Gene: Mir451a MGI:3619412

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

microRNA 451a

Synonyms:

Mirn451, mmu-mir-451, mmu-mir-451a, mir 451

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 Mir451a 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 Mir451a (0 diseases)
Human diseases predicted to be associated with Mir451a (682 diseases)

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

The table below shows human diseases predicted to be associated to Mir451a by phenotypic similarity.

Disease	Matching phenotypes	Source
Methemoglobin Reductase Deficiency	Abnormal erythrocyte morphology	OMIM:250700
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Diamond-Blackfan Anemia 19	Anemia, Steroid-responsive anemia, Erythroid hypoplasia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Fetal Cytomegalovirus Syndrome	Hepatomegaly, Anemia, Splenomegaly	ORPHA:294
Hemoglobin D Disease	Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia...	ORPHA:90039
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production	OMIM:603529
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat...	OMIM:237800
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis...	OMIM:615631
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Cyanosis, Transient Neonatal	Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice	OMIM:613977
Anemia, Congenital Dyserythropoietic, Type Ia	Prolonged neonatal jaundice, Erythroid hyperplasia, Reduced level of N-acetylglucosaminyltransfer...	OMIM:224120
Hemoglobin H Disease	Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia	OMIM:613978
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,...	ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ii	Anemia of inadequate production, Reduced level of N-acetylglucosaminyltransferase II, Cholelithia...	OMIM:224100
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro...	ORPHA:67044
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ...	OMIM:613673
Adenosine Triphosphate, Elevated, Of Erythrocytes	Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration	OMIM:102900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly	ORPHA:46532
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome	Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He...	ORPHA:3203
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion...	OMIM:603902
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Intermittent jaundice, Splenomegaly	OMIM:179700
Iron-Refractory Iron Deficiency Anemia	Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia	OMIM:206200
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp...	OMIM:616860
Glutamate-Cysteine Ligase Deficiency	Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Jaundice	ORPHA:33574
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox...	OMIM:206000
Anemia, Hypochromic Microcytic, With Iron Overload 1	Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Diamond-Blackfan Anemia 13	Elevated red cell adenosine deaminase level, Normocytic anemia	OMIM:615909
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal...	OMIM:616689
Reticuloendotheliosis, X-Linked	Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice	OMIM:312500
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A...	OMIM:300835
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,...	ORPHA:86841
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:205950
Spherocytosis, Type 5	Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice	OMIM:612690
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Delta-Beta-Thalassemia	Microcytic anemia, Anemia, Abnormal hemoglobin	ORPHA:231237
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Spherocytosis, Type 4	Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice	OMIM:612653
Sickle Cell Anemia	Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ...	ORPHA:232
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly	OMIM:185020
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice	OMIM:616649
Hemoglobin E Disease	Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ...	ORPHA:2133
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice	OMIM:185000
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an...	OMIM:235700
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice	OMIM:182900
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Erythrocytosis, Familial, 3	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin	OMIM:609820
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti...	OMIM:300908
Alpha-Thalassemia	Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo...	ORPHA:846
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro...	OMIM:133180
Dehydrated Hereditary Stomatocytosis	Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume...	ORPHA:3202
Immunodeficiency 16	Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly	OMIM:615593
Heinz Body Anemias	Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia	OMIM:140700
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly	OMIM:314050
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia	OMIM:153550
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia	OMIM:611490
Solute carrier family 4 (anion exchanger), member 1	Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero...	OMIM:109270
Harderoporphyria	Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:618892
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb...	OMIM:615285
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas	ORPHA:1195
Nephronophthisis	Anemia	ORPHA:655
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega...	OMIM:194380
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice	OMIM:266200
Pancytopenia And Occlusive Vascular Disease	Pancytopenia, Thrombocytopenia, Anemia, Leukopenia	OMIM:167850
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia, Reduced glutathione synthetase level, Glyoxalase deficiency	OMIM:231900
Hereditary Elliptocytosis	Congenital hemolytic anemia, Prolonged neonatal jaundice, Stomatocytosis, Cholelithiasis, Splenom...	ORPHA:288
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Thrombocytopenia 4	Thrombocytopenia	OMIM:612004
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume	OMIM:615234
Glut1 Deficiency Syndrome 2	Reticulocytosis	OMIM:612126
Thanatophoric Dysplasia, Glasgow Variant	Hepatosplenomegaly, Anemia	OMIM:273680
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor...	ORPHA:98870
Glycogen Storage Disease Vii	Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemoly...	OMIM:232800
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin	ORPHA:231401
Eosinophilia, Familial	Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia	OMIM:131400
Sea-Blue Histiocyte Disease	Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly	OMIM:269600
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Thrombocytopenia, Abnormal lactate dehydrogenase level, Microangiopathic hemolyt...	ORPHA:54057
Orotic Aciduria	Hypochromia, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unr...	OMIM:258900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane...	ORPHA:444463
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi...	ORPHA:71275
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi...	OMIM:619041
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly	OMIM:183350
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia	OMIM:608898
Acute Erythroid Leukemia	Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia, Pancytopenia	ORPHA:318
Familial Pseudohyperkalemia	Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume	ORPHA:90044
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Elliptocytosis 2	Reticulocytosis, Hemolytic anemia, Elliptocytosis	OMIM:130600
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume	OMIM:611590
Autoimmune Hemolytic Anemia, Cold Type	Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly	ORPHA:228312
Polycythemia Vera	Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ...	OMIM:263300
Erythrocytosis, Familial, 4	Polycythemia, Increased hematocrit, Increased hemoglobin	OMIM:611783
Bone Marrow Failure Syndrome 2	Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia	OMIM:615715
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Sitosterolemia 1	Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet...	OMIM:210250
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis	OMIM:616959
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Phosphoglycerate Kinase 1 Deficiency	Reticulocytosis, Hemolytic anemia	OMIM:300653
Immunodeficiency 69	Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia	OMIM:618963
Anemia, Sideroblastic, 5	Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia	OMIM:619523
Intrinsic Factor Deficiency	Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume	OMIM:261000
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis	OMIM:618852
Glutathione Synthetase Deficiency	Hemolytic anemia, Reduced glutathione synthetase level	ORPHA:32
Hereditary Spherocytosis	Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Extramedullary hematopoiesis, Increased mean ...	ORPHA:822
Diamond-Blackfan Anemia 3	Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F	OMIM:610629
Erythrocytosis, Familial, 1	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly	OMIM:133100
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
Thrombocytopenia, Anemia, And Myelofibrosis	Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly	OMIM:617441
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Anisocytosis, Poikilocytosis, Chronic hemoly...	OMIM:618278
Fanconi Anemia, Complementation Group T	Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity	OMIM:616435
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Anemia	OMIM:616176
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Beta-Thalassemia	Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Microcytic an...	ORPHA:848
Erythrocytosis, Familial, 8	Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti...	OMIM:222800
Diamond-Blackfan Anemia 12	Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto...	OMIM:615550
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia	ORPHA:517
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly	OMIM:615085
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly	OMIM:618495
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia, Ascites	ORPHA:295
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration	ORPHA:713
Refractory Anemia	Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari...	ORPHA:98826
Dominant Beta-Thalassemia	Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma, Persistence of hemoglo...	ORPHA:231226
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Anemia, Splenomegaly	ORPHA:75563
Diamond-Blackfan Anemia 8	Macrocytic anemia, Neutropenia, Increased mean corpuscular volume	OMIM:612563
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly	ORPHA:100024
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Imerslund-Gräsbeck Syndrome	Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce...	ORPHA:35858
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities	Hepatosplenomegaly, Hemolytic anemia, Ascites	OMIM:600461
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto...	OMIM:603552
Diamond-Blackfan Anemia 20	Anemia, Erythroid hypoplasia	OMIM:618313
Bleeding Disorder, Platelet-Type, 16	Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis	OMIM:187800
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Fanconi Anemia, Complementation Group G	Leukemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:614082
Acquired Idiopathic Sideroblastic Anemia	Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro...	ORPHA:75564
Bone Marrow Failure Syndrome 6	Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ...	OMIM:618849
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp...	OMIM:614470
Anemia, Sideroblastic, 1	Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod...	OMIM:300751
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu...	OMIM:202700
Hemochromatosis, Type 2B	Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase	OMIM:613313
Immunodeficiency 52	Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S...	OMIM:617514
Elliptocytosis 1	Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly	OMIM:611804
Diamond-Blackfan Anemia 4	Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia	OMIM:612527
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Alpha-Heavy Chain Disease	Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly	ORPHA:100025
Cernunnos-Xlf Deficiency	B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia	ORPHA:169079
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia	OMIM:610539
Formiminoglutamic Aciduria	Megaloblastic anemia, Anemia, Abnormal enzyme/coenzyme activity	ORPHA:51208
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis	OMIM:613101
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Thrombotic Thrombocytopenic Purpura, Hereditary	Prolonged neonatal jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, ...	OMIM:274150
Bone Marrow Failure Syndrome 5	Anemia, Pure red cell aplasia	OMIM:618165
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa...	OMIM:616278
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Diamond-Blackfan Anemia 5	Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia	OMIM:612528
Asplenia, Isolated Congenital	Thrombocytosis, Howell-Jolly bodies, Asplenia	OMIM:271400
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia	OMIM:618660
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Malaria	Thrombocytopenia, Anemia	ORPHA:673
Rosaï-Dorfman Disease	Lymphadenopathy, Anemia	ORPHA:158014
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly	OMIM:608971
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ...	ORPHA:2585
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg...	OMIM:619375
Erythrocytosis, Familial, 2	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin	OMIM:263400
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Hyperlysinemia, Type I	Anemia	OMIM:238700
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg...	OMIM:612840
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons...	OMIM:613470
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity	OMIM:617243
Senior-Loken Syndrome 1	Anemia	OMIM:266900
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Immunodeficiency 48	Hepatomegaly, Splenomegaly	OMIM:269840
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto...	OMIM:159550
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ...	OMIM:619220
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Elevated hepatic iron concentration, Anemia, Hepatosplenomegaly, Dysplastic ...	ORPHA:300298
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Anemia	OMIM:610090
Protoporphyria, Erythropoietic, X-Linked	Iron deficiency anemia, Cholelithiasis, Elevated hepatic transaminase	OMIM:300752
Diamond-Blackfan Anemia 6	Macrocytic anemia, Increased mean corpuscular volume, Patent ductus arteriosus, Persistence of he...	OMIM:612561
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia	OMIM:235400
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia	OMIM:616871
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase	OMIM:614480
Majeed Syndrome	Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ...	OMIM:609628
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly	OMIM:615947
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Focal Segmental Glomerulosclerosis 1	Anemia	OMIM:603278
Schnitzler Syndrome	Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly	ORPHA:37748
Infantile Liver Failure Syndrome 1	Macrocytic anemia, Hepatomegaly, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat...	OMIM:615438
Chronic Myeloid Leukemia	Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple...	ORPHA:521
Glycogen Storage Disease Xii	Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an...	OMIM:611881
Congenital Toxoplasmosis	Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Cardiomegaly, Elevated hepatic transaminase, Thro...	ORPHA:858
Immunodeficiency 27A	Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Splenomega...	OMIM:209950
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites	Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis	OMIM:141700
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq...	OMIM:612714
Oslam Syndrome	Anemia	OMIM:165660
Primary Myelofibrosis	Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome...	ORPHA:824
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Ascites, Anemia, Patent ductus arteriosus, Thrombocytopenia	ORPHA:2123
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia	ORPHA:28
Dohle Bodies And Leukemia	Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies	OMIM:223350
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F...	OMIM:601859
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Reduced beta/alpha synthesis ratio	OMIM:609057
Omenn Syndrome	B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,...	OMIM:603554
Kasabach-Merritt Syndrome	Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Abnormal lymphatic vessel morphology,...	ORPHA:2330
Cold Agglutinin Disease	Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly	ORPHA:56425
Bone Marrow Failure Syndrome 4	Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia	OMIM:618116
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production	OMIM:300367
Tyrosinemia Type 1	Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia, Jaundice	OMIM:301015
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly	OMIM:618398
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Wolman Disease	Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly, Hepatic failure	ORPHA:75233
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis	OMIM:266140
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis	ORPHA:66661
Nephrotic Syndrome, Type 7	Thrombocytopenia, Hemolytic anemia	OMIM:615008
Leishmaniasis	Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Splenomegaly, A...	ORPHA:507
Idiopathic Aplastic Anemia	Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopenia	ORPHA:88
Gaucher Disease, Type Ii	Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly	OMIM:230900
Beta-Thalassemia Intermedia	Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel...	ORPHA:231222
Tempi Syndrome	Polycythemia, Increased hematocrit, Ascites	ORPHA:284227
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Elliptocytosis 3	Pyropoikilocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume, Intermittent jau...	OMIM:617948
Combined Immunodeficiency Due To Partial Rag1 Deficiency	B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy...	ORPHA:231154
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Reduced lysosomal acid l...	OMIM:278000
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methylmalonyl-CoA mutase activity, Megaloblastic anemia, Increased mean corpuscular vol...	OMIM:277410
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Ascites, Splenomegaly	ORPHA:1046
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly	OMIM:607616
Transaldolase Deficiency	Cirrhosis, Thrombocytopenia, Hepatosplenomegaly, Anemia	ORPHA:101028
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level	OMIM:102730
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia	ORPHA:79402
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia	OMIM:616738
Immunodeficiency 76	B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia	OMIM:619164
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Anemia	OMIM:619302
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Lymphoproliferative Syndrome 1	Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec...	OMIM:613011
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:619658
Babesiosis	Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Thrombocytopenia, Hemolytic anemia, Jaun...	ORPHA:108
Lecithin:Cholesterol Acyltransferase Deficiency	Normochromic anemia, Hemolytic anemia	OMIM:245900
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Immunodeficiency 64	Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro...	OMIM:618534
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thro...	OMIM:610333
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia	ORPHA:2598
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Peritonitis, Pancreatitis, Incre...	ORPHA:90038
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen...	OMIM:619463
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnormality of the p...	ORPHA:54251
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Elevated hepatic transaminas...	ORPHA:158057
Gaucher Disease, Type Iii	Hepatomegaly, Splenomegaly, Decreased beta-glucocerebrosidase level, Pancytopenia, Thrombocytopenia	OMIM:231000
Gamma-Heavy Chain Disease	Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t...	ORPHA:100026
Macrophage Activation Syndrome	Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Decreased liver func...	ORPHA:158061
Immunodeficiency 14A, Autosomal Dominant	Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel...	OMIM:615513
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Splenomegaly	OMIM:618541
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Hemolytic anemia, Splenomegaly	OMIM:608885
Hemochromatosis, Type 3	Neutropenia, Anemia, Cirrhosis, Lymphopenia, Elevated hepatic transaminase	OMIM:604250
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia	OMIM:231095
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Anemia, Abnormality of neutrophils, Leukopenia	ORPHA:33355
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi...	OMIM:615559
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina...	OMIM:617780
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia	ORPHA:79312
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Pericardial Effusion, Chronic	Polycythemia	OMIM:260900
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Autoimmune Lymphoproliferative Syndrome	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ...	ORPHA:3261
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly	OMIM:153670
Autoimmune Hemolytic Anemia	Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly	ORPHA:98375
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly	ORPHA:79238
Amed Syndrome, Digenic	Leukopenia, Bone marrow hypocellularity, Anemia, Acute myeloid leukemia, Thrombocytopenia	OMIM:619151
Heme Oxygenase 1 Deficiency	Thrombocytosis, Hepatomegaly, Asplenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Elevat...	OMIM:614034
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Hepatic steatosis	OMIM:606069
Congenital Rubella Syndrome	Hepatomegaly, Anemia, Patent ductus arteriosus, Splenomegaly, Thrombocytopenia, Jaundice	ORPHA:290
Galactosemia Iii	Jaundice, Hepatomegaly, Splenomegaly	OMIM:230350
Congenital Erythropoietic Porphyria	Erythroid hyperplasia, Leukopenia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, T...	ORPHA:79277
Indolent Systemic Mastocytosis	Hepatomegaly, Elevated total serum tryptase, Lymphadenopathy, Abnormal mast cell morphology, Sple...	ORPHA:98848
Rh-Null, Regulator Type	Stomatocytosis, Hemolytic anemia, Jaundice	OMIM:268150
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Hypochromic microcytic anemia, Sideroblastic anemia	OMIM:301310
Cinca Syndrome	Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Aggressive Systemic Mastocytosis	Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Elevated total serum tryptase, Leukemia, Ly...	ORPHA:98850
Sea-Blue Histiocytosis	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Hepatoportal Sclerosis	Leukopenia, Hepatocellular carcinoma, Ascites, Anemia, Nodular regenerative hyperplasia of liver,...	ORPHA:64743
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated circulating a...	OMIM:214900
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans...	ORPHA:79301
Intermediate Osteopetrosis	Hepatosplenomegaly, Anemia, Elevated circulating alkaline phosphatase concentration	ORPHA:210110
Acute Monoblastic/Monocytic Leukemia	Leukocytosis, Anemia, Hypochromic anemia, Increased circulating lactate dehydrogenase concentrati...	ORPHA:514
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia	OMIM:614946
Aregenerative Anemia	Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul...	ORPHA:101096
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be...	OMIM:603909
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Wilson Disease	Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acu...	ORPHA:905
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Hepatomegaly, Leukopenia, Anemia, Pancreatitis, Thrombocytopenia	ORPHA:27
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis	OMIM:271500
Megaloblastic Anemia, Folate-Responsive	Schistocytosis, Episodic hemolytic anemia, Increased circulating lactate dehydrogenase concentrat...	OMIM:601775
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Intermittent thrombocyto...	OMIM:150550
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease...	OMIM:300853
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Spleno...	OMIM:616828
Coach Syndrome 3	Anemia, Portal fibrosis	OMIM:619113
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia	OMIM:300946
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1	Mediastinal lymphadenopathy, Anemia, Bone marrow hypocellularity, Myeloid leukemia, Cirrhosis, Pa...	OMIM:614742
Autoinflammation With Infantile Enterocolitis	Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia	OMIM:616050
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Neonatal Lupus Erythematosus	Hemolytic anemia, Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly,...	ORPHA:398124
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Hep...	OMIM:308240
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly	OMIM:616719
Hydatidiform Mole	Anemia	ORPHA:99927
Letterer-Siwe Disease	Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Jaundice	OMIM:246400
Isolated Agammaglobulinemia	Abnormality of the lymphatic system, Abnormal lymphocyte morphology, Anemia, Abnormality of the t...	ORPHA:229717
Tufted Angioma	Thrombocytopenia, Anemia	ORPHA:1063
Familial Benign Copper Deficiency	Anemia	ORPHA:1551
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Pearson Syndrome	Hepatomegaly, Neutropenia, Macronodular cirrhosis, Elevated hepatic transaminase, Anemia, Bone ma...	ORPHA:699
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Rhabdoid Tumor	Lymphadenopathy, Thrombocytopenia, Anemia, Neoplasm of the liver	ORPHA:69077
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis	OMIM:300635
Beta-Thalassemia Major	Hepatomegaly, Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellula...	ORPHA:231214
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Ascites, Anemia, Patent ductus arteriosus, Decreased liver function, Cholestasis, T...	OMIM:608104
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Aicardi-Goutieres Syndrome 7	Thrombocytopenia, Hepatomegaly, Splenomegaly	OMIM:615846
Stormorken Syndrome	Thrombocytopenia, Howell-Jolly bodies, Anemia, Asplenia	OMIM:185070
Paroxysmal Nocturnal Hemoglobinuria	Leukopenia, Erythroid hyperplasia, Anemia, Increased circulating lactate dehydrogenase concentrat...	ORPHA:447
Diamond-Blackfan Anemia 11	Anemia, Neutropenia, Bone marrow hypocellularity, Anemia of inadequate production	OMIM:614900
Transaldolase Deficiency	Hepatomegaly, Hepatic fibrosis, Anemia, Micronodular cirrhosis, Patent ductus arteriosus, Splenom...	OMIM:606003
Sickle Cell Anemia	Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli...	OMIM:603903
Abetalipoproteinemia	Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Acanthocytosis, Anemia, Cardiomega...	ORPHA:14
Ollier Disease	Lymphangioma, Anemia	ORPHA:296
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Cholelithiasis, Hepatic failure	OMIM:177000
Hypothyroidism, Congenital, Nongoitrous, 6	Anemia	OMIM:614450
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Cholestasis, Splenomegaly	ORPHA:172
Triosephosphate Isomerase Deficiency	Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C...	OMIM:615512
Shwachman-Diamond Syndrome 1	Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Persistence of hemoglobin F, Ac...	OMIM:260400
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Abnormality of the liver, Panc...	ORPHA:2169
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Osteopetrosis, Autosomal Recessive 2	Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia	OMIM:259710
Gaucher Disease, Type I	Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia	OMIM:230800
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Anemia	OMIM:226670
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Lymphoproliferative Syndrome 2	Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ...	OMIM:615122
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612926
Fibrodysplasia Ossificans Progressiva	Anemia	ORPHA:337
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Mediastinal lymphadenopathy, Ascites, Lymphadenopathy, Anemia, Abnormality of the p...	ORPHA:83469
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Dermotrichic Syndrome	Anemia	ORPHA:99688
Diamond-Blackfan Anemia 10	Macrocytic anemia, Anemia, Reticulocytopenia, Patent ductus arteriosus	OMIM:613309
Anemia, Congenital Dyserythropoietic, Type Iiia	Jaundice, Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production	OMIM:105600
Pseudo-Torch Syndrome 3	Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Congenital thrombocytopenia	OMIM:618886
Diamond-Blackfan Anemia 7	Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Patent ductus arteriosus	OMIM:612562
Niemann-Pick Disease, Type A	Hepatomegaly, Ascites, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Elevated circulatin...	OMIM:257200
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Splenomegaly	OMIM:619046
Hereditary Orotic Aciduria	Anemia, Patent ductus arteriosus, Splenomegaly	ORPHA:30
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Hepatitis, Splenomegaly, Cirrhosis, ...	OMIM:613812
Immunodeficiency, Common Variable, 1	B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen...	OMIM:607594
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice	ORPHA:75234
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Anisopoikilocytosis, Anemia, Schistocytosis	OMIM:616457
Omenn Syndrome	Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly...	ORPHA:39041
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoi...	OMIM:259720
Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98293
Hypermanganesemia With Dystonia 1	Hepatomegaly, Polycythemia, Decreased liver function, Cirrhosis, Elevated hepatic transaminase	OMIM:613280
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired oxidative burst, Lymph...	OMIM:618935
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Neutropenia, Reticulocytopenia	OMIM:275350
Proteasome-Associated Autoinflammatory Syndrome 4	Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly	OMIM:619183
Prolidase Deficiency	Hepatomegaly, Anemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration...	OMIM:170100
Immunodeficiency 32B	Splenomegaly	OMIM:226990
Griscelli Syndrome Type 2	Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice	ORPHA:79477
Follicular Lymphoma	Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly	ORPHA:545
Essential Thrombocythemia	Abnormal platelet morphology, Acute leukemia, Splenomegaly	ORPHA:3318
Anti-Glomerular Basement Membrane Disease	Anemia	ORPHA:375
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Elevated circulating alkaline phosphat...	OMIM:235555
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune...	OMIM:616100
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom...	ORPHA:3226
Classic Mycosis Fungoides	Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly	ORPHA:2584
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Hepatitis, Anemia, Autoimmune thr...	OMIM:304790
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Anemia, Splenomegaly, Increased circulating lactate dehydrogenase concentration, El...	OMIM:259700
Nephronophthisis 19	Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis	OMIM:616217
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Neutropenia, Chronic hepatitis, Sclerosing cholangitis, Hepatitis, Splenomegaly, Ci...	OMIM:308230
Amyloidosis, Familial Visceral	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Patent duct...	OMIM:612541
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic anemia	ORPHA:169090
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Splenomega...	OMIM:602347
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod...	OMIM:251880
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Lymphopenia, Elevated hepatic transaminase, ...	OMIM:617591
Autoimmune Hemolytic Anemia, Warm Type	Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90033
Aceruloplasminemia	Anemia	OMIM:604290
Coproporphyria, Hereditary	Jaundice, Hepatomegaly, Splenomegaly	OMIM:121300
Farber Lipogranulomatosis	Hepatomegaly, Lipogranulomatosis, Decreased acid ceramidase activity, Splenomegaly	OMIM:228000
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho...	OMIM:617394
Poikiloderma With Neutropenia	Increased circulating lactate dehydrogenase concentration, Neutropenia, Splenomegaly	OMIM:604173
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Portal hypertension, Hepatomegaly, Ascites, Elevated hepatic transaminase, Absence of lymph node ...	ORPHA:79124
Ornithine Transcarbamylase Deficiency	Hepatic failure, Splenomegaly	ORPHA:664
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Shwachman-Diamond Syndrome	Chronic neutropenia, Macrocytic anemia, Hepatomegaly, Neutropenia, Normocytic anemia, Leukopenia,...	ORPHA:811
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Anemia, Thrombocytopenia, Neutropenia, Decreased methionine synthase activity	OMIM:614857
Felty Syndrome	Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Bone marrow h...	ORPHA:47612
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly	OMIM:608540
Dysplastic Cortical Hyperostosis	Hepatomegaly, Splenomegaly	ORPHA:2204
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c	OMIM:610582
Relapsing Fever	Leukocytosis, Leukopenia, Anemia, Neutrophilia, Increased circulating lactate dehydrogenase conce...	ORPHA:91547
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Anemia	ORPHA:2325
Fetal Gaucher Disease	Abnormality of the spleen, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia	ORPHA:85212
Solitary Rectal Ulcer Syndrome	Anemia	ORPHA:209964
Spondylometaphyseal Dysplasia, Axial	Splenomegaly	OMIM:602271
Cinca Syndrome	Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Blackfan-Diamond Anemia	Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu...	ORPHA:124
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Thymoma, Aplasia/Hypoplasia of the thymus, Thrombocytopenia,...	ORPHA:169105
Gray Platelet Syndrome	Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly	OMIM:139090
Griscelli Syndrome	Hepatomegaly, Leukopenia, Ascites, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen...	ORPHA:381
Macrocephaly/Autism Syndrome	Hepatomegaly, Lymphopenia, Splenomegaly	OMIM:605309
Bazex Syndrome	Anemia	ORPHA:166113
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormal T cell s...	ORPHA:158048
Systemic Mastocytosis With Associated Hematologic Neoplasm	Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Elevated total serum t...	ORPHA:98849
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Cholestatic liver disease, Decr...	ORPHA:540
Osteopetrosis, Autosomal Recessive 3	Hepatosplenomegaly, Anemia, Extramedullary hematopoiesis	OMIM:259730
Pfapa Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:42642
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c	OMIM:618858
Gaucher Disease Type 1	Hepatomegaly, Leukopenia, Ascites, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hy...	ORPHA:77259
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Neutropenia, Anemia, Decreased methylmalonyl-CoA mutase activity, Pancytopenia, Thr...	OMIM:251110
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Elevated circulating alkaline ph...	OMIM:601847
Nephronophthisis 4	Anemia	OMIM:606966
Infantile Sialic Acid Storage Disease	Hepatomegaly, Ascites, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly	OMIM:269920
Cronkhite-Canada Syndrome	Hepatomegaly, Anemia, Splenomegaly	ORPHA:2930
Fish-Eye Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Lymphatic Malformation 7	Anemia	OMIM:617300
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Anemia	OMIM:618835
Pseudo-Torch Syndrome 1	Hepatomegaly, Splenomegaly, Decreased liver function, Elevated hepatic transaminase, Thrombocytop...	OMIM:251290
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Anemia	OMIM:618839
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity	OMIM:614520
Interstitial Lung And Liver Disease	Thrombocytosis, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated gamma-glutamyltransferase level,...	OMIM:615486
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, Splenomegaly	OMIM:616084
Mevalonic Aciduria	Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Lymphadenopathy, Anemia, F...	OMIM:610377
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl...	ORPHA:1414
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Megaloblastic anemia, Cholelithiasis	ORPHA:309108
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Patent ductus ...	OMIM:141750
Chediak-Higashi Syndrome	Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil...	OMIM:214500
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Splenomegaly, H...	OMIM:603553
Eosinophilic Gastroenteritis	Leukocytosis, Eosinophilia, Anemia, Ascites	ORPHA:2070
Acute Panmyelosis With Myelofibrosis	Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,...	ORPHA:86843
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Pure red cell aplasi...	OMIM:613179
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice	ORPHA:59303
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Anemia, Hepatic failure	OMIM:607426
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly	OMIM:618394
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Neutropenia, Anemia, Decreased methylmalonyl-CoA mutase activity, Pancytopenia, Thr...	OMIM:251100
Muckle-Wells Syndrome	Hepatomegaly, Anemia, Splenomegaly	ORPHA:575
Marburg Hemorrhagic Fever	Leukopenia, Elevated hepatic transaminase, Neutrophilia in presence of infection, Lymphadenopathy...	ORPHA:99826
Neutrophilic Dermatosis, Acute Febrile	Anemia	OMIM:608068
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Anemia	ORPHA:231111
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly	OMIM:609981
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Hepatomegaly, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasi...	OMIM:102700
Adult-Onset Still Disease	Leukocytosis, Hepatomegaly, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, G...	ORPHA:829
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Splenomegaly	OMIM:602390
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ...	OMIM:608203
Propionic Acidemia	Hepatomegaly, Propionyl-CoA carboxylase deficiency, Neutropenia, Anemia, Pancreatitis, Pancytopen...	OMIM:606054
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly	OMIM:607271
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytos...	OMIM:267700
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Abnormality of the liver, Autoimmune thrombocytopenia, Lymphopenia...	ORPHA:1572
Congenital Enterovirus Infection

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