Gene: Gata1 MGI:95661

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

GATA binding protein 1

Synonyms:

Gata-1, Gf-1

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 Gata1 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 Gata1 (9 diseases)
Human diseases predicted to be associated with Gata1 (1294 diseases)

The table below shows human diseases associated to Gata1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen...	OMIM:314050
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Abnormal megakaryocyte morphology, Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombo...	ORPHA:67044
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell...	OMIM:300835
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis	OMIM:300367
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia	OMIM:301083
Congenital Erythropoietic Porphyria	Leukopenia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi...	ORPHA:79277
Blackfan-Diamond Anemia	Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi...	ORPHA:124
Down Syndrome	Atrioventricular canal defect, Patent foramen ovale, Double outlet right ventricle, Ventricular s...	OMIM:190685

The table below shows human diseases predicted to be associated to Gata1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Anemia, 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
Iron Overload In Africa	Elevated transferrin saturation	OMIM:601195
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Dermatitis Herpetiformis, Familial	Pruritus	OMIM:601230
Pruritus, Hereditary Localized	Pruritus	OMIM:177100
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:615193
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly, Hepatomegaly	ORPHA:294
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Anisopoikilocytosis, Myelofibrosis, Thrombocytopenia, Splenomegaly	OMIM:617441
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Bleeding Disorder, Platelet-Type, 16	Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ...	OMIM:187800
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase level	OMIM:615909
Essential Thrombocythemia	Abnormality of thrombocytes, Increased megakaryocyte count, Myelofibrosis, Abnormal platelet morp...	ORPHA:3318
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia...	OMIM:615285
Ghosal Hematodiaphyseal Dysplasia	Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Bone m...	OMIM:231095
Bleeding Disorder, Platelet-Type, 24	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:619271
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies	OMIM:140700
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Thrombocytopenic Purpura, Autoimmune	Thrombocytopenia	OMIM:188030
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Myelofibrosis, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis,...	OMIM:301078
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Delta-Beta-Thalassemia	Anemia, Abnormal hemoglobin, Microcytic anemia	ORPHA:231237
Lichen Amyloidosis	Pruritus	ORPHA:49804
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Acute myelomonocytic leukemia, Abnormal megakaryocyte morphology, Lymphoc...	ORPHA:86843
Hemoglobin H Disease	Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly	OMIM:613978
Thrombocytopenia 2	Thrombocytopenia, Leukocytosis	OMIM:188000
Erythrocytosis, Familial, 8	Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia	OMIM:222800
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen...	OMIM:314050
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
Gray Platelet Syndrome	Abnormal number of alpha granules, Myelofibrosis, Impaired collagen-induced platelet aggregation,...	OMIM:139090
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia	OMIM:205950
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Leukocyte Adhesion Deficiency, Type Iii	Abnormality of thrombocytes, Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocyt...	OMIM:612840
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
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg...	OMIM:615631
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen...	OMIM:133180
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Myelofibrosis, Macrothrombocytopenia, Increase...	OMIM:187900
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Abnormal megakaryocyte morphology, Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombo...	ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho...	ORPHA:766
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circulating ...	OMIM:615517
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Amegakaryocytic Thrombocytopenia, Congenital	Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia	OMIM:604498
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification	ORPHA:3319
Thrombocytopenia 6	Bone marrow hypercellularity, Thrombocytopenia, Osteoporosis, Myelofibrosis	OMIM:616937
Primary Myelofibrosis	Anemia, Abnormal megakaryocyte morphology, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Bone...	ORPHA:824
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia	OMIM:153550
Immunodeficiency 18	Recurrent respiratory infections, Lymphopenia, Decreased proportion of CD3-positive T cells	OMIM:615615
Castleman Disease	Anemia, Jaundice, Generalized lymphadenopathy, Myelofibrosis, Decreased mean corpuscular volume, ...	ORPHA:160
Thrombocytopenia 7	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:619130
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu...	OMIM:155100
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Osteopetrosis, Autosomal Recessive 2	Anemia, Osteomyelitis, Recurrent fractures, Osteopetrosis, Pancytopenia, Hepatosplenomegaly, Decr...	OMIM:259710
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati...	OMIM:620121
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Immunodeficiency 24	Respiratory tract infection, Reduced proportion of mucosal-associated invariant T cells, Decrease...	OMIM:615897
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Hypersplenism, Osteopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:610539
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Beta-Thalassemia Intermedia	Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Decreased liver function, Splenomegal...	ORPHA:231222
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa...	OMIM:617443
Anemia, Sideroblastic, 5	Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis	OMIM:603529
Eosinophilia, Familial	Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia	OMIM:131400
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Immunodeficiency 50	Neutropenia, Recurrent respiratory infections, Lymphopenia, Decreased circulating antibody level	OMIM:300988
Bernard-Soulier Syndrome	Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant ...	OMIM:231200
Erythrocytosis, Familial, 3	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin	OMIM:609820
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Bone marrow hypocellularity, Hepatomegaly, Hypochromic anemia, Thrombocyt...	ORPHA:75564
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegaly, Elevated hepatic iron co...	OMIM:615234
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Myelofibrosis	Splenomegaly, Myelofibrosis, Myeloproliferative disorder	OMIM:254450
Hyperbilirubinemia, Shunt, Primary	Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ...	OMIM:237800
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Melorheostosis With Osteopoikilosis	Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Erythrocytosis, Familial, 6	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:617980
Nephronophthisis	Anemia	ORPHA:655
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Bleeding Disorder, Platelet-Type, 19	Anemia, Thrombocytopenia, Macrothrombocytopenia	OMIM:616176
Immunodeficiency 95	Increased circulating IgG3 level, Respiratory distress, Lymphopenia, Decreased circulating IgG3 l...	OMIM:619773
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Erythrocytosis, Familial, 5	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:617907
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Thrombocytopenia, Osteopetrosis, Splenomegaly	OMIM:615085
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Spherocytosis, Type 5	Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S...	OMIM:612690
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund...	OMIM:616689
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets	ORPHA:238459
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Genetic Hyperferritinemia Without Iron Overload	Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti...	ORPHA:254704
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, Neutropenia, B lymphocytopenia	OMIM:613107
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po...	OMIM:224120
Myh9-Related Disease	Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platelet volume, Giant p...	ORPHA:182050
Ghosal Hematodiaphyseal Dysplasia	Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly	ORPHA:1802
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,...	OMIM:603552
Acute Myelomonocytic Leukemia	Anemia, Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia	ORPHA:517
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Systemic Lupus Erythematosus 16	Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Antinuclear antibod...	OMIM:614420
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:607616
Bone Marrow Failure Syndrome 2	Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity	OMIM:615715
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi...	ORPHA:444463
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Mu-Heavy Chain Disease	Anemia, Splenomegaly, Abnormal B cell count, Osteolysis, Lymphadenopathy, Hepatomegaly, Osteoporo...	ORPHA:100024
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell...	OMIM:300835
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy...	OMIM:613673
Idiopathic Hypereosinophilic Syndrome	Anemia, Arthritis, Neutrophilia, Pancreatitis, Generalized lymphadenopathy, Myelofibrosis, Hepato...	ORPHA:3260
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Neonatal death, Hepatosplenomegaly	OMIM:273680
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Hereditary Spherocytosis	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti...	ORPHA:822
Autoimmune Hemolytic Anemia, Cold Type	Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia, Pallor	ORPHA:228312
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis	OMIM:269600
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Refractory Anemia	Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane...	ORPHA:98826
Polycythemia Vera	Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen...	OMIM:263300
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Abnormality of the liver, Hepatomegaly	ORPHA:1980
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Erythrocytosis, Familial, 4	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:611783
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of ...	OMIM:300751
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to tetanus vaccine, Lymphopenia, ...	OMIM:615401
Osteopetrosis, Autosomal Recessive 4	Anemia, Recurrent fractures, Increased bone mineral density, Reticulocytosis, Hepatomegaly, Throm...	OMIM:611490
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly	ORPHA:721
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly	OMIM:615010
Forsythe-Wakeling Syndrome	Thrombocytopenia, Osteoporosis	OMIM:613606
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Portal vein thrombosis, Portal hypertension, Acute leukemia, Splenom...	ORPHA:729
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Preeclampsia/Eclampsia 1	Thrombocytopenia, Elevated hepatic transaminase	OMIM:189800
Hereditary Elliptocytosis	Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Reticulo...	ORPHA:288
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem...	OMIM:153670
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis...	OMIM:300908
Osteopetrosis, Autosomal Recessive 5	Anemia, Hepatic failure, Osteopetrosis, Increased bone mineral density, Ascites, Pancytopenia, He...	OMIM:259720
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc...	OMIM:202700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume	OMIM:252270
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Elliptocytosis, Anemia of inadequate production, Hemolytic anemia	OMIM:166910
Congenital Atransferrinemia	Arthritis, Anemia, Abnormality of the pancreas	ORPHA:1195
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea...	ORPHA:3203
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia	OMIM:616604
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:614082
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Hyperostosis Corticalis Generalisata	Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis	ORPHA:3416
Beta-Thalassemia Major	Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased ...	ORPHA:231214
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Dehydrated Hereditary Stomatocytosis	Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ...	ORPHA:3202
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Cranial hyperosto...	OMIM:259730
Dominant Beta-Thalassemia	Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Jaundice, Decreased mean corpus...	ORPHA:231226
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Pn...	OMIM:247800
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Beta-Thalassemia	Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomeg...	ORPHA:848
Immunodeficiency 69	Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly	OMIM:618963
Gnathodiaphyseal Dysplasia	Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Recurrent fractures	ORPHA:53697
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia	OMIM:206100
Intermediate Osteopetrosis	Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Generalized os...	ORPHA:210110
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc...	OMIM:619041
Alpha-Thalassemia	Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg...	ORPHA:846
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis	OMIM:300367
Iron-Refractory Iron Deficiency Anemia	Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis	OMIM:206200
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Anemia	OMIM:619302
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly	OMIM:610329
Fetal Parvovirus Syndrome	Ascites, Anemia, Thrombocytopenia	ORPHA:295
Platelet Signal Processing Defect	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a...	OMIM:173590
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Spherocytosis, Type 2	Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis	OMIM:616649
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Autoinflammation With Episodic Fever And Lymphadenopathy	Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis	OMIM:618852
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly, Hepatomegaly	OMIM:606445
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a...	OMIM:159550
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly	OMIM:613101
Gamma-Heavy Chain Disease	Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Osteolysi...	ORPHA:100026
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti...	OMIM:617514
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Spherocytosis, Type 4	Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis	OMIM:612653
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly	OMIM:224100
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly	OMIM:608898
Spherocytosis, Type 1	Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis	OMIM:182900
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Autoimmunity	OMIM:216950
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly	OMIM:185000
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Babesiosis	Leukopenia, Hepatic failure, Hemolytic anemia, Jaundice, Limitation of joint mobility, Hepatomega...	ORPHA:108
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu...	OMIM:614470
Schnitzler Syndrome	Anemia, Increased bone mineral density, Arthritis, Lymphadenopathy, Leukocytosis, Hepatomegaly, S...	ORPHA:37748
Congenital Toxoplasmosis	Anemia, Ascites, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hepatomegaly, Cardiome...	ORPHA:858
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Sitosterolemia 1	Stomatocytosis, Anemia, Arthritis, Reticulocytosis, Impaired platelet aggregation, Episodic hemol...	OMIM:210250
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb...	OMIM:226990
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Jaundice, Elevated hepatic transaminase, Rickets, Hepatic steatosis, Giant cell ...	ORPHA:79303
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Elevated hepatic transaminase, Poikilocytosis, Abnormal erythrocyte morphology, Anisocyto...	ORPHA:98870
Acute Erythroid Leukemia	Erythroid hypoplasia, Leukopenia, Anemia, Pancytopenia	ORPHA:318
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron	OMIM:603358
Aggressive Systemic Mastocytosis	Anemia, Decreased liver function, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Pathologic fra...	ORPHA:98850
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Rosaï-Dorfman Disease	Osteolysis, Anemia, Lymphadenopathy	ORPHA:158014
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Leishmaniasis	Leukopenia, Anemia, Abnormal macrophage morphology, Elevated hepatic transaminase, Pancytopenia, ...	ORPHA:507
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating alanine aminotransferase concentration, Joint laxity, Elevated circulating a...	OMIM:614727
Erythrocytosis, Familial, 1	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly	OMIM:133100
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa...	ORPHA:35858
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Elevated hepatic transa...	ORPHA:300298
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Hyperlysinemia, Type I	Anemia	OMIM:238700
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio	OMIM:300448
Diamond-Blackfan Anemia 20	Anemia, Erythroid hypoplasia	OMIM:618313
Sickle Cell Disease	Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Leuko...	OMIM:603903
Osteopetrosis, Autosomal Dominant 3	Anemia, Recurrent fractures, Osteopenia, Hepatomegaly, Splenomegaly	OMIM:618107
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failure, Acute lymphob...	ORPHA:158057
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr...	OMIM:187950
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Cyanosis, Transient Neonatal	Methemoglobinemia, Anemia, Reticulocytosis	OMIM:613977
C1Q Deficiency 1	Systemic lupus erythematosus, Autoimmunity	OMIM:613652
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia	OMIM:229050
Elliptocytosis 1	Elliptocytosis, Splenomegaly, Hemolytic anemia, Jaundice	OMIM:611804
Immunodeficiency 84	Splenomegaly, B lymphocytopenia, Perianal abscess	OMIM:619437
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:616435
Specific Granule Deficiency 2	Anemia, Bone marrow maturation arrest, Absent neutrophil specific granules, Osteopenia, Thrombocy...	OMIM:617475
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Isolated Agammaglobulinemia	Anemia, Arthritis, Abnormality of the lymphatic system, Abnormality of neutrophils, Recurrent cut...	ORPHA:229717
Wt Limb-Blood Syndrome	Radioulnar synostosis, Pancytopenia, Joint contracture of the 5th finger, Thrombocytopenia, Leuke...	OMIM:194350
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, ...	OMIM:610333
Transaldolase Deficiency	Cirrhosis, Anemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:101028
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph...	OMIM:613011
Fetal Gaucher Disease	Flexion contracture, Pancytopenia, Arthrogryposis multiplex congenita, Thrombocytopenia, Hepatome...	ORPHA:85212
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly	ORPHA:79312
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Hypersegmentation of neutrophil nuclei, Folate-respons...	OMIM:601775
Fgfr2-Related Bent Bone Dysplasia	Coronal craniosynostosis, Hepatosplenomegaly, Incomplete ossification of pubis, Osteopenia, Decre...	ORPHA:313855
Bone Marrow Failure Syndrome 4	Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity	OMIM:618116
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Recurrent respiratory infections, Ag...	OMIM:615214
Ovalocytosis, Southeast Asian	Elliptocytosis, Hemolytic anemia	OMIM:166900
Felty Syndrome	Anemia, Arthritis, Synovitis, Limitation of joint mobility, Osteolysis, Lymphadenopathy, Bone mar...	ORPHA:47612
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Cirrhosis, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Leukopenia, Acute myeloid leukemia, Abnormal megakaryocyte morphology, Abnormality of neutrophil ...	ORPHA:86841
Gaucher Disease Type 1	Leukopenia, Anemia, Cirrhosis, Hypersplenism, Increased bone mineral density, Pancytopenia, Bilia...	ORPHA:77259
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormal macrophage morphology, Abnormal platelet function, Pancyt...	ORPHA:2585
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Pallor	ORPHA:75563
Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope...	OMIM:169400
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Pyropoikilocytosis, Hereditary	Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis	OMIM:266140
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Congenital thrombocytopenia, Radioulnar synostosis, Limited pronation/supination of forea...	OMIM:616738
Chilblain Lupus	Pruritis on hand, Malar rash, Inflammatory abnormality of the skin, Discoid lupus rash, Skin rash...	ORPHA:90280
Nephrotic Syndrome, Type 7	Thrombocytopenia, Hemolytic anemia	OMIM:615008
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Rh Deficiency Syndrome	Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Ma...	ORPHA:71275
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly	OMIM:616050
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Hepatoportal Sclerosis	Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism...	ORPHA:64743
Asplenia, Isolated Congenital	Asplenia, Howell-Jolly bodies, Thrombocytosis	OMIM:271400
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
X-Linked Severe Congenital Neutropenia	Neutropenia, Monocytopenia	ORPHA:86788
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM	OMIM:610798
Combined Cellular And Humoral Immune Defects With Granulomas	Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG...	OMIM:233650
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Thrombocytopenia, Sideroblastic anemia	OMIM:617021
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent isohemagglutinin level, Recurrent bronchitis, Absent circulati...	OMIM:613501
Osteopetrosis, Autosomal Recessive 1	Anemia, Osteomyelitis, Calvarial osteosclerosis, Increased bone mineral density, Pancytopenia, Pa...	OMIM:259700
Alpha-Heavy Chain Disease	Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly	ORPHA:100025
Hemochromatosis, Type 2B	Hepatic fibrosis, Anemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly	OMIM:613313
Amed Syndrome, Digenic	Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:619151
Elliptocytosis 3	Intermittent jaundice, Elliptocytosis, Decreased mean corpuscular volume, Chronic hemolytic anemi...	OMIM:617948
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Jaundice, Osteopenia, Hepatomegaly, Calvarial hyperostosis, An...	OMIM:612714
Mcleod Syndrome	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:300842
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Diffuse Neonatal Hemangiomatosis	Ascites, Anemia, Thrombocytopenia, Hepatomegaly	ORPHA:2123
Lysosomal Acid Lipase Deficiency	Leukopenia, Anemia, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Increased hepatic echogenic...	OMIM:278000
Neonatal Lupus Erythematosus	Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati...	ORPHA:398124
Wilson Disease	Anemia, Cirrhosis, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Pathologic frac...	ORPHA:905
Immunodeficiency 13	Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, Recurrent sinusiti...	OMIM:615518
Immunodeficiency 110 With Lymphoproliferation	Neutropenia, Lymphopenia	OMIM:614868
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Elevated circulating alanine aminotransferase concent...	ORPHA:158061
Stormorken-Sjaastad-Langslet Syndrome	Abnormality of thrombocytes, Asplenia, Anemia	ORPHA:3204
Gaucher Disease, Type Iii	Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatomegaly	OMIM:231000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reti...	OMIM:618278
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Megaloblastic bone marrow, Thrombocytopenia, Neutropenia	ORPHA:859
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia	OMIM:301083
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Orotic Aciduria	Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg...	OMIM:258900
Rhabdoid Tumor	Thrombocytopenia, Lymphadenopathy, Anemia, Neoplasm of the liver	ORPHA:69077
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia	OMIM:598500
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis	OMIM:616959
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis	ORPHA:289916
Immunodeficiency 27A	Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Salmonella osteomyelit...	OMIM:209950
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem...	OMIM:619220
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Leukopenia, Chronic bronchitis, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neu...	OMIM:618986
Diamond-Blackfan Anemia 3	Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Absent ci...	OMIM:619707
Immunodeficiency 105	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	OMIM:619924
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a...	OMIM:615550
Bone Marrow Failure Syndrome 6	Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Bone marrow hypocellularity, Increa...	OMIM:618849
Sickle Cell Anemia	Osteomyelitis, Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones...	ORPHA:232
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Increased susceptibility to fractures, Myeloid leukemia, Increased basoph...	ORPHA:98849
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ...	OMIM:603909
Interstitial Granulomatous Dermatitis With Arthritis	Rheumatoid factor positive, Pruritus, Rheumatoid arthritis, Inflammatory abnormality of the skin	ORPHA:79099
Lymphoproliferative Syndrome, X-Linked, 1	Hepatic failure, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytope...	OMIM:308240
Immunodeficiency 21	Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Os...	OMIM:614172
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity	OMIM:617243
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:612126
Immunodeficiency 104	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly	OMIM:608971
Non-Involuting Congenital Hemangioma	Thrombocytopenia, Hepatic hemangioma	ORPHA:141179
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Neonatal death, Camptodactyly, Stillbirth	OMIM:619751
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Autoimmune antibody positivity, Anti-dsDNA anti...	ORPHA:90283
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	B lymphocytopenia, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocytosis, Splenomegaly	OMIM:616084
Tufted Angioma	Anemia, Thrombocytopenia, Megakaryocytopenia	ORPHA:1063
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	T lymphocytopenia, Bronchiectasis, Increased proportion of transitional B cells, Decreased circul...	OMIM:615513
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Abnormal pleura morphology, Lymphopenia, Eosinophilia	ORPHA:2582
Congenital Rubella Syndrome	Anemia, Jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:290
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Chronic sinusitis, Recurrent pneumon...	OMIM:613502
Developmental And Epileptic Encephalopathy 50	Anemia, Schistocytosis, Anisopoikilocytosis, Acanthocytosis	OMIM:616457
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Neutropenia	ORPHA:90023
Immunodeficiency 97 With Autoinflammation	Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ...	OMIM:619802
Hb Bart'S Hydrops Fetalis	Anemia, Pallor, Pericarditis, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Fibrodysplasia Ossificans Progressiva	Anemia, Ectopic ossification in ligament tissue, Synostosis of joints, Limitation of joint mobili...	ORPHA:337
Progressive Familial Intrahepatic Cholestasis	Abnormality of thrombocytes, Jaundice, Cholestasis, Hepatomegaly, Splenomegaly, Reduced bone mine...	ORPHA:172
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol...	OMIM:235700
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Anemia, Macrocytic anemia, Hepatomegaly, Thrombocytopenia, Pancreatitis	ORPHA:27
Thrombotic Thrombocytopenic Purpura, Hereditary	Prolonged neonatal jaundice, Jaundice, Microangiopathic hemolytic anemia, Reticulocytosis, Schist...	OMIM:274150
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia, Recurrent respiratory infections	OMIM:616022
Tularemia	Anemia, Brain abscess, Abnormal nasopharyngeal adenoid morphology, Cutaneous abscess, Lymphadenop...	ORPHA:3392
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto...	OMIM:150550
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Anemia	OMIM:610090
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1	Anemia, Myeloid leukemia, Cirrhosis, Pancytopenia, Osteopenia, Bone marrow hypocellularity, Media...	OMIM:614742
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Hemochromatosis, Type 3	Anemia, Cirrhosis, Arthritis, Elevated hepatic transaminase, Lymphopenia, Neutropenia	OMIM:604250
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Nodular regenerative hyperplasia of liver, Elevated hepatic transaminase, Hepatosplenomegaly, Bon...	ORPHA:210136
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ...	OMIM:601859
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly	ORPHA:158029
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia, Recurrent streptococcus pneumoniae infections	ORPHA:70592
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Rh-Null, Regulator Type	Stomatocytosis, Jaundice, Hemolytic anemia	OMIM:268150
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia, Hepatic hemangioma	ORPHA:141184
Alopecia Areata 1	Autoimmunity	OMIM:104000
Gaucher Disease, Type I	Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Thrombocytopenia, Pathologic fracture, Splenom...	OMIM:230800
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic ane...	OMIM:617780
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Immunodeficiency 76	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly	OMIM:619164
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm...	OMIM:619375
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen...	OMIM:619846
Deafness-Lymphedema-Leukemia Syndrome	Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli...	ORPHA:3226
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, T lymphocytopenia, Abnormally low T cell...	OMIM:618806
Short Stature With Microcephaly And Distinctive Facies	Anisopoikilocytosis, Osteopenia, Anemia	OMIM:615789
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Recurrent ...	OMIM:619281
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Hemolytic anemia, Jaundice, Hepatomegaly, Splenomegaly	OMIM:608885
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Ventricular septal defect, Atrial septal defect, Pallor, Thrombocytopenia	ORPHA:49827
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia	OMIM:618660
Systemic Lupus Erythematosus 17	Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:301080
Indolent Systemic Mastocytosis	Splenomegaly, Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomega...	ORPHA:98848
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas...	OMIM:619463
Osteochondrosis Of The Metatarsal Bone	Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones	ORPHA:564003
Ollier Disease	Osteolysis, Anemia, Lymphangioma, Joint stiffness	ORPHA:296
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Elevated circulating alanine aminotransferase concentration, Arthritis, G...	OMIM:615559
Sclerosteosis	Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology	ORPHA:3152
Pyruvate Kinase Deficiency Of Red Cells	Erythroid hyperplasia, Reticulocytosis, Pallor, Chronic hemolytic anemia, Decreased hemoglobin co...	OMIM:266200
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Jaundice, Pancytopenia, Hepatomegaly, Increased mean corpuscular volume, Th...	OMIM:613839
Potocki-Shaffer Syndrome	Anemia, Decreased skull ossification	ORPHA:52022
Elliptocytosis 2	Elliptocytosis, Hemolytic anemia, Reticulocytosis	OMIM:130600
Tyrosinemia Type 1	Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly, Acute hepatic failure, Spleno...	ORPHA:882
Caffey Disease	Joint hypermobility, Cortical irregularity, Subperiosteal bone formation, Calvarial hyperostosis,...	OMIM:114000
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E...	OMIM:603554
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia	OMIM:612527
Immunodeficiency 102	Bronchiectasis, Recurrent sinusitis, Decreased proportion of CD4-positive helper T cells, Partial...	OMIM:301082
Transaldolase Deficiency	Anemia, Hepatic fibrosis, Cirrhosis, Pancytopenia, Hepatosplenomegaly, Micronodular cirrhosis, He...	OMIM:606003
Familial Pseudohyperkalemia	Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume	ORPHA:90044
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Thrombocytopenia	ORPHA:67048
Congenital Erythropoietic Porphyria	Leukopenia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi...	ORPHA:79277
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal mean corpuscular volume, Dysplastic granulopoesis, Bone marrow h...	ORPHA:86839
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Knee flexion contracture, Sterile abscess, Arthritis, Elbow flexion contracture, Pancytopenia, He...	OMIM:604416
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Mast Cell Sarcoma	Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:66661
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa...	OMIM:616278
Propionic Acidemia	Anemia, Pancreatitis, Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Osteoporosis	OMIM:606054
Majeed Syndrome	Flexion contracture, Osteomyelitis, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean cor...	OMIM:609628
Glutamate-Cysteine Ligase Deficiency	Jaundice, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly	ORPHA:33574
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Hepatitis, Coombs-positive hemolytic anemia, Arthritis, Autoimmune thrombocytopenia, Lymp...	OMIM:304790
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Splenomegaly, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neon...	ORPHA:79301
Hypobetalipoproteinemia, Familial, 1	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:615558
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Brain abscess, Liver abscess...	ORPHA:54251
Thrombotic Thrombocytopenic Purpura	Thrombocytopenia, Microangiopathic hemolytic anemia, Reticulocytosis	ORPHA:54057
Systemic Lupus Erythematosus	Leukopenia, Thrombocytopenia, Hemolytic anemia, Arthritis	OMIM:152700
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, Elevated cir...	OMIM:257200
Chylomicron Retention Disease	Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic transaminase, Acanth...	ORPHA:71
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated hepatic transaminase, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosi...	OMIM:619644
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Cryptogenic Organizing Pneumonia	Pneumothorax, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory de...	ORPHA:1302
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron	ORPHA:446
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni...	OMIM:300853
Linear Iga Dermatosis	Pruritus, Autoimmunity	ORPHA:46488
X-Linked Agammaglobulinemia	Anemia, Osteomyelitis, Hepatitis, Arthritis, Abnormality of the lymphatic system, Recurrent cutan...	ORPHA:47
Lathosterolosis	Bilobate gallbladder, Anisopoikilocytosis, Elevated hepatic transaminase, Hepatosplenomegaly, Int...	OMIM:607330
Letterer-Siwe Disease	Anemia, Jaundice, Hepatosplenomegaly, Thrombocytopenia, Neutropenia	OMIM:246400
Immunodeficiency 64 With Lymphoproliferation	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Hepatosplenomegaly, In...	OMIM:618534
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Anemia, Splenomegaly	ORPHA:1046
Hemochromatosis Type 2	Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro...	ORPHA:79230
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis	OMIM:235400
Glutathione Synthetase Deficiency	Neutropenia, Hemolytic anemia	OMIM:266130
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt...	OMIM:619824
Griscelli Syndrome	Leukopenia, Hepatitis, Jaundice, Abnormality of neutrophils, Lymphadenopathy, Bone marrow hypocel...	ORPHA:381
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Flexion contracture, Arthritis, Elevated hepatic transaminase, Lymphopenia, Lymphadenopat...	OMIM:617591
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate...	ORPHA:274
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Sideroblastic anemia, Pallor	OMIM:613561
Preeclampsia	Thrombocytopenia, Elevated hepatic transaminase, Abnormality of the hepatic vasculature	ORPHA:275555
Idiopathic Aplastic Anemia	Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	ORPHA:88
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hemophagocytosis, Hepatomegaly,...	ORPHA:540
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Splenomegaly, Hepatomegaly	OMIM:619462
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal natural killer cell count, Anemia, T lymphocytopenia, Ascites, Jaundice, Elevated hepati...	ORPHA:79124
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Camptodactyly, Cholestasis, Hepatomegaly, Decreased liver function, Ascites, Thrombocytop...	OMIM:608104
Dysplastic Cortical Hyperostosis	Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly	ORPHA:2204
Familial Expansile Osteolysis	Thin bony cortex, Pathologic fracture, Osteolysis	OMIM:174810
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphadenitis, Abnormal natural killer cell count, Elevated hepatic transaminase, Abnormal B cell...	ORPHA:331206
Cinca Syndrome	Abnormality of thrombocytes, Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils,...	ORPHA:1451
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Refractory anemia, Monocytosis	OMIM:616871
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality of neutrophils	ORPHA:33355
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron	OMIM:231100
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly	OMIM:618892
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Cinca Syndrome	Anemia, Arthritis, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia	OMIM:607115
Hemophagocytic Syndrome Associated With An Infection	Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Elevated hepatic...	ORPHA:158048
Evans Syndrome	Petechiae, Neutropenia in presence of anti-neutropil antibodies, Pallor, Autoimmune thrombocytope...	ORPHA:1959
Amyloidosis, Primary Localized Cutaneous, 2	Pruritus	OMIM:613955
Kaposiform Lymphangiomatosis	Pancreatic cysts, Anemia, Enlarged kidney, Abnormal spleen morphology, Abnormal lymphatic vessel ...	ORPHA:464329
Dyskeratosis Congenita, Autosomal Dominant 1	Leukopenia, Anemia, Cirrhosis, Hepatic necrosis, Lymphopenia, Bone marrow hypocellularity, Increa...	OMIM:127550
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Flexion contracture	OMIM:612952
Relapsing Fever	Leukopenia, Anemia, Jaundice, Neutrophilia, Elevated hepatic transaminase, Leukocytosis, Thromboc...	ORPHA:91547
Whim Syndrome 1	Bronchiectasis, Decreased circulating antibody level, Recurrent upper respiratory tract infection...	OMIM:193670
Hemochromatosis, Type 4	Anemia, Cirrhosis, Hepatic steatosis, Hepatomegaly, Osteoarthritis	OMIM:606069
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Bone cyst	ORPHA:2668
Pseudo-Torch Syndrome 3	Lymphadenitis, Anemia, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia	OMIM:618886
Noonan Syndrome 12	Thrombocytopenia, Lymphopenia	OMIM:618624
Combined Saposin Deficiency

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