Not currently registered for phenotyping at IMPC

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

Gene Summary

GATA binding protein 1
Gata-1,  Gf-1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

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

Disease Similarity of
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
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
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
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
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
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
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
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
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
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
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
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
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
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
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
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
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
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
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
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
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
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