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 2.85×10-10
increased mean corpuscular hemoglobin Dusp16em1(IMPC)Tcp HOM Early adult 6.36×10-09
decreased prepulse inhibition Dusp16em1(IMPC)Tcp HOM   Early adult 2.90×10-06
decreased hematocrit Dusp16em1(IMPC)Tcp HOM Early adult 2.71×10-05
enlarged lymph nodes Dusp16em1(IMPC)Tcp HOM Early adult 0.00
increased spleen weight Dusp16em1(IMPC)Tcp HOM Early adult 8.09×10-07
increased red blood cell distribution width Dusp16em1(IMPC)Tcp HOM Early adult 1.28×10-05
increased heart weight Dusp16em1(IMPC)Tcp HOM   Early adult 4.36×10-05
decreased hemoglobin content Dusp16em1(IMPC)Tcp HOM Early adult 8.66×10-05
increased circulating bilirubin level Dusp16em1(IMPC)Tcp HOM Early adult 5.02×10-07
decreased circulating HDL cholesterol level Dusp16em1(IMPC)Tcp HOM Early adult 6.76×10-05
abnormal uterus morphology Dusp16em1(IMPC)Tcp HOM Early adult 0.00
enlarged spleen Dusp16em1(IMPC)Tcp HOM Early adult 0.00
abnormal bone structure Dusp16em1(IMPC)Tcp HOM   Early adult 5.16×10-06
decreased body length Dusp16em1(IMPC)Tcp HOM Early adult 3.71×10-05

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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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

60 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis,... OMIM:237800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Splenomegaly, Hepatomegaly, Anemia, Persistence of hemoglobin F ORPHA:46532
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Cirrhosis, Splenomegaly, Conjug... OMIM:616860
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Anemia, Congenital Dyserythropoietic, Type Iv
Anisocytosis, Anemia, Increased RBC distribution width, Hyperbilirubinemia, Persistence of hemogl... OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia ORPHA:231249
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepatomegaly, Jaundic... OMIM:616278
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Malaria
Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia ORPHA:673
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Splenomegaly, Hepatomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocytopenia OMIM:610539
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:612653
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reti... OMIM:616649
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Anemia, Abnormal hemoglobin, Thrombocytopenia, Abnormal cardiac sep... ORPHA:3319
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Cryptorchidism, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Retic... OMIM:185000
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reti... OMIM:182900
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Azoospermia, Splenomegaly, Hepatome... OMIM:615234
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Ma... ORPHA:3202
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Prolonged neonatal jaun... OMIM:618892
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Elli... OMIM:109270
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hereditary Elliptocytosis
Cholelithiasis, Reticulocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hyperbiliru... ORPHA:288
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Ab... ORPHA:86841
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Hypertrophic cardiomyopathy, Sp... ORPHA:848
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Cirrhosis, N... OMIM:214900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Rh Deficiency Syndrome
Reticulocytosis, Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Jaundice, Spherocytosis, Hy... ORPHA:71275
Infantile Sialic Acid Storage Disease
Osteopenia, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, As... OMIM:269920
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Hyperbilirubinemia, Increased total iron binding capacity, Abnormal erythro... ORPHA:98870
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis,... OMIM:266200
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Splenomegaly, Abnormal cortical bone morphology ORPHA:1802
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Premature ovarian ins... ORPHA:100025
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... ORPHA:64743
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hyperbiliru... OMIM:607765
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Leukocytosis, Thr... OMIM:618963
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL c... OMIM:607616
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Hepatomegaly, ... ORPHA:822
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Osteoporosis, Abnormal B cell count, Anemia, Lymphadenopathy, Osteolysis ORPHA:100024
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Hepa... OMIM:613313
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy OMIM:618495
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin conc... ORPHA:231226
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin ORPHA:90037
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice, Hyperuricemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration... OMIM:232800
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia ORPHA:79235
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Hepatomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Prolonged neonatal jaundice, Biliary tract abnormality, Neonatal hyperb... ORPHA:79234
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration,... ORPHA:247598
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Osteopenia, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepato... OMIM:211600
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Cranial hyperostosis, Leukocytosis, Increased bone mineral density, Decreased osteo... OMIM:259720
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Rotor Syndrome
Intermittent jaundice, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Jaundice ORPHA:3111
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea OMIM:235555
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Leukocytosis, Anisocytosis, Hepatomegaly, H... OMIM:618278
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Portal hypertension, Periportal fibrosis, Splenomegaly, Hepatomegaly, Hepatoce... OMIM:251880
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Dubin-Johnson Syndrome
Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice OMIM:237500
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukop... OMIM:603553
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Jaundice OMIM:129850
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hyperbilirubinemia, Decreased hemoglobin concentration, Hemolytic anemia ORPHA:713
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal serum bile ... ORPHA:79303
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Intrahepatic cholestasis, H... OMIM:605814
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Anemia, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia, Jaundice OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Hepatic fibrosis OMIM:614480
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Anemia, Pericarditis, Abnormal hemoglobin ORPHA:163596
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Hyperbilirubinemia, Macrovesicular hepa... OMIM:613070
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Cystic Echinococcosis
Eosinophilia, Abnormality of the testis size, Abnormality of the pancreas, Biliary tract obstruct... ORPHA:400
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Intermittent... OMIM:601847
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Hemolytic anemia, Jaundice, Stomatocytosis OMIM:268150
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Isolated Polycystic Liver Disease
Polycystic liver disease, Abnormality of the pancreas, Hepatomegaly, Increased total bilirubin ORPHA:2924
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Atrial septal defect, Hypochromia, Anisocytosis, Ventri... OMIM:258900
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Polycythemia, Cirrhosis, ... OMIM:613280
Beta-Thalassemia Intermedia
Osteoporosis, Abnormality of iron homeostasis, Persistence of hemoglobin F, Cholelithiasis, Jaund... ORPHA:231222
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Atrial septal defect, Hypermethioninemia, Pulmonic stenosis, Hype... OMIM:614300
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Reticulocytosis, Thrombocy... OMIM:611490
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Osteopenia, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Calv... OMIM:612714
Hepatic Veno-Occlusive Disease
Jaundice, Hepatomegaly, Increased total bilirubin, Ascites ORPHA:890
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Hyperbilirubinemia, Extrahe... OMIM:210500
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Abnormality ... OMIM:612840
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy... OMIM:607685
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hypocalcemia, Splenomegaly, Hepatomegaly, Jaundice, Reduced bone mineral density ORPHA:172
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Cholestasis, Bile duct proliferation, Jaundice, Hyperbilirubinemia, Cirrhosis ORPHA:79302
Tyrosinemia Type 1
Rickets of the lower limbs, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Abnormality of the liver, Hyponatremia, Atrial septal defect, ... ORPHA:1667
Lymphoproliferative Syndrome 1
Pancytopenia, Increased circulating ferritin concentration, Leukopenia, Autoimmune hemolytic anem... OMIM:613011
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Osteopetrosis, Autosomal Dominant 3
Anemia, Osteopenia, Splenomegaly, Hepatomegaly OMIM:618107
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Sitosterolemia 1
Abnormality of the liver, Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circulati... OMIM:210250
Bile Acid Conjugation Defect 1
Hepatomegaly, Rickets, Conjugated hyperbilirubinemia, Jaundice OMIM:619232
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Galactosemia Iii
Hypergalactosemia, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Congenital Erythropoietic Porphyria
Reticulocytosis, Increased erythrocyte protoporphyrin concentration, Leukopenia, Poikilocytosis, ... ORPHA:79277
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Relapsing Fever
Leukopenia, Elevated circulating creatinine concentration, Leukocytosis, Neutrophilia, Elevated c... ORPHA:91547
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice OMIM:143500
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Decreased circulating ceruloplasmin conce... OMIM:616828
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B ly... OMIM:603554
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Hepatomegaly, Increased total bilirubin, Cholestasis OMIM:618528
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Anemi... OMIM:618398
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Increased total bilirubin, Ascites OMIM:174050
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmu... OMIM:615559
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Dilated cardiomyopathy, Hypogonadotropic hypogonadi... OMIM:602390
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Lymphopenia OMIM:619164
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating ino... OMIM:613179
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepat... OMIM:300635
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:243300
Bone Marrow Failure Syndrome 6
Osteopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, ... OMIM:618849
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Hypoplasia of penis, Anemia, Ascites, Hypospadias ORPHA:1046
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly, Increased bone mineral density ORPHA:2204
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, Hepatic bridging fibrosi... OMIM:619658
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Tangier Disease
Hepatosplenomegaly, Coronary artery stenosis, Orange discolored tonsils, Anemia, Chronic noninfec... ORPHA:31150
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Ascites, Cardiomegaly, Thrombocytopenia ORPHA:858
Abetalipoproteinemia
Hepatic steatosis, Cirrhosis, Osteopenia, Hypotriglyceridemia, Hepatomegaly, Acanthocytosis, Decr... ORPHA:14
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Pancreatitis, Thrombocytopenia, ... ORPHA:79312
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Exercise-induced hemolysis, Splenom... OMIM:194380
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hepatome... OMIM:612526
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Caroli Syndrome
Leukopenia, Leukocytosis, Portal hypertension, Cholangitis, Cholangiocarcinoma, Cirrhosis, Conjug... ORPHA:480520
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis, Hyperam... OMIM:271500
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Hyperprolinemia, Increased serum pyruvate, Splenomegaly, Cardiomyopathy, Macrocytic anemia, Hyper... OMIM:619046
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Osteoporosis, Increased ... ORPHA:98848
Lathosterolosis
Schistocytosis, Hepatosplenomegaly, Osteoporosis, Acanthocytosis, Intrahepatic cholestasis, Ambig... OMIM:607330
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Abnormality of the male genitalia, Atrial septal defect, Double outlet right vent... OMIM:614886
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Cholestasis OMIM:609734
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... OMIM:300853
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Elevated circulating C-reactive prote... OMIM:616050
Methemoglobinemia And Ambiguous Genitalia
Micropenis, Male pseudohermaphroditism, Bifid scrotum, Ambiguous genitalia, Methemoglobinemia, Hy... OMIM:250790
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia, Cirrhosis ORPHA:75234
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Elevated circulating C-reactive p... ORPHA:158061
Proteus Syndrome
Lymphangioma, Splenomegaly, Mandibular hyperostosis, Facial hyperostosis, Thin bony cortex, Calva... OMIM:176920
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Refractory sideroblastic anemia, Sideroblastic a... OMIM:557000
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Abnormality of the ovary, Decreased propor... ORPHA:543
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Osteoporosis, Biliary tract abnormality, Cirrhosis, Neonata... ORPHA:79301
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Cholestasis-Lymphedema Syndrome
Portal hypertension, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormal... ORPHA:1414
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Leukocytosis, Portal hypertension, Cholestasis, Cholangitis, C... ORPHA:53035
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Leukopenia, Hepatosplenomegaly, Periportal fibrosis, Hypercholesterolemia, Por... OMIM:278000
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, Splenomegaly... ORPHA:824
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Abnormal testis morphology, Neutrophilia, Elevated circulating C-rea... ORPHA:54251
Griscelli Syndrome Type 2
Pancytopenia, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia... ORPHA:79477
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hyperlipidemia, Portal hypertension, Splenomegaly, Hepatomegal... ORPHA:567983
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Sandhoff Disease
Splenomegaly, Hepatomegaly ORPHA:796
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Anemia... OMIM:619151
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Azoospermia, Splenom... OMIM:235200
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly OMIM:611762
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Splenomegaly, Hepatomegaly, Hypogonadism OMIM:608540
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Intrahepatic cholestasis, Giant cell hepatitis, Prolonged neonatal jaundice, Hyperb... OMIM:214950
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Increased serum bile aci... OMIM:619662
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia OMIM:608885
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:610333
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Splenomegaly, Jaundice, Fulminant hepatitis, ... ORPHA:2137
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Conjugated hyperbilirubinemia, Jaundice, Spontaneous hemolytic crises, Stomat... ORPHA:168577
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin conc... ORPHA:231214
Fumarase Deficiency
Hyperbilirubinemia, Cholestasis, Polycythemia OMIM:606812
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Wolman Disease
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Steatorrhea ORPHA:75233
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98293
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hemolytic anemia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbili... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Prolonged neonatal jaundice, Hemolytic anemia, Hypoalbuminemia, Neonatal hyperbili... ORPHA:529808
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Babesiosis
Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Thrombocytopenia ORPHA:108
Hepatocellular Carcinoma
Hypokalemia, Abnormality of the liver, Hyponatremia, Portal hypertension, Hypercalcemia, Thromboc... ORPHA:88673
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Lymphadenitis, Leukocytosis, Anemia, Cardiomegaly, ... OMIM:618886
Graft Versus Host Disease
Hepatosplenomegaly, Hemophagocytosis, Chronic hepatitis, Jaundice, Hyperbilirubinemia, Lymphadeno... ORPHA:39812
Dubin-Johnson Syndrome
Abnormality of the liver, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract ab... ORPHA:234
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Delayed proximal femoral epiphyseal oss... ORPHA:95717
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Thrombocytosis, Coombs-positive hemolytic anemia, E... OMIM:614034
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly, Decreased circulating c... OMIM:618838
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration ORPHA:79292
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum ORPHA:545
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti... OMIM:308240
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Senior-Boichis Syndrome
Hepatosplenomegaly, Portal hypertension, Cholestasis, Cirrhosis, Reduced number of intrahepatic b... ORPHA:84081
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hepatosplenomegaly, Decreased mean corpuscular volu... ORPHA:300298
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Macrocytic anemia, Atrial septal defect, Increased mean corpuscular volume, ... OMIM:612561
Reynolds Syndrome
Biliary cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Calcinosis, Hyperbilirubinemia, Steatorrhea OMIM:613471
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Hypocalcemia, Splenomegaly, Hepat... OMIM:259700
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Cinca Syndrome
Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration, Hepatomegaly, ... ORPHA:1451
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Genital ulcers, Aplasia of the thymus OMIM:602450
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Intrahepatic cholestasis OMIM:605479
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Patent foramen ovale, Atrial septal defect, Splenomegaly, Hepat... OMIM:606003
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Jaundice, Giant cell hepatitis, Ventricular septal defect, Cholest... OMIM:613404
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the liver, Hypertrophic cardiomyopathy, Abnormal heart morphology, Hyperbilirubine... ORPHA:464321
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Congenital Rubella Syndrome
Atrial septal defect, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Ventricular septal defect, Th... ORPHA:290
Gaucher Disease Type 1
Pancytopenia, Abnormal myocardium morphology, Leukopenia, Increased bone mineral density, Biliary... ORPHA:77259
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Splenomegaly, ... ORPHA:381
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Atrial septal defect, Cryptorchidism, Hypocalcemia, Micropenis, Anemia, Hyper... ORPHA:163979
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Conjugated hyperbilirubinemia, Jaundice, Giant cell hepatitis, Ventricular ... OMIM:208085
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy ORPHA:2584
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Schistocytosis, Hyponatremia, Elevated circulating creatinine concentration, Leukocy... ORPHA:90038
Essential Thrombocythemia
Myelofibrosis, Splenomegaly, Acute leukemia, Abnormal platelet morphology ORPHA:3318
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, B lymphocytopen... OMIM:607594
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Acanthocytosis, Hypocholesterolemia, ... ORPHA:71
Isolated Biliary Atresia
Cholestasis, Periportal fibrosis, Bile duct proliferation, Atretic gallbladder, Splenomegaly, Hep... ORPHA:30391
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Ascit... OMIM:619463
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:610293
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Felty Syndrome
Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Neutrope... ORPHA:47612
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hyperammonemia ORPHA:664
Hardikar Syndrome
Cholestasis, Cholangitis, Bile duct proliferation, Osteoporosis, Hyperbilirubinemia, Ventricular ... OMIM:301068
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice OMIM:121300
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutr... ORPHA:398124
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Neutrophilia... ORPHA:829
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Atrial septal defect, Cor triatriatum, Cryptorchidism, Splenomegaly, Hep... OMIM:612541
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Cirrhosis, Cholestasis, Hypercholesterolemia, Polycystic ovaries, Splenomegaly... ORPHA:370
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Immunodeficiency 32B
Splenomegaly OMIM:226990
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:98375
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Lymphadenopathy, Osteolysis ORPHA:391
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Splenomegaly, Hepatomegaly, Cardiomyopathy, Abnormality of the t... ORPHA:93476
Neuraminidase Deficiency
Vacuolated lymphocytes, Epiphyseal stippling, Splenomegaly, Hepatomegaly, Bone-marrow foam cells,... OMIM:256550
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Hyperbilirubinemia, Increased serum bile acid concentration, Bilateral ... OMIM:619685
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Polycystic ovaries, Splenomegaly, Hepatomeg... ORPHA:264580
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Anemia, Abnormality of the peritoneum, Lymph... ORPHA:83469
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Osteopenia, Thrombocytosis, Hepatomegaly, Hypergonadotropic hypogonadism, Card... OMIM:212065
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Lymphadenopath... ORPHA:85414
Farber Lipogranulomatosis
Lipogranulomatosis, Osteolysis involving bones of the feet, Splenomegaly, Hepatomegaly, Osteolyti... OMIM:228000
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Mcleod Syndrome
Dilated cardiomyopathy, Splenomegaly, Hepatomegaly, Acanthocytosis, Elevated circulating creatine... OMIM:300842
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Osteoporosis, Hepatomegaly, Steatorrhea OMIM:266510
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Tempi Syndrome
Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Decreased plasma total carnitine, Elevated circulating c... OMIM:608836
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Niemann-Pick Disease, Type A
Microcytic anemia, Splenomegaly, Hepatomegaly, Osteoporosis, Bone-marrow foam cells, Prolonged ne... OMIM:257200
Gray Platelet Syndrome
Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia, Myelofibrosis OMIM:139090
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy OMIM:240500
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Thrombocytopenia, Hepatomegaly, Anemia, Lymphadenopathy, Hypertriglyceridemia, Lymp... OMIM:617591
Sickle Cell Anemia
Increased red cell sickling tendency, Cholelithiasis, Leukocytosis, Splenomegaly, Hepatomegaly, J... OMIM:603903
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Hemol... OMIM:618935
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Polycystic ovaries, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Osteoporosis, Elevated circ... ORPHA:79240
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Delayed proximal femoral epiphyseal oss... ORPHA:95716
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... ORPHA:540
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnor... ORPHA:158048
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Myelofibrosis, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, L... ORPHA:86843
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Sialidosis Type 2
Osteoporosis, Splenomegaly, Hepatomegaly, Ascites ORPHA:87876
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:609981
Shwachman-Diamond Syndrome 1
Pancytopenia, Exocrine pancreatic insufficiency, Acute myeloid leukemia, Hepatomegaly, Irregular ... OMIM:260400
Gaucher Disease, Type I
Pancytopenia, Aortic valve stenosis, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocy... OMIM:230800
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Increased circulating farnesol concentrat... OMIM:618156
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Osteoporosis, Hypogonadism ORPHA:73272
Cranioectodermal Dysplasia 2
Biliary cirrhosis, Craniosynostosis, Patent foramen ovale, Cholestasis, Cholangitis, Atrial septa... OMIM:613610
Castleman Disease
Myelofibrosis, Abdominal mass, Elevated circulating C-reactive protein concentration, Generalized... ORPHA:160
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, L... ORPHA:39041
Intrahepatic Cholestasis Of Pregnancy
Abnormality of the pancreas, Increased serum bile acid concentration, Cholecystitis, Jaundice, Hy... ORPHA:69665
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... OMIM:308230
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Hepatitis, Acute hepa... ORPHA:905
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Atrial septal defect, Increased size of nasopharyngeal adenoids, Ven... OMIM:619769
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Hypospadias, Cryptorchidism, HbH hemoglobin ORPHA:98791
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Acanthocytosis, Elevated circulating creatine kinase concentration, Abnorma... ORPHA:96180
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hepatic steatosis, Small scrotum, Portal hypertension, Osteopenia, Cholestasis, Bil... OMIM:613658
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, De... OMIM:615947
Bachmann-Bupp Syndrome
Cryptorchidism, Hyperbilirubinemia OMIM:619075
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Attrv122I Amyloidosis
Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Anemia, Restrictive cardiomyopath... ORPHA:85451
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy OMIM:619183
Degcags Syndrome
Pancytopenia, Chordee, Cholestasis, Cryptorchidism, Iron deficiency anemia, Anemia, Hyperbilirubi... OMIM:619488
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop... OMIM:616100
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion, Polycythemia OMIM:260900
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Hypertri... OMIM:613027
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia OMIM:605309
Mevalonic Aciduria
Splenomegaly ORPHA:29
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Myelofibrosis
Myeloproliferative disorder, Myelofibrosis, Splenomegaly OMIM:254450
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Reticulocytosis, Leukopenia, Decreased serum iron, Increased blood urea nitrogen, J... ORPHA:447
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, Splenomegaly, Abnormal splee... ORPHA:464329
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Primary Biliary Cholangitis
Biliary cirrhosis, Portal hypertension, Abnormal circulating lipid concentration, Osteoporosis, C... ORPHA:186
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Portal hypertension,... ORPHA:465508
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Periportal fibrosis OMIM:619484
Tangier Disease
Left ventricular hypertrophy, Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration OMIM:205400
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Jaundice, Ascites, Cirrhosis, Hyperamm... OMIM:617049
Agammaglobulinemia, X-Linked
T lymphocytopenia, Prostatitis, Neutropenia, Anemia, Epididymitis, B lymphocytopenia, Hepatocellu... OMIM:300755
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Pancreatic hypoplasia, Hyperbilirubinemia, Biliary atresia, Acho... OMIM:615710
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Periostitis, Neutrophilia, Elevated circulating C-reactive protein concentration, Hep... OMIM:612852
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Accessory spleen, Hepatopulmonary fusion, Atrial sept... OMIM:618280
Roifman Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Ventricular septal defect, Noncompacti... OMIM:616651
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypertaurinemia, Hyperlysinemia, Hyperprolinemia, Increased serum pyruvate, Elevat... ORPHA:3008
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Hepatomegaly, Hyperuricemia, Neonatal hyperbilirubinemia, Hyperalaninemia ORPHA:348
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Leukocytosis, Splenomegaly, Hepatomegaly, Hypervalinemia, Elevated circulating cr... OMIM:615673
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Acholic stools, Cirrho... OMIM:613812
Gaucher Disease Type 3
Pancytopenia, Abnormal myocardium morphology, Abnormal heart valve morphology, Increased bone min... ORPHA:77261
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Majeed Syndrome
Leukocytosis, Increased bone mineral density, Congenital hypoplastic anemia, Splenomegaly, Hepato... ORPHA:77297
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentra... OMIM:617388
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Ne... OMIM:214500
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Decreased circulating apolipoprotein AI concentration, Elevated circulating c... ORPHA:85450
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hepatosplenomegaly, Cryptorchidism, Micropenis, Hypocalcemia, Splenomegaly, Panc... ORPHA:1655
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Elevated circulating creatinine concentration, Cholestasis, Bile duct prolifer... OMIM:619534
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Lymphadenitis, Autoimmune thrombocytopenia, Autoimmune hemolyti... ORPHA:911
Prolidase Deficiency
Splenomegaly, Hepatomegaly, Anemia, Prolonged neonatal jaundice, Thrombocytopenia OMIM:170100
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Abnormal trabecular bone morphology, Splenomegaly, Hepatomegaly, Anemia, O... OMIM:612301
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, L... ORPHA:29073
8P11.2 Deletion Syndrome
Hypogonadotropic hypogonadism, Atrial septal defect, Cryptorchidism, Azoospermia, Splenomegaly, H... ORPHA:251066
X-Linked Intellectual Disability, Nascimento Type
Tetralogy of Fallot, Patent foramen ovale, Cryptorchidism, Micropenis, Double outlet right ventri... ORPHA:163956
Cronkhite-Canada Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:2930
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hepatomegaly, Pulmonic stenosis, Ascites, Chylopericardium ORPHA:2414
Primary Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Splenomegaly, Cardiomyopathy, Pancreatitis... ORPHA:90970
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Jaundice ORPHA:90033
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy ORPHA:3162
Mixed Connective Tissue Disease
Leukopenia, Splenomegaly, Myocarditis, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Osteolysi... ORPHA:809
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Splenomegaly, Hepatomegaly, Anemia, Calcinosis, Hypophosphatemia OMIM:239200
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, H... ORPHA:2348
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Micropenis, Hypertrophic cardiomyopathy, Hepatomegaly, Hypocholesterolemia, Hydrocele testis OMIM:618810
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Cholestasis, Atrial septal defect, Splenomegaly, Hepatomegaly, Elevated circulating... OMIM:614576
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Splenomegaly, Hepatomegaly OMIM:613489
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, Cardiomyopathy, B lymphocytopenia, Hypochromi... OMIM:616084
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomega... OMIM:231005
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Immunodeficiency 36
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia OMIM:616005
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Osteopenia, Azoospermia, Cryptorchidism, Micropenis, Hypoplasia of... OMIM:614837
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Patent foramen ovale ORPHA:293939
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Leukopenia, Bone marrow hypocellularity, Atrial septal defect, Hypertrophic card... OMIM:617303
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, H... ORPHA:79083
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Increased hematocrit, Cholecystitis, Inc... ORPHA:90041
Legionnaires Disease
Hyponatremia, Bone marrow hypocellularity, Endocarditis, Splenomegaly, Myocarditis, Pancreatitis,... ORPHA:549
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Abnormality of the liver, Portal hypertension, Decreased circulating ferritin conce... ORPHA:309854
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Hypercholesterolemia, Prolonged neonatal jaundi... ORPHA:90674
Muckle-Wells Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:575
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Cryptorchidism, Microp... ORPHA:755
Niemann-Pick Disease, Type C2
Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Abnormal circula... OMIM:607625
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic... OMIM:300510
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Leukopenia, Normocytic anemia, Accessory sp... OMIM:300972
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Cryptorchidism, Micropenis, HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypospadias, Hypo... OMIM:141750
Triosephosphate Isomerase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Prolonged neonatal jaun... OMIM:615512
Potocki-Lupski Syndrome
Atrial septal defect, Hypocholesterolemia, Patent foramen ovale OMIM:610883
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatosplenomegaly, Cryptorchidism, Epiphyseal stippling, Splenomegaly, Hepatomegaly, Intrahepati... OMIM:614866
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly, Dense calvaria OMIM:252900
Free Sialic Acid Storage Disease
Reduced bone mineral density, Splenomegaly, Hepatomegaly, Ascites ORPHA:834
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:616834
Alg12-Cdg
Hyponatremia, Patent foramen ovale, Cryptorchidism, Biventricular hypertrophy, Micropenis, Muscul... ORPHA:79324
Mirizzi Syndrome
Cholelithiasis, Cholesterol gallstones, Gallbladder perforation, Jaundice, Hyperbilirubinemia, Ab... ORPHA:521219
Acquired Methemoglobinemia