymphopenia, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Hyponatremia, Bone... ORPHA:549
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hepatomegaly, Splenomegaly, Hypercalcemia, Calcinosis, Anemia OMIM:239200
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Splenomegaly, Cystic angiomatosis of bone, Cirrhosis, Elevated hemoglobin A1c, Acut... OMIM:269700
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Hepatomegaly, Splenomegaly OMIM:618541
Mirizzi Syndrome
Cholelithiasis, Pancreatitis, Jaundice, Hyperbilirubinemia, Cholesterol gallstones, Gallbladder p... ORPHA:521219
Alg12-Cdg
Abnormal bone ossification, Muscular ventricular septal defect, Micropenis, Hypospadias, B lympho... ORPHA:79324
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s... OMIM:300972
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... ORPHA:168558
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Increased mean corpuscular he... ORPHA:90041
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Hepatomegaly, Splenomegaly, Leukopenia, Macrovesicular hepatic steatosis, E... OMIM:617303
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Decreased circulating ferritin concentration, Hepa... ORPHA:309854
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Unilateral cryptorchidism, Hepat... OMIM:618280
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Hyperbilirubinemia, Cirrhosis, Sclerosing cholangitis, Cholestasis, In... ORPHA:562639
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Clitoral hypertr... OMIM:614866
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Hepatomegaly, Dense calvaria, Splenomegaly OMIM:252900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... ORPHA:289548
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, B lymphocytopenia, Schistocytosis, Sideroblastic ane... OMIM:616084
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Secundum atrial septal defect, Lymphopenia, Splenomegaly, Pulmonic stenosis, Crypto... OMIM:612541
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile plugs, He... OMIM:617394
Meacham Syndrome
Abnormal vagina morphology, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve... ORPHA:3097
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Cervical lymphadenopathy, Aplasti... ORPHA:2442
Triosephosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Hemolytic anem... OMIM:615512
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Micropenis, Reduced alpha/beta synthesis ratio, Hypospadias, Hypochromic microcytic anemia, HbH h... OMIM:141750