Gene: Prdx2 MGI:109486

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

peroxiredoxin 2

Synonyms:

Trx dependent peroxide reductase 1, thioredoxin dependent peroxide reductase 1, Tdpx1, TR, Prx II-1, TSA, protector protein, thioredoxin reductase, PrxII, thioredoxin peroxidase, TDX1, PRP, thiol specific antioxidant protein, TPx

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Prdx2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Prdx2 (0 diseases)
Human diseases predicted to be associated with Prdx2 (700 diseases)

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

The table below shows human diseases predicted to be associated to Prdx2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,...	ORPHA:766
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Hemoglobin H Disease	Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Spherocytosis, Type 4	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:612653
Spherocytosis, Type 2	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi...	OMIM:616649
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,...	OMIM:237800
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem...	ORPHA:3202
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi...	OMIM:182900
Methemoglobin Reductase Deficiency	Abnormal erythrocyte morphology	OMIM:250700
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Hyperbilirubinemia, S...	OMIM:224120
Solute carrier family 4 (anion exchanger), member 1	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis...	OMIM:109270
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru...	OMIM:613673
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep...	OMIM:615234
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis...	OMIM:615631
Diamond-Blackfan Anemia 19	Steroid-responsive anemia, Anemia, Erythroid hypoplasia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi...	OMIM:601775
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Cyanosis, Transient Neonatal	Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice	OMIM:613977
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly	OMIM:179700
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy...	OMIM:616689
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane...	OMIM:205950
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h...	ORPHA:444463
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level, Splenomegaly	OMIM:612126
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly	ORPHA:46532
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Jaundice	ORPHA:33574
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:228312
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice	OMIM:224100
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly	ORPHA:231393
Rh Deficiency Syndrome	Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem...	ORPHA:71275
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:231900
Hereditary Spherocytosis	Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hem...	ORPHA:822
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Alpha-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J...	ORPHA:846
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis...	OMIM:185000
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic...	OMIM:603902
Cryohydrocytosis	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly	OMIM:185020
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities	Hemolytic anemia, Hepatosplenomegaly, Ascites	OMIM:600461
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis	OMIM:266140
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Harderoporphyria	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolo...	OMIM:618892
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis	OMIM:603529
Sickle Cell Anemia	Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,...	ORPHA:232
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Developmental And Epileptic Encephalopathy 50	Hyperammonemia, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Anemia	OMIM:616457
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Nonspherocytic hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Normocytic ane...	OMIM:235700
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch...	OMIM:266200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod...	OMIM:300908
Hereditary Elliptocytosis	Cholelithiasis, Prolonged neonatal jaundice, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, ...	ORPHA:288
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia	OMIM:301083
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:314050
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine concentration, Pro...	OMIM:274150
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia	OMIM:618660
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Anemia, Splenomegaly	ORPHA:75563
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co...	OMIM:235400
Porphyria, Acute Hepatic	Hemolytic anemia	OMIM:612740
Hyperlysinemia, Type I	Anemia, Hyperlysinemia	OMIM:238700
Glycogen Storage Disease Vii	Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Incre...	OMIM:232800
Aicardi-Goutieres Syndrome 6	Hemolytic anemia	OMIM:615010
Iron-Refractory Iron Deficiency Anemia	Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis	OMIM:206200
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h...	OMIM:614470
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Increas...	OMIM:194380
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocyt...	OMIM:611590
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis, Neonatal hyperbilirubinemia	OMIM:130600
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice	OMIM:312500
Hemochromatosis, Type 2B	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibr...	OMIM:613313
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia	OMIM:245900
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy...	ORPHA:90044
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox...	OMIM:206000
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Sideroblastic anemia	OMIM:616084
Elliptocytosis 1	Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly	OMIM:611804
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Sitosterolemia 1	Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Elevated circ...	OMIM:210250
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia	OMIM:300653
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid...	OMIM:133180
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf...	ORPHA:300298
Anemia, Hypochromic Microcytic, With Iron Overload 1	Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver	OMIM:206100
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se...	ORPHA:98870
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites	Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia	OMIM:141700
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine	ORPHA:54057
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase level	OMIM:615909
Beta-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Abnormality of iron homeostasis,...	ORPHA:848
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb...	OMIM:615285
Erythrocytosis, Familial, 8	Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C...	OMIM:222800
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Immunodeficiency 69	Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr...	OMIM:618963
8P11.2 Deletion Syndrome	Hemolytic anemia, Patent ductus arteriosus, Spherocytosis, Splenomegaly	ORPHA:251066
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice, Hyperkalemia	OMIM:608885
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Pancreatitis, Leukocytosis, Peritonitis, Schistocytosis, Elevated circulating creati...	ORPHA:90038
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia	OMIM:141000
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Primary Myelofibrosis	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm...	ORPHA:824
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis	OMIM:619398
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis	OMIM:300367
Cold Agglutinin Disease	Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:56425
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia	ORPHA:713
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep...	OMIM:616860
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea...	OMIM:619375
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Elliptocytosis 3	Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ...	OMIM:617948
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal ...	OMIM:616278
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Hepatomegaly, Coombs-positive hemolytic anemia, Ele...	OMIM:614034
Babesiosis	Hepatomegaly, Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia, Jaundice	ORPHA:108
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Unconjugated hyperbilirubinemia, Stomatocytosis	OMIM:268150
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia, Jaundice	OMIM:301015
Isobutyryl-Coa Dehydrogenase Deficiency	Decreased plasma carnitine, Anemia	OMIM:611283
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Decreased LDL cholesterol concentration, Acanthocytosis	OMIM:607236
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy	OMIM:618852
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane...	OMIM:601859
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia	OMIM:608898
Alpha-Heavy Chain Disease	Hypocalcemia, Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy, Ascites	ORPHA:100025
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:300448
Autoimmune Hemolytic Anemia	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:98375
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt...	OMIM:616959
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia	OMIM:153550
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Spontaneous hemolytic crises, Impa...	OMIM:613470
Erythrocytosis, Familial, 1	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly	OMIM:133100
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper...	OMIM:603552
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr...	OMIM:607616
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Cholelithiasis, Hypertriglyceridemia	OMIM:177000
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly	OMIM:153670
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas	ORPHA:1195
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval...	ORPHA:35858
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Thrombocytopenia, Lymphopenia	OMIM:616744
Lathosterolosis	Hyperbilirubinemia, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Incr...	OMIM:607330
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism	OMIM:610539
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Sickle Cell Anemia	Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiom...	OMIM:603903
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ...	OMIM:618278
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Increased serum iron, Neutr...	OMIM:604250
Osteopetrosis, Autosomal Recessive 8	Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly	OMIM:615085
Nephronophthisis	Anemia	ORPHA:655
Mu-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy	ORPHA:100024
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Anemia, Hepatic steatosis,...	OMIM:606069
Galactosemia I	Increased level of galactitol in red blood cells, Hepatomegaly, Cirrhosis, Increased level of gal...	OMIM:230400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,...	OMIM:613101
Abetalipoproteinemia	Abetalipoproteinemia, Acanthocytosis	OMIM:200100
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly	ORPHA:163596
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Erythrocytosis, Familial, 4	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:611783
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen...	ORPHA:75564
Erythrocytosis, Familial, 5	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617907
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Beta-Thalassemia Intermedia	Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o...	ORPHA:231222
Systemic Lupus Erythematosus	Hemolytic anemia, Leukopenia, Thrombocytopenia	OMIM:152700
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a...	OMIM:615550
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia	OMIM:615399
Diamond-Blackfan Anemia 4	Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612527
Neonatal Lupus Erythematosus	Neutropenia, Hepatomegaly, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia,...	ORPHA:398124
Acute Erythroid Leukemia	Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope...	OMIM:610629
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia	OMIM:612300
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit	OMIM:609820
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane...	OMIM:603909
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Lcat Deficiency	Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circul...	ORPHA:650
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Lymphadenitis, Hemolytic an...	OMIM:618935
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he...	OMIM:612922
Erythrocytosis, Familial, 6	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617980
Adenosine Triphosphate, Elevated, Of Erythrocytes	Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration	OMIM:102900
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo...	OMIM:212050
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly	OMIM:118830
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
3-Methylglutaconic Aciduria, Type Viia	Anemia, Anisopoikilocytosis, Neutropenia	OMIM:619835
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ...	ORPHA:2585
Glycogen Storage Disease Xii	Nonspherocytic hemolytic anemia, Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ...	OMIM:611881
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he...	OMIM:612926
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:169090
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E...	ORPHA:231214
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypocholesterolemi...	OMIM:615558
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Mcleod Syndrome	Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, R...	OMIM:300842
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th...	OMIM:209950
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he...	OMIM:612925
Erythrocytosis, Familial, 7	Polycythemia, Increased hematocrit	OMIM:617981
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Aceruloplasminemia	Increased circulating ferritin concentration, Anemia, Aceruloplasminemia, Decreased serum iron	OMIM:604290
Diamond-Blackfan Anemia 5	Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612528
Asplenia, Isolated Congenital	Thrombocytosis, Asplenia, Howell-Jolly bodies	OMIM:271400
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi...	OMIM:618398
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ...	OMIM:612840
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Schnitzler Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy	ORPHA:37748
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	ORPHA:517
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Paroxysmal Cold Hemoglobinuria	Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia	ORPHA:90035
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia	OMIM:616435
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Acanthocytosis	OMIM:200150
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis	OMIM:247800
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia	OMIM:616176
Atransferrinemia	Atransferrinemia, Abnormality of the liver, Hypochromic anemia	OMIM:209300
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia, Ascites	ORPHA:295
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy...	ORPHA:86841
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Neutropen...	OMIM:304790
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
Triosephosphate Isomerase Deficiency	Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Hemolytic anemia, Cholecystit...	OMIM:615512
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Kasabach-Merritt Syndrome	Leukopenia, Reticulocytosis, Hepatic hemangioma, Abnormal lymphatic vessel morphology, Neutropeni...	ORPHA:2330
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Patent ductus arteriosus, Hypercalcemia, Anemia, Thrombocytopenia, Ascites	ORPHA:2123
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Ascites, Splenomegaly	ORPHA:1046
Omenn Syndrome	Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym...	OMIM:603554
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma...	OMIM:618849
Familial Benign Copper Deficiency	Anemia, Decreased circulating copper concentration	ORPHA:1551
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers...	ORPHA:231226
Copper Deficiency, Familial Benign	Anemia, Decreased circulating copper concentration	OMIM:121270
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Immunodeficiency 104	Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly	OMIM:608971
Lymphoproliferative Syndrome 1	Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote...	OMIM:613011
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A...	OMIM:612714
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Acute Bilirubin Encephalopathy	Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Neonatal hyperbili...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Neonatal hyperbili...	ORPHA:529808
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Aut...	OMIM:606367
Chylomicron Retention Disease	Hypocholesterolemia, Hepatic steatosis, Increased hepatocellular lipid droplets, Acanthocytosis	ORPHA:71
Leishmaniasis	Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytop...	ORPHA:507
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia...	OMIM:619041
Gaucher Disease, Type Ii	Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly	OMIM:230900
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing cholangiti...	OMIM:308230
Hypermanganesemia With Dystonia 1	Hepatomegaly, Polycythemia, Cirrhosis, Hypermanganesemia, Unconjugated hyperbilirubinemia, Increa...	OMIM:613280
Formiminoglutamic Aciduria	Megaloblastic anemia, Anemia, Abnormal circulating histidine concentration	ORPHA:51208
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Neutropenia, Anemia, Thrombocytopenia	ORPHA:79312
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:616050
Bone Marrow Failure Syndrome 5	Anemia, Pure red cell aplasia	OMIM:618165
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia, Hyperuricemia	ORPHA:371
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Idiopathic Aplastic Anemia	Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:88
Immunodeficiency 64	Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphade...	OMIM:618534
Diamond-Blackfan Anemia 20	Anemia, Erythroid hypoplasia	OMIM:618313
Transaldolase Deficiency	Cirrhosis, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Anemia, Thrombocytop...	ORPHA:101028
Hemochromatosis, Type 2A	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Increased se...	OMIM:602390
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Wolman Disease	Hepatomegaly, Splenomegaly, Anemia, Bone-marrow foam cells, Ascites	ORPHA:75233
Hereditary Cryohydrocytosis With Reduced Stomatin	Hepatosplenomegaly, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Stomatocytosis, ...	ORPHA:168577
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei...	ORPHA:158057
Bleeding Disorder, Platelet-Type, 16	Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:618495
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit	OMIM:263400
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cholestasis, Conjugated hyperbilirubinemia, Jaund...	OMIM:620010
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly, Hyperammonemia	ORPHA:28
Congenital Erythropoietic Porphyria	Splenomegaly, Anisocytosis, Leukopenia, Increased erythrocyte protoporphyrin concentration, Hemol...	ORPHA:79277
Myasthenia Gravis	Hemolytic anemia, Hepatitis, Abnormality of the thymus, Pure red cell aplasia	ORPHA:589
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased prop...	OMIM:615559
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Increased serum pyruvate, Hyperprolinemia, Macrocytic anemia, Hyperalaninemia	OMIM:619046
Agammaglobulinemia 8B, Autosomal Recessive	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast...	OMIM:619824
Common Variable Immunodeficiency	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Lymphadenopathy, Abnorm...	ORPHA:1572
Immunodeficiency 76	Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy	OMIM:619164
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit	ORPHA:284227
Gamma-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu...	ORPHA:100026
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Anemia, Thrombocytopenia, Jaundice	ORPHA:290
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Anemia, Sideroblastic, 1	Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ...	OMIM:300751
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc...	ORPHA:3261
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa...	ORPHA:64743
Paroxysmal Nocturnal Hemoglobinuria	Increased blood urea nitrogen, Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, De...	ORPHA:447
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Hemolytic anemia, Acute pancreati...	OMIM:619487
Galactosemia Iii	Hypergalactosemia, Hepatomegaly, Jaundice, Splenomegaly	OMIM:230350
Lesch-Nyhan Syndrome	Anemia, Hyperuricemia	ORPHA:510
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
Abetalipoproteinemia	Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubinemia, Cirrhosis, R...	ORPHA:14
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased...	OMIM:615513
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin...	OMIM:619868
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Patent ductus arteriosus, Persistence of hemoglobin F, Macrocy...	OMIM:612561
Mixed Connective Tissue Disease	Hepatomegaly, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Hemolytic anemia, Lymphadeno...	ORPHA:809
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly	ORPHA:90037
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia	OMIM:610333
Pearson Syndrome	Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Hypomagnesemia, Hypophosphatemia, S...	ORPHA:699
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote...	ORPHA:158061
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Aregenerative Anemia	Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport...	ORPHA:101096
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice	ORPHA:172
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Decreas...	ORPHA:96180
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis, Patent ductus arteriosus	ORPHA:86818
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Amme Complex	Elliptocytosis	OMIM:300194
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Cholestas...	OMIM:619658
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Hypercalcemia	ORPHA:2668
Tyrosinemia Type 1	Hepatocellular carcinoma, Hepatomegaly, Splenomegaly	ORPHA:882
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Autoimmune thrombocytopenia, Mediastinal lymphadenopathy, Decreased proportion of C...	OMIM:300853
Gaucher Disease, Type Iii	Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231000
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Hepatocellular necrosis, Cirrhosis, Cholestasis, Ab...	OMIM:231100
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Periportal fibrosis, Increased LDL cholesterol concentration, Splenomegaly, Cirrhos...	OMIM:278000
Fanconi Anemia, Complementation Group V	Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia	OMIM:617243
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop...	OMIM:267700
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Enlarged kidney	ORPHA:251004
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod...	ORPHA:54251
Hereditary Orotic Aciduria	Anemia, Patent ductus arteriosus, Splenomegaly	ORPHA:30
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Patent ductus arteriosus, Increased size of nasopharyngeal adenoids	OMIM:619769
Wilson Disease	Increased circulating copper concentration, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cirrh...	OMIM:277900
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia	ORPHA:158029
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, C...	OMIM:616828
Splenoportal Vascular Anomalies	Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous...	OMIM:271500
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly	OMIM:611762
Orthostatic Hypotension 2	Anemia	OMIM:618182
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Short Stature With Microcephaly And Distinctive Facies	Anemia, Anisopoikilocytosis	OMIM:615789
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hy...	OMIM:301078
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly	OMIM:263700
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Elevated circulating C-...	OMIM:308240
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat...	OMIM:150550
Dohle Bodies And Leukemia	Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia	OMIM:223350
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Decreased circulating ferritin concentration, Hepa...	ORPHA:309854
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste...	OMIM:612526
Oslam Syndrome	Anemia	OMIM:165660
Transaldolase Deficiency	Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Hepatic fibros...	OMIM:606003
Hellp Syndrome	Hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased mean corpuscular...	ORPHA:244242
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Pericardial Effusion, Chronic	Polycythemia	OMIM:260900
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ...	OMIM:619463
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch...	OMIM:214900
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ...	ORPHA:98848
Essential Thrombocythemia	Acute leukemia, Abnormal platelet morphology, Splenomegaly	ORPHA:3318
Omenn Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia, L...	ORPHA:39041
Gaucher Disease, Type I	Hepatomegaly, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism	OMIM:230800
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul...	OMIM:613179
Immunodeficiency 31C	Autoimmune hemolytic anemia, Lymphopenia	OMIM:614162
Thymic Aplasia	Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Aplasia of the thymus, T...	ORPHA:83471
Wilson Disease	Hepatomegaly, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Hepatitis, Anemia, Thr...	ORPHA:905
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Microcytic anemia, Prolonged neonatal jaundic...	OMIM:257200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia, Hyperuricemia	OMIM:613092
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Leukopenia, Microangiopathic hemolytic anemia, Thrombocytopenia, Ascites, Lymphadeno...	ORPHA:93552
Stormorken Syndrome	Elevated circulating creatine kinase concentration, Anemia, Thrombocytopenia, Asplenia, Howell-Jo...	OMIM:185070
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie...	OMIM:619802
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:619183
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Cinca Syndrome	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, ...	ORPHA:1451
Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98293
Griscelli Syndrome Type 2	Neutropenia, Hepatomegaly, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphade...	ORPHA:79477
Aceruloplasminemia	Increased circulating ferritin concentration, Abnormal pancreas morphology, Aceruloplasminemia, H...	ORPHA:48818
Lymphoproliferative Syndrome 2	Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ...	OMIM:615122
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:618838
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic fibrosis, Hepatomegaly, Splenomegaly	OMIM:616719
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise...	ORPHA:79301
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop...	OMIM:603553
Catastrophic Antiphospholipid Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia, Coombs-positive hemolytic anemia	ORPHA:464343
Classic Mycosis Fungoides	Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:2584
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Reduced serum alpha-1-antitrypsin, Splenomegaly	OMIM:613490
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Shigellosis	Splenic abscess, Leukocytosis, Peritonitis, Cholestasis, Abnormal blood ion concentration, Hypona...	ORPHA:810
Transcobalamin Ii Deficiency	Neutropenia, Macrocytic anemia, Reticulocytopenia, Pancytopenia	OMIM:275350
Porphyria Cutanea Tarda	Increased circulating ferritin concentration, Viral hepatitis, Periportal fibrosis, Chronic hepat...	ORPHA:101330
Immunodeficiency 23	Hemolytic anemia, Eosinophilia, Lymphopenia, Neutropenia	OMIM:615816
Arthrogryposis Multiplex Congenita 5	Poikilocytosis, Normocytic anemia, Acanthocytosis	OMIM:618947
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia, Ascites, Cardi...	OMIM:269920
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen...	OMIM:607594
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemia, Jaundice	ORPHA:75234
Diamond-Blackfan Anemia 10	Steroid-responsive anemia, Macrocytic anemia, Patent ductus arteriosus, Anemia, Reticulocytopenia	OMIM:613309
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Hydatidiform Mole	Anemia	ORPHA:99927
Coproporphyria, Hereditary	Hepatomegaly, Jaundice, Splenomegaly	OMIM:121300
Pgm3-Cdg	Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in presence of anti-neutrop...	ORPHA:443811
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,...	OMIM:251880
Hemochromatosis, Type 1	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellul...	OMIM:235200
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hemolytic anemia, Gener...	OMIM:615846
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly	OMIM:608540
Lathosterolosis	Hepatomegaly, Anisopoikilocytosis, Intrahepatic cholestasis, Abnormal platelet morphology, Thromb...	ORPHA:46059
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Hepatomegaly, Splenomegaly, Hypercalcemia, Calcinosis, Anemia	OMIM:239200
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Anemia, Thrombocytopenia, Lymphade...	OMIM:617591
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d...	ORPHA:158048
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia, Hepatomegaly, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia	OMIM:259700
Follicular Lymphoma	Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly	ORPHA:545
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Wiskott-Aldrich Syndrome, Autosomal Dominant	Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla...	OMIM:600903
Shwachman-Diamond Syndrome 1	Exocrine pancreatic insufficiency, Hepatomegaly, Persistence of hemoglobin F, Myocardial necrosis...	OMIM:260400
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increased serum iron, ...	ORPHA:446
Immunodeficiency 32B	Splenomegaly	OMIM:226990
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Splenomegaly	ORPHA:90033
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,...	ORPHA:3226
Symptomatic Form Of Hemochromatosis Type 1	Increased circulating ferritin concentration, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cir...	ORPHA:465508
Hemochromatosis Type 2	Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Conge...	ORPHA:79230
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Hepatoerythropoietic Porphyria	Hemolytic anemia, Abnormal circulating porphyrin concentration, Erythroid hyperplasia, Splenomegaly	ORPHA:95159
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Abnormality of ...	ORPHA:381
Felty Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Neutropenia, Bone marrow hypocellular...	ORPHA:47612
Fetal Gaucher Disease	Hepatomegaly, Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia	ORPHA:85212
Dysplastic Cortical Hyperostosis	Hepatomegaly, Splenomegaly	ORPHA:2204
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Lymphopenia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Ce...	OMIM:619573
Gracile Syndrome	Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho...	OMIM:603358
Cronkhite-Canada Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:2930
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia...	OMIM:616100
Prolidase Deficiency	Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, Anemia, Thrombocytopenia	OMIM:170100
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Cholestatic liver disease, Hepatomegaly, Hemophagoc...	ORPHA:540
Glucagonoma	Neoplasm of the pancreas, Abnormal abdomen morphology, Hepatomegaly, Extrahepatic cholestasis, Ac...	ORPHA:97280
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Muckle-Wells Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:575
Syndromic Diarrhea	Lymphopenia, Hepatomegaly, Hepatoblastoma, Splenomegaly, Cirrhosis, Hypoplasia of the thymus, Inc...	ORPHA:84064
Letterer-Siwe Disease	Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice	OMIM:246400
Amyloidosis, Familial Visceral	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:231095
Osteopetrosis With Renal Tubular Acidosis	Hypocalcemia, Hepatomegaly, Enlarged tonsils, Leukopenia, Elevated circulating creatine kinase co...	ORPHA:2785
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level	OMIM:618858
Marburg Hemorrhagic Fever	Hypokalemia, Lymphopenia, Pancreatitis, Hyperammonemia, Leukopenia, Elevated circulating creatine...	ORPHA:99826
Pfapa Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:42642
Wiskott-Aldrich Syndrome	Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Hemolytic anemia, Microcyt...	ORPHA:906
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Bilia...	ORPHA:1414
Autoinflammation With Arthritis And Dyskeratosis	Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Hypereosinophi...	OMIM:617388
Trichohepatoenteric Syndrome 1	Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Abnormality of the pancreas, Increased mean p...	OMIM:222470
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Gaucher Disease Type 1	Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Biliary tract obstruction, Ascites, Pancytopen...	ORPHA:77259
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Impaired neutrophil chemotaxis, Decreased p...	OMIM:619374
Macrocephaly/Autism Syndrome	Lymphopenia, Hepatomegaly, Splenomegaly	OMIM:605309
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly	ORPHA:664
Fish-Eye Disease	Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Gray Platelet Syndrome	Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly	OMIM:139090
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly	OMIM:607271
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	HbH hemoglobin, Patent ductus arteriosus, Reduced alpha/beta synthesis ratio, Hypochromic microcy...	OMIM:141750
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Anemia, Elliptocytosis, Patent ductus arteriosus	OMIM:300990
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c	OMIM:619278
Adult-Onset Still Disease	Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein c...	ORPHA:829
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatomegaly, Eosinophilia, Hepatosplenomegaly, Lymphadenitis...	ORPHA:331206
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli...	ORPHA:98849
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly	OMIM:609981
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Sideroblastic anemia, Hepatom...	OMIM:557000
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Hepatosp...	OMIM:615952
Chediak-Higashi Syndrome	Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutr...	OMIM:214500
Majeed Syndrome	Hepatomegaly, Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Hypochromic microcytic a...	ORPHA:77297
Abcd Syndrome	Polycythemia	OMIM:600501
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Abnormality of the lymph nodes, Eosinophilia, Hepatosplenomegaly, Autoimmune throm...	ORPHA:911
Diabetes Mellitus, Permanent Neonatal, 1	Elevated hemoglobin A1c, Reduced C-peptide level	OMIM:606176
Acute Panmyelosis With Myelofibrosis	Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula...	ORPHA:86843
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Leukocytosis, Splenomegaly, Hypoproteinemia, Lymphadenitis, Elevated circulating cr...	OMIM:615895
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly	OMIM:618394
Osteopetrosis, Autosomal Recessive 7	Anemia, Hepatomegaly, Hypocalcemic seizures, Splenomegaly	OMIM:612301
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly	OMIM:240500
Pantothenate Kinase-Associated Neurodegeneration	Abetalipoproteinemia, Acanthocytosis	ORPHA:157850
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Farber Lipogranulomatosis	Hepatomegaly, Lipogranulomatosis, Splenomegaly	OMIM:228000
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thr...	ORPHA:508542
Immunodeficiency 47	Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s...	OMIM:300972
Kaposiform Lymphangiomatosis	Lymphangioma, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Abnormality of the ly...	ORPHA:464329
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c	OMIM:610582
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ...	OMIM:619849
Infection-Related Hemolytic Uremic Syndrome	Hypocalcemia, Pancreatitis, Leukocytosis, Hemolytic anemia, Hyponatremia, Thrombocytopenia, Hyper...	ORPHA:544482

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