Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
CBFA2/RUNX1 translocation partner 3
Synonyms:
MTGR2,  Eto2,  A630044F12Rik,  ETO-2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Cbfa2t3 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 Cbfa2t3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Jaundice, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Abnormality of the liver, Hypochromia OMIM:206100
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:205950
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612653
Hyperlysinemia, Type I
Anemia OMIM:238700
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... OMIM:109270
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Cholestasis, Thrombocytosis... ORPHA:232
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Harderoporphyria
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia, Reticulocytosis OMIM:618892
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Heinz bodies, Prolo... OMIM:300908
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Nephronophthisis
Anemia ORPHA:655
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis OMIM:266200
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, Splenomegaly... ORPHA:824
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, ... OMIM:194380
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic ane... OMIM:232800
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia OMIM:300653
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic an... ORPHA:288
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia ORPHA:318
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis ORPHA:90044
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... ORPHA:822
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume OMIM:611590
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Sitosterolemia 1
Abnormality of the liver, Giant platelets, Splenomegaly, Chronic hemolytic anemia, Stomatocytosis... OMIM:210250
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:259710
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Jaundice, Spherocytosis, Hemolytic anemia, S... ORPHA:71275
Diamond-Blackfan Anemia 4
Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612527
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
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
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Splenomega... ORPHA:231222
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:616435
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Lymphopenia OMIM:619164
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Cirrhosis, Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Elevat... OMIM:616860
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia, Ascites ORPHA:295
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259730
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Diamond-Blackfan Anemia 5
Reticulocytopenia, Leukopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612528
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Ly... OMIM:603554
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Anemia, Thrombocytopenia OMIM:187800
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites ORPHA:100025
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Beta-Thalassemia Major
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... ORPHA:231214
Atransferrinemia
Hypochromic anemia, Abnormality of the liver OMIM:209300
Dominant Beta-Thalassemia
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... ORPHA:231226
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hepatosplenomegaly, Hemolytic anemia, Ascites OMIM:600461
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Bone Marrow Failure Syndrome 5
Anemia, Pure red cell aplasia OMIM:618165
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Jaundice, Prolonged neonatal jaundice, Reticulocytosis, Microangiopathic hemolyti... OMIM:274150
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis OMIM:613313
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia OMIM:610090
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Malaria
Anemia, Thrombocytopenia ORPHA:673
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia OMIM:618660
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Refractory anemia OMIM:616871
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:618204
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Ab... ORPHA:86841
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Idiopathic Aplastic Anemia
Pancytopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Leukocytosis, Anisocytosis, Hepatocellular ... OMIM:618278
Osteopetrosis, Autosomal Dominant 3
Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Hypochromic microcytic anemia, As... OMIM:259720
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia OMIM:229100
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:617243
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Senior-Loken Syndrome 1
Anemia OMIM:266900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Schistocytosis, Thrombocytopenia OMIM:235400
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Kasabach-Merritt Syndrome
Leukopenia, Abnormal lymphatic vessel morphology, Neutropenia, Anemia, Reticulocytosis, Microangi... ORPHA:2330
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Prolonged neonatal ... ORPHA:79303
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Extramedullary hematopoiesis ORPHA:313855
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Hepatomegaly, Anemia, Hepatitis, Abnormal hemogl... ORPHA:848
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Anemia of inadequate production, Hemolytic anemia, Elliptocytosis OMIM:166910
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... OMIM:609628
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... OMIM:618849
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Focal Segmental Glomerulosclerosis 1
Anemia OMIM:603278
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly ORPHA:28
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... OMIM:612714
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmu... OMIM:615559
Bone Marrow Failure Syndrome 4
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:618116
Oslam Syndrome
Anemia OMIM:165660
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly, Hemolytic anemia ORPHA:56425
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Anemia, Elevated hepatic iron concentration, Anisopoikilocytosis, Dysplastic ... ORPHA:300298
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... OMIM:617780
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Splenomegaly, Hemophagocytosis OMIM:618398
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Hepatitis, Elev... ORPHA:3261
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Splenomegaly, Ascites ORPHA:1046
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Senior-Loken Syndrome 4
Anemia OMIM:606996
Intermediate Generalized Junctional Epidermolysis Bullosa
Anemia ORPHA:79402
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia, Jaundice OMIM:301015
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hepatomegaly, Ascites ORPHA:2123
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, B lymphocytopen... OMIM:607594
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Reticular Dysgenesis
Abnormality of neutrophils, Anemia, Leukopenia, Aplasia/Hypoplasia of the thymus ORPHA:33355
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
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
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Poikilocytosis, Acanthocytosis OMIM:300367
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Transaldolase Deficiency
Cirrhosis, Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia ORPHA:2598
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Absence of lymph node germinal center, Absent tonsils, B lymphocytopenia, Lymp... ORPHA:277
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Hemolytic anemia OMIM:245900
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Wolman Disease
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Ascites, Cardiomegaly, Thrombocytopenia ORPHA:858
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Hepatosplenomegaly, Thrombocytosis OMIM:604416
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Anemia, Thrombocytopenia OMIM:619151
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Chronic hemolytic anemia, Elliptocytosis, Decreased me... OMIM:617948
Babesiosis
Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Thrombocytopenia ORPHA:108
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:607115
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia, Cirrhosis OMIM:604250
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Absent circulating B cells OMIM:613500
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:98375
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Refractory anemia OMIM:231095
Adenosine deaminase, elevated, hemolytic anemia due to
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:79312
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Infantile Liver Failure Syndrome 1
Anemia, Hepatic steatosis, Hepatomegaly, Macrocytic anemia OMIM:615438
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia ORPHA:2668
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Neutrophilia, Anemia, Liver abscess, Abnormality of the lymph nodes,... ORPHA:54251
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Anemia ORPHA:2325
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:608885
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Schistocytosis, Leukocytosis, Peritonitis, Pancreatitis, Reticulocytosis, Microangiopathic hemoly... ORPHA:90038
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Hemochromatosis, Type 4
Cirrhosis, Anemia, Hepatic steatosis, Hepatomegaly OMIM:606069
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:610333
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Recurrent cutaneous abscess formation, Abnormality of neutrophils... ORPHA:229717
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Hypochromic microcytic anemia OMIM:301310
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Absce... OMIM:618935
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia ORPHA:27
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Sandhoff Disease
Splenomegaly, Hepatomegaly ORPHA:796
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia OMIM:613092
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti... OMIM:308240
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:289916
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Hepatitis, Aplastic anemia OMIM:300635
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Pancytopenia, Bone marrow hypocellularity, Anemia, Myeloid leukemia, Aplastic anemia, Cirrhosis, ... OMIM:614742
Coach Syndrome 3
Anemia, Portal fibrosis OMIM:619113
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Agammaglobulinemia 6, Autosomal Recessive
B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... ORPHA:64743
Diamond-Blackfan Anemia 11
Neutropenia, Anemia, Anemia of inadequate production, Bone marrow hypocellularity OMIM:614900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis OMIM:268150
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
Familial Benign Copper Deficiency
Anemia ORPHA:1551
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Poikilo... ORPHA:98870
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Cervical lymphadenopathy, Anemia, Acute monocytic leukemia, Lym... ORPHA:514
Letterer-Siwe Disease
Hepatosplenomegaly, Jaundice, Neutropenia, Anemia, Thrombocytopenia OMIM:246400
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis OMIM:271500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia OMIM:617056
Hydatidiform Mole
Anemia ORPHA:99927
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:610293
Sickle Cell Anemia
Increased red cell sickling tendency, Cholelithiasis, Leukocytosis, Splenomegaly, Hepatomegaly, J... OMIM:603903
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Ollier Disease
Anemia, Lymphangioma ORPHA:296
Rhabdoid Tumor
Anemia, Thrombocytopenia, Neoplasm of the liver, Lymphadenopathy ORPHA:69077
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Immunodeficiency 81
Impaired neutrophil chemotaxis, Autoimmune hemolytic anemia, Abnormally low T cell receptor excis... OMIM:619374
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Hypothyroidism, Congenital, Nongoitrous, 6
Anemia OMIM:614450
Congenital Rubella Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Anemia, Thrombocytopenia ORPHA:290
Transcobalamin Ii Deficiency
Pancytopenia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:275350
Immunodeficiency 92
Sclerosing cholangitis, Leukocytosis, Cholangitis, Thrombocytosis, Hepatomegaly, B lymphocytopeni... OMIM:619652
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:2584
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia OMIM:605309
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, L... ORPHA:39041
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia OMIM:618067
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Congenital Erythropoietic Porphyria
Leukopenia, Anisocytosis, Splenomegaly, Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis,... ORPHA:79277
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, Neutropenia, An... ORPHA:158061
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Schistocytosis, Episodic hemolytic anemia, Folate-respons... OMIM:601775
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Anemia OMIM:226670
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Copper Deficiency, Familial Benign
Anemia OMIM:121270
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia ORPHA:3405
Fibrodysplasia Ossificans Progressiva
Anemia ORPHA:337
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Leukopenia, Jaundice, Anemia, Hemolytic anemia, Erythroid hyperplasia, Reticulocyto... ORPHA:447
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Neonatal Lupus Erythematosus
Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Hemolyti... ORPHA:398124
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis ORPHA:172
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Abnormality of the peritoneum, Lymphadenopathy, Ascites, Mediastinal lympha... ORPHA:83469
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopathy ORPHA:79477
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Exocrine pancreatic insufficiency, Abnormality of the liver, He... ORPHA:699
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
Essential Thrombocythemia
Splenomegaly, Acute leukemia, Abnormal platelet morphology ORPHA:3318
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Anemia, Cardiomegaly, Congenital thrombocytopenia OMIM:618886
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cutaneous abscess, Cervical lymphadenop... ORPHA:3392
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Perianal abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:618108
Dermotrichic Syndrome
Anemia ORPHA:99688
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Portal h... ORPHA:98850
Abetalipoproteinemia
Hepatic steatosis, Cirrhosis, Hepatomegaly, Acanthocytosis, Anemia, Reticulocytosis, Cardiomegaly... ORPHA:14
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir... OMIM:619705
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Immunodeficiency 32B
Splenomegaly OMIM:226990
Gaucher Disease, Type I
Pancytopenia, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:230800
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia OMIM:616084
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphadenitis, Au... ORPHA:331206
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Leukopenia, Hepatosplenomegaly, Periportal fibrosis, Portal hypertension, Hepa... OMIM:278000
Intermediate Osteopetrosis
Anemia, Hepatosplenomegaly ORPHA:210110
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Hepatic fibrosis OMIM:619658
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Developmental And Epileptic Encephalopathy 50
Anemia, Schistocytosis, Acanthocytosis, Anisopoikilocytosis OMIM:616457
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612926
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Hepatitis, Acute hepa... ORPHA:905
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice OMIM:121300
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:619183
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplasia... OMIM:612541
Anti-Glomerular Basement Membrane Disease
Anemia ORPHA:375
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:266120
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly OMIM:608540
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... ORPHA:86843
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Dysplastic Cortical Hyperostosis
Splenomegaly, Hepatomegaly ORPHA:2204
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop... OMIM:616100
Anemia, Congenital Dyserythropoietic, Type Iiia
Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia, Macrocytic anemia OMIM:105600
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Ascites, Cardiomegaly OMIM:269920
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Immunodeficiency 54
Lymphadenopathy, Splenomegaly, Hepatomegaly, Reduced natural killer cell count OMIM:609981
Felty Syndrome
Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Neutrope... ORPHA:47612
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... OMIM:308230
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulatory T cells, Auto... OMIM:606367
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of neu... ORPHA:381
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Micronodular cir... OMIM:606003
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia... ORPHA:508542
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Immunodeficiency 36
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia OMIM:616005
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver di... OMIM:616828
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Jaundice ORPHA:90033
Aceruloplasminemia
Anemia OMIM:604290
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Anemia, Lymphadenopathy, Ab... ORPHA:1451
Tempi Syndrome
Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Lymphopenia OMIM:617591
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Port... ORPHA:79124
Diamond-Blackfan Anemia 10
Reticulocytopenia, Anemia, Macrocytic anemia, Steroid-responsive anemia OMIM:613309
Eosinophilic Gastroenteritis
Anemia, Leukocytosis, Eosinophilia, Ascites ORPHA:2070
Solitary Rectal Ulcer Syndrome
Anemia ORPHA:209964
Niemann-Pick Disease, Type A
Microcytic anemia, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundic... OMIM:257200
Good Syndrome
Abnormal leukocyte morphology, Anemia, Aplasia/Hypoplasia of the thymus, Thymoma, Mediastinal lym... ORPHA:169105
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Gray Platelet Syndrome
Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia OMIM:139090
Cholesteryl Ester Storage Disease
Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:75234
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology ORPHA:2522
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly OMIM:612526
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Bazex Syndrome
Anemia ORPHA:166113
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Biliary tract obstruction, Splenomegaly, Hepatomegaly, Anemia, Ascites,... ORPHA:77259
Prolidase Deficiency
Splenomegaly, Hepatomegaly, Anemia, Prolonged neonatal jaundice, Thrombocytopenia OMIM:170100
Cronkhite-Canada Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:2930
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence o... OMIM:613179
Nephronophthisis 4
Anemia OMIM:606966
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:614520
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, N... ORPHA:158048
Triosephosphate Isomerase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Prolonged neonatal jaun... OMIM:615512
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Ne... OMIM:214500
Tarp Syndrome
Extramedullary hematopoiesis ORPHA:2886
Mevalonic Aciduria
Splenomegaly ORPHA:29
Lymphatic Malformation 7
Anemia OMIM:617300
Hemochromatosis, Type 2A
Cirrhosis, Splenomegaly, Hepatomegaly OMIM:602390
Neutrophilic Dermatosis, Acute Febrile
Anemia OMIM:608068
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Farber Lipogranulomatosis
Splenomegaly, Hepatomegaly, Lipogranulomatosis OMIM:228000
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Acholic sto... ORPHA:1414
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Refractory sideroblastic anemia, Sideroblastic a... OMIM:557000
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Muckle-Wells Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:575
Neuraminidase Deficiency
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Ascites, Cardiomegaly OMIM:256550
Fanconi Anemia, Complementation Group E
Pancytopenia, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia OMIM:600901
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:617388
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia OMIM:259700
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:251110
Roifman Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:616651
Hurler-Scheie Syndrome
Abnormality of the tonsils, Splenomegaly, Hepatomegaly ORPHA:93476
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:3162
Majeed Syndrome
Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Hepatomegaly, Hypochromic microcytic a... ORPHA:77297
Fanconi Anemia, Complementation Group A
Pancytopenia, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia OMIM:227650
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Thro... OMIM:267700
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Leukopenia, Pancreatitis, Jaundice, Lymphopenia, Lymphadenopathy,... ORPHA:99826
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia ORPHA:231111
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Jaundice, Anemia, Thrombocytopenia ORPHA:91547
Recessive Dystrophic Epidermolysis Bullosa Inversa
Anemia ORPHA:79409
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Leukopenia, Thrombocytopenia OMIM:613845
Classic Hodgkin Lymphoma
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly ORPHA:391
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603553
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)