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 (1327 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	Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia	ORPHA:231393
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Abnormal megakaryocyte morphology, Hypochromic anemia, Anisocyto...	ORPHA:67044
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Abnormal granulocytopoietic cell morphology, Anisocytosis, Macr...	OMIM:300835
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis	OMIM:300367
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:314050
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis	OMIM:301083
Congenital Erythropoietic Porphyria	Splenomegaly, Anisocytosis, Leukopenia, Osteopenia, Osteoporosis, Hemolytic anemia, Poikilocytosi...	ORPHA:79277
Blackfan-Diamond Anemia	Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi...	ORPHA:124
Down Syndrome	Double outlet right ventricle, Atrial septal defect, Atrioventricular canal defect, Myeloprolifer...	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	Steroid-responsive anemia, Anemia, Erythroid hypoplasia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Iron Overload In Africa	Elevated transferrin saturation	OMIM:601195
Methemoglobin Reductase Deficiency	Abnormal erythrocyte morphology	OMIM:250700
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	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase level	OMIM:615909
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Dermatitis Herpetiformis, Familial	Pruritus	OMIM:601230
Pruritus, Hereditary Localized	Pruritus	OMIM:177100
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb...	OMIM:615285
Bleeding Disorder, Platelet-Type, 15	Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis	OMIM:615193
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Anisopoikilocytosis, Anemia, Thrombocytopenia	OMIM:617441
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Bleeding Disorder, Platelet-Type, 16	Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane...	OMIM:187800
Anemia, Hypochromic Microcytic, With Iron Overload 1	Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:206100
Essential Thrombocythemia	Abnormality of bone marrow cell morphology, Myelofibrosis, Abnormality of thrombocytes, Splenomeg...	ORPHA:3318
Ghosal Hematodiaphyseal Dysplasia	Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Leukopenia, Refrac...	OMIM:231095
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Bleeding Disorder, Platelet-Type, 24	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619271
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox...	OMIM:206000
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
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant...	ORPHA:90283
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Myelofibrosis, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia,...	OMIM:301078
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia	ORPHA:231393
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Lichen Amyloidosis	Pruritus	ORPHA:49804
Hemoglobin H Disease	Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Acute Panmyelosis With Myelofibrosis	Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Lymphocytosis, Myelofibrosis, Ac...	ORPHA:86843
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia	OMIM:615234
Thrombocytopenia 2	Thrombocytopenia, Leukocytosis	OMIM:188000
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic...	OMIM:603902
Gray Platelet Syndrome	Impaired collagen-induced platelet aggregation, Myelofibrosis, Splenomegaly, Abnormal number of a...	OMIM:139090
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
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
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia	OMIM:205950
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ...	OMIM:612840
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis...	OMIM:615631
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid...	OMIM:133180
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Pallor, Splenomegaly	ORPHA:46532
Bleeding Disorder, Platelet-Type, 17	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187900
Immunodeficiency 8	Lymphopenia, Recurrent respiratory infections	OMIM:615401
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Abnormal megakaryocyte morphology, Hypochromic anemia, Anisocyto...	ORPHA:67044
Cyclic Neutropenia	Cyclic neutropenia, Neutropenia	OMIM:162800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti...	ORPHA:766
Primary Myelofibrosis	Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Hepatomegaly, Abnormality of bon...	ORPHA:824
Amegakaryocytic Thrombocytopenia, Congenital	Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Thrombocytopenia 6	Bone marrow hypercellularity, Thrombocytopenia, Osteoporosis, Myelofibrosis	OMIM:616937
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification	ORPHA:3319
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice	OMIM:312500
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia	OMIM:153550
Immunodeficiency 18	Lymphopenia, Decreased proportion of CD3-positive T cells, Recurrent respiratory infections	OMIM:615615
Thrombocytopenia 7	Impaired collagen-induced platelet aggregation, Impaired ristocetin-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 epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi...	OMIM:155100
Castleman Disease	Decreased mean corpuscular volume, Myelofibrosis, Follicular hyperplasia, Mediastinal lymphadenop...	ORPHA:160
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Osteopetrosis, Autosomal Recessive 2	Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Extramedullar...	OMIM:259710
Immunodeficiency 24	Lymphopenia, Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Red...	OMIM:615897
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Splenomegaly, Osteopenia, Anemia, Thrombocytopenia, Hypersplenism	OMIM:610539
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis	OMIM:603529
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Beta-Thalassemia Intermedia	Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,...	ORPHA:231222
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Recurrent respiratory infections, Neutropenia	OMIM:300988
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit	OMIM:609820
Immunodeficiency 40	Lymphopenia	OMIM:616433
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ...	OMIM:231200
Hyperlysinemia, Type I	Anemia	OMIM:238700
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Abnormal megakaryocyte morphology, Hepatomegaly, Hyposegmentatio...	ORPHA:75564
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia	OMIM:615085
Myelofibrosis	Myeloproliferative disorder, Myelofibrosis, Splenomegaly	OMIM:254450
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid...	OMIM:237800
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Abnormal granulocytopoietic cell morphology, Anisocytosis, Macr...	OMIM:300835
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Erythrocytosis, Familial, 6	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617980
Melorheostosis With Osteopoikilosis	Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Nephronophthisis	Anemia	ORPHA:655
Erythrocytosis, Familial, 7	Polycythemia, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 5	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617907
Slc35A1-Cdg	Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia	ORPHA:238459
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia	OMIM:124900
Immunodeficiency 95	Respiratory distress, Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respir...	OMIM:619773
Ghosal Hematodiaphyseal Dysplasia	Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly	ORPHA:1802
Myh9-Related Disease	Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p...	ORPHA:182050
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly...	OMIM:224120
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa...	OMIM:603552
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi...	OMIM:616689
Fechtner syndrome	Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets	OMIM:153640
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h...	ORPHA:444463
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Acute Myelomonocytic Leukemia	Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia	ORPHA:517
Mu-Heavy Chain Disease	Hepatomegaly, Abnormality of bone marrow cell morphology, Splenomegaly, Abnormal B cell count, Os...	ORPHA:100024
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Immunodeficiency 19	Lymphopenia, Recurrent respiratory infections	OMIM:615617
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Leukopenia, Anemia, Thrombocytopenia	OMIM:615715
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Hereditary Spherocytosis	Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ...	ORPHA:822
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Osteomesopyknosis	Abnormal cortical bone morphology, Increased bone mineral density	ORPHA:2777
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal...	OMIM:613673
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Idiopathic Hypereosinophilic Syndrome	Pancreatitis, Neutrophilia, Leukocytosis, Splenomegaly, Cervical lymphadenopathy, Myeloproliferat...	ORPHA:3260
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Osteopetrosis, Autosomal Recessive 4	Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytos...	OMIM:611490
Adenosine Triphosphate, Elevated, Of Erythrocytes	Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration	OMIM:102900
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly	ORPHA:228312
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia	ORPHA:169079
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Recurrent respiratory infections, Neutropenia	OMIM:615214
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly	ORPHA:721
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia	OMIM:616176
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
Erythrocytosis, Familial, 4	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:611783
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Hepatomegaly, Abnormality of the liver	ORPHA:1980
Forsythe-Wakeling Syndrome	Thrombocytopenia, Osteoporosis	OMIM:613606
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Intermittent jaundice, Splenomegaly	OMIM:179700
Anemia, Sideroblastic, 1	Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,...	OMIM:300751
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly...	ORPHA:288
Breath-Holding Spells	Pallor, Iron deficiency anemia	OMIM:607578
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt...	OMIM:300908
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Extramedull...	OMIM:259720
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Thrombocytopenia	OMIM:189800
Polycythemia Vera	Hepatomegaly, Myelofibrosis, Splenomegaly, Portal hypertension, Acute leukemia	ORPHA:729
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas, Arthritis	ORPHA:1195
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia	OMIM:616435
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E...	ORPHA:231214
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Myelofibrosis, Myeloid leukemia	OMIM:616604
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Autoimmune hemolytic...	OMIM:247800
Beta-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Reduced bone mineral density, He...	ORPHA:848
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Neutrophilia, Hereditary	Hepatosplenomegaly, Neutrophilia	OMIM:162830
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Cirr...	ORPHA:231226
Immunodeficiency 69	Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia	OMIM:618963
Cryohydrocytosis	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly	OMIM:185020
Osteopetrosis, Autosomal Recessive 3	Diaphyseal sclerosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Anemia, Cr...	OMIM:259730
Alpha-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J...	ORPHA:846
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti...	ORPHA:3202
Gnathodiaphyseal Dysplasia	Recurrent fractures, Osteopenia, Thickened cortex of long bones, Mandibular osteomyelitis	ORPHA:53697
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis	OMIM:300367
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Megakaryocyte dysplasia, Pancytopenia, Bone marro...	OMIM:619041
Iron-Refractory Iron Deficiency Anemia	Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis	OMIM:206200
Platelet Signal Processing Defect	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb...	OMIM:173590
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia, Ascites	ORPHA:295
Spherocytosis, Type 2	Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:616649
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Autoimmunity	OMIM:216950
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice	OMIM:224100
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy	OMIM:618852
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy	OMIM:613101
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto...	OMIM:159550
Spherocytosis, Type 4	Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:612653
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I...	OMIM:247630
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:231900
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
Spherocytosis, Type 1	Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:182900
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis	OMIM:608898
Gamma-Heavy Chain Disease	Hepatomegaly, Abnormality of bone marrow cell morphology, Splenomegaly, Rheumatoid arthritis, Aut...	ORPHA:100026
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly	OMIM:153670
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia, Lymp...	ORPHA:37748
Babesiosis	Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Thrombocytopenia, Jaun...	ORPHA:108
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice	OMIM:185000
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M...	OMIM:614470
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Hepatic failure, Extramedullary hematopoiesis, Cholestasis, E...	ORPHA:79303
Sitosterolemia 1	Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Arthritis, Impaired platelet aggregatio...	OMIM:210250
Solute carrier family 4 (anion exchanger), member 1	Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re...	OMIM:109270
Congenital Toxoplasmosis	Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, Ascites, Anemia, Lymphadenopathy, ...	ORPHA:858
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Aggressive Systemic Mastocytosis	Decreased liver function, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenom...	ORPHA:98850
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elevated hepatic transaminase, A...	ORPHA:98870
Acute Erythroid Leukemia	Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia	ORPHA:318
Retinitis Pigmentosa 42	Pallor	OMIM:612943
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia	OMIM:229050
Gracile Syndrome	Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron	OMIM:603358
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy, Osteolysis	ORPHA:158014
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Osteoporosis, Elevat...	OMIM:614727
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:314050
Erythrocytosis, Familial, 1	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly	OMIM:133100
Leishmaniasis	Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Elevate...	ORPHA:507
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval...	ORPHA:35858
C1Q Deficiency	Systemic lupus erythematosus, Autoimmunity	OMIM:613652
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections, B lymphocytopenia, T lymphocyt...	OMIM:233650
Elliptocytosis 1	Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly	OMIM:611804
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepatic tran...	ORPHA:300298
Erythrocytosis, Familial, 8	Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C...	OMIM:222800
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Recurrent bronchitis, Recurrent respiratory infections, Neutropenia	OMIM:613501
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:300448
Osteopetrosis, Autosomal Dominant 3	Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Anemia	OMIM:618107
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187950
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus	OMIM:614420
Diamond-Blackfan Anemia 20	Anemia, Erythroid hypoplasia	OMIM:618313
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites	Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia	OMIM:141700
Cyanosis, Transient Neonatal	Methemoglobinemia, Reticulocytosis, Anemia	OMIM:613977
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ...	ORPHA:158057
Storage Pool Platelet Disease	Acute leukemia, Decreased mean platelet volume	OMIM:185050
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Specific Granule Deficiency 2	Bone marrow maturation arrest, Osteopenia, Neutropenia, Anemia, Thrombocytopenia, Absent neutroph...	OMIM:617475
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro...	OMIM:610333
Complement Component C1S Deficiency	Systemic lupus erythematosus, Hashimoto thyroiditis	OMIM:613783
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Isolated Agammaglobulinemia	Abnormality of the lymphatic system, Abnormal lymphocyte morphology, Arthritis, Abnormality of th...	ORPHA:229717
Transaldolase Deficiency	Cirrhosis, Anemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:101028
Retinitis Pigmentosa 81	Pallor	OMIM:617871
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
Wt Limb-Blood Syndrome	Hypoplastic anemia, Radioulnar synostosis, Joint contracture of the 5th finger, Pancytopenia, Thr...	OMIM:194350
Fetal Gaucher Disease	Hepatomegaly, Flexion contracture, Splenomegaly, Abnormality of the spleen, Neonatal death, Arthr...	ORPHA:85212
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis	OMIM:266140
Sickle Cell Anemia	Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiom...	OMIM:603903
Chilblain Lupus	Discoid lupus rash, Antiphospholipid antibody positivity, Systemic lupus erythematosus, Inflammat...	ORPHA:90280
Gaucher Disease, Type Ii	Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly	OMIM:230900
Megaloblastic Anemia, Folate-Responsive	Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblastic anemia, Episodic hemolyti...	OMIM:601775
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Anemia, Thrombocytopenia, Leukopenia	OMIM:618116
Lymphoproliferative Syndrome 1	Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ...	OMIM:613011
Felty Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Thrombocytopenia, Arthritis, Osteolys...	ORPHA:47612
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Extramedullary hematopoiesis, Osteopenia, Hepatosplenomegaly, D...	ORPHA:313855
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Jaundice	OMIM:613839
Endosteal Hyperostosis, Worth Type	Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial...	ORPHA:2790
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Abnormality of bone marrow strom...	ORPHA:86841
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia	ORPHA:79312
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, C...	OMIM:612714
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Gaucher Disease Type 1	Hepatomegaly, Increased bone mineral density, Splenomegaly, Cirrhosis, Leukopenia, Osteopenia, Os...	ORPHA:77259
Omenn Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l...	OMIM:603554
Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ...	OMIM:169400
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple...	OMIM:616860
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Limited pronation/supination of forearm, Congenital thrombocytopenia, Radioulnar synostosis, Neut...	OMIM:616738
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Rh Deficiency Syndrome	Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia...	ORPHA:71275
3-Methylglutaconic Aciduria, Type Viia	Anemia, Anisopoikilocytosis, Neutropenia	OMIM:619835
Asplenia, Isolated Congenital	Thrombocytosis, Asplenia, Howell-Jolly bodies	OMIM:271400
Myeloproliferative Disorder, Chronic, With Eosinophilia	Myeloproliferative disorder, Eosinophilia	OMIM:131440
Elliptocytosis 3	Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ...	OMIM:617948
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
X-Linked Sideroblastic Anemia	Pallor, Anemia, Splenomegaly	ORPHA:75563
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia	OMIM:613313
Autoinflammation With Infantile Enterocolitis	Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count	OMIM:616050
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Hepatoportal Sclerosis	Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ...	ORPHA:64743
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Osteopetrosis, Autosomal Recessive 1	Osteomyelitis, Hepatomegaly, Increased bone mineral density, Splenomegaly, Craniosynostosis, Oste...	OMIM:259700
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy, Ascites	ORPHA:100025
Immunodeficiency 46	Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Wilson Disease	Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Thrombocytopenia, ...	ORPHA:905
Intermediate Osteopetrosis	Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ...	ORPHA:210110
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Immunodeficiency 13	Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf...	OMIM:615518
Amed Syndrome, Digenic	Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acute myeloid leukemia	OMIM:619151
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Sideroblastic anemia, Thrombocytopenia	OMIM:617021
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ...	OMIM:278000
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Mcleod Syndrome	Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Acanth...	OMIM:300842
Retinitis Pigmentosa 60	Pallor	OMIM:613983
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia, Hepatomegaly, Ascites	ORPHA:2123
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythro...	OMIM:600462
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Lymphopenia, Neutropenia	OMIM:614868
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ...	OMIM:618278
Gaucher Disease, Type Iii	Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231000
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia	OMIM:616959
Stormorken-Sjaastad-Langslet Syndrome	Abnormality of thrombocytes, Anemia, Asplenia	ORPHA:3204
Macrophage Activation Syndrome	Decreased liver function, Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Juvenile rhe...	ORPHA:158061
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Transcobalamin Deficiency	Neutropenia, Lymphopenia, Megaloblastic bone marrow, Pancytopenia, Thrombocytopenia	ORPHA:859
Rhabdoid Tumor	Anemia, Lymphadenopathy, Neoplasm of the liver, Thrombocytopenia	ORPHA:69077
Neonatal Lupus Erythematosus	Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolytic anemia, Elev...	ORPHA:398124
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis	OMIM:301083
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia	OMIM:598500
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Thrombocytopenia	OMIM:614946
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope...	OMIM:610629
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a...	OMIM:615550
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Neutropenia, Lymphopenia, Decreased circulating IgG level, Chronic bronchitis, Recurrent respirat...	OMIM:618986
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Non-Involuting Congenital Hemangioma	Thrombocytopenia, Hepatic hemangioma	ORPHA:141179
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th...	OMIM:209950
Immunodeficiency 105	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly...	OMIM:619924
Sickle Cell Anemia	Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o...	ORPHA:232
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Systemic Mastocytosis With Associated Hematologic Neoplasm	Bone marrow hypercellularity, Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenome...	ORPHA:98849
Interstitial Granulomatous Dermatitis With Arthritis	Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive, Pruritus	ORPHA:79099
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent respiratory infections, Neutropenia	OMIM:616022
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Pancreatitis, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia	ORPHA:289916
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Fulmin...	OMIM:308240
Immunodeficiency 104	Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly	OMIM:608971
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly	OMIM:612126
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope...	OMIM:618849
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane...	OMIM:603909
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Thrombocytopenia, Lymphopenia	OMIM:616744
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, ...	OMIM:235700
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Stillbirth, Neonatal death, Camptodactyly	OMIM:619751
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Jaundice	ORPHA:290
Fibrodysplasia Ossificans Progressiva	Synostosis of joints, Ectopic ossification in ligament tissue, Ectopic ossification in muscle tis...	ORPHA:337
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia, Abnormal pleura morphology	ORPHA:2582
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Sideroblastic anemia	OMIM:616084
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Neutropenia	ORPHA:90023
Alopecia Areata 1	Autoimmunity	OMIM:104000
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor...	OMIM:615513
Vitamin B12-Unresponsive Methylmalonic Acidemia	Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia	ORPHA:27
Tufted Angioma	Anemia, Thrombocytopenia, Megakaryocytopenia	ORPHA:1063
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:613502
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia, Hepatic hemangioma	ORPHA:141184
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cholestasis, Abnormality of thrombocyte...	ORPHA:172
Developmental And Epileptic Encephalopathy 50	Anemia, Anisopoikilocytosis, Acanthocytosis, Schistocytosis	OMIM:616457
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Immunodeficiency 76	Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy	OMIM:619164
Hemochromatosis, Type 3	Lymphopenia, Cirrhosis, Arthritis, Elevated hepatic transaminase, Neutropenia, Anemia	OMIM:604250
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane...	OMIM:601859
Thrombotic Thrombocytopenic Purpura, Hereditary	Schistocytosis, Prolonged neonatal jaundice, Microangiopathic hemolytic anemia, Reticulocytosis, ...	OMIM:274150
Van Buchem Disease	Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density	OMIM:239100
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Anemia	OMIM:610090
Immunodeficiency 97 With Autoinflammation	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly...	OMIM:619802
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Abnormality of the hepatic vasculature, Hepatosplenomegaly, Nodular regenerative hyperplasia of l...	ORPHA:210136
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1	Cirrhosis, Osteopenia, Aplastic anemia, Mediastinal lymphadenopathy, Myeloid leukemia, Pancytopen...	OMIM:614742
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Splenomegaly, Pallor, Pericarditis, Anemia	ORPHA:163596
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent streptococcus pneumoniae infections, Neutropenia	ORPHA:70592
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis	OMIM:268150
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea...	OMIM:619375
Chylomicron Retention Disease	Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Acanth...	ORPHA:71
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection...	OMIM:618806
Tularemia	Cutaneous abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenop...	ORPHA:3392
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion...	OMIM:619846
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Acute Peripheral Arterial Occlusion	Pallor, Leukocytosis	ORPHA:90064
Aregenerative Anemia	Abnormal proportion of CD8-positive T cells, Neutropenia, Abnormality of bone marrow cell morphol...	ORPHA:101096
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia	ORPHA:158029
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec...	OMIM:619281
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Hepatomegaly, Abnormality of bone marrow cell morphology, Splenome...	ORPHA:98848
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal...	ORPHA:3226
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep...	OMIM:615559
Short Stature With Microcephaly And Distinctive Facies	Osteopenia, Anemia, Anisopoikilocytosis	OMIM:615789
Potocki-Shaffer Syndrome	Anemia, Decreased skull ossification	ORPHA:52022
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis	ORPHA:564003
Sclerosteosis	Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis	ORPHA:3152
Gaucher Disease, Type I	Hepatomegaly, Splenomegaly, Pathologic fracture, Pancytopenia, Anemia, Thrombocytopenia, Hyperspl...	OMIM:230800
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Atrial septal defect, Pallor, Ventricular septal defect, Thrombocytopenia	ORPHA:49827
Ollier Disease	Joint stiffness, Anemia, Lymphangioma, Osteolysis	ORPHA:296
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia	OMIM:618660
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Optic Atrophy 9	Pallor	OMIM:616289
Tyrosinemia Type 1	Rickets of the lower limbs, Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular car...	ORPHA:882
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ...	OMIM:619463
Pyruvate Kinase Deficiency Of Red Cells	Splenomegaly, Pallor, Decreased hemoglobin concentration, Chronic hemolytic anemia, Reticulocytos...	OMIM:266200
Immunodeficiency 31C	Autoimmune hemolytic anemia, Osteopenia, Lymphopenia	OMIM:614162
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas...	OMIM:616278
Diamond-Blackfan Anemia 4	Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612527
Transaldolase Deficiency	Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp...	OMIM:606003
Endosteal Hyperostosis, Autosomal Dominant	Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ...	OMIM:144750
Immunodeficiency 102	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, B lymphocytop...	OMIM:301082
Caffey Disease	Joint hypermobility, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortica...	OMIM:114000
Majeed Syndrome	Anemia of inadequate production, Decreased mean corpuscular volume, Osteomyelitis, Flexion contra...	OMIM:609628
Reticular Dysgenesis	Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis	OMIM:267500
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tract abnormality, Elevated hepatic ...	ORPHA:79301
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy	ORPHA:66661
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Hepatosplenomegaly, Sterile abscess, Arthritis, Thrombocytosis, Microcytic anemia, Elbow flexion ...	OMIM:604416
Refractory Anemia With Excess Blasts	Anemia of inadequate production, Dysplastic granulopoesis, Abnormality of bone marrow cell morpho...	ORPHA:86839
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Jaundice	ORPHA:33574
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,...	ORPHA:54251
Linear Iga Dermatosis	Autoimmunity, Pruritus	ORPHA:46488
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis	ORPHA:90044
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ar...	OMIM:304790
Hypobetalipoproteinemia, Familial, 1	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:615558
Systemic Lupus Erythematosus 17	Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:301080
Congenital Erythropoietic Porphyria	Splenomegaly, Anisocytosis, Leukopenia, Osteopenia, Osteoporosis, Hemolytic anemia, Poikilocytosi...	ORPHA:79277
Sengers Syndrome	Thrombocytopenia	OMIM:212350
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Thrombocytopenia	ORPHA:67048
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia	ORPHA:54057
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransfera...	OMIM:257200
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Agammaglobulinemia 8B, Autosomal Recessive	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast...	OMIM:619824
Systemic Lupus Erythematosus	Hemolytic anemia, Leukopenia, Thrombocytopenia, Arthritis	OMIM:152700
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Monocyto...	OMIM:619644
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly	OMIM:614480
Stormorken Syndrome	Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies	OMIM:185070
Immunodeficiency 64	Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ...	OMIM:618534
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron	ORPHA:446
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Ascites, Splenomegaly	ORPHA:1046
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C...	OMIM:300853
Propionic Acidemia	Pancreatitis, Hepatomegaly, Osteoporosis, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia	OMIM:606054
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Lathosterolosis	Hepatosplenomegaly, Anisopoikilocytosis, Osteoporosis, Acanthocytosis, Schistocytosis, Increased ...	OMIM:607330
Cryptogenic Organizing Pneumonia	Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc...	ORPHA:1302
X-Linked Agammaglobulinemia	Osteomyelitis, Abnormality of the lymphatic system, Arthritis, Abnormality of the tonsils, Hepati...	ORPHA:47
Idiopathic Aplastic Anemia	Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:88
Hemochromatosis Type 2	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro...	ORPHA:79230
Letterer-Siwe Disease	Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice	OMIM:246400
Thrombocytopenia 1	Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume	OMIM:313900
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Hepatomegaly, Flexion contracture, Splenomegaly, Thrombocytopenia, Arthritis, Elevat...	OMIM:617591
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis	OMIM:235400
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ...	ORPHA:381
Familial Hemophagocytic Lymphohistiocytosis	Decreased liver function, Cholestatic liver disease, Hepatomegaly, Hemophagocytosis, Splenomegaly...	ORPHA:540
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Left ventricular hypertrophy, Camptodactyly, Anemia, Thrombocytopenia	OMIM:611209
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot...	ORPHA:274
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Hepatomegaly, Neonatal death, Cholestasis, Camptodactyly, Anemia, Throm...	OMIM:608104
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Eleva...	ORPHA:79124
Cinca Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Reduced bone mineral density, Abnormal granulocyte morp...	ORPHA:1451
Preeclampsia	Elevated hepatic transaminase, Abnormality of the hepatic vasculature, Thrombocytopenia	ORPHA:275555
Dysplastic Cortical Hyperostosis	Abnormal cortical bone morphology, Hepatomegaly, Increased bone mineral density, Splenomegaly	ORPHA:2204
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron	OMIM:231100
Reticular Dysgenesis	Abnormality of neutrophils, Anemia, Leukopenia, Aplasia/Hypoplasia of the thymus	ORPHA:33355
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Hepatomegaly, Lymphopenia, Lymphadenitis, Eosinophilia, Hepatosplenomegaly...	ORPHA:331206
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia	OMIM:616871
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Cinca Syndrome	Leukocytosis, Eosinophilia, Hepatosplenomegaly, Arthritis, Anemia, Lymphadenopathy	OMIM:607115
Amyloidosis, Primary Localized Cutaneous, 2	Pruritus	OMIM:613955
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Hemophagocytic Syndrome Associated With An Infection	Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, P...	ORPHA:158048
Harderoporphyria	Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis	OMIM:618892
Dyskeratosis Congenita, Autosomal Dominant 1	Lymphopenia, Cirrhosis, Aplastic anemia, Osteoporosis, Bone marrow hypocellularity, Anemia, Throm...	OMIM:127550
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Flexion contracture	OMIM:612952
Immunodeficiency 48

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