Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
LIM domain only 2
Synonyms:
Rhom-2,  Rbtn2,  Rbtn-2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lmo2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Lmo2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia OMIM:124900
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia OMIM:616871
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:173590
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia OMIM:229050
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Malaria
Anemia, Thrombocytopenia ORPHA:673
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... OMIM:609628
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia OMIM:607616
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia OMIM:598500
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Thrombocythemia 2
Thrombocytosis OMIM:601977
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Methylcobalamin Deficiency Type Cble
Pancytopenia, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia ORPHA:2169
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Thrombocythemia 3
Thrombocytosis OMIM:614521
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia OMIM:614171
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Thrombocytopenia... ORPHA:86839
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis OMIM:300367
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Bone Marrow Failure Syndrome 4
Anemia, Thrombocytopenia, Leukopenia OMIM:618116
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:613101
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Thrombocytopenia, Hypersplenism, Splenomegaly OMIM:610539
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Decreased mean corpuscular volume, Hepatosplenomegaly, Reticulocytosis OMIM:611590
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Immunodeficiency 62
Autoimmune thrombocytopenia OMIM:618459
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Wt Limb-Blood Syndrome
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia OMIM:194350
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Amed Syndrome, Digenic
Anemia, Thrombocytopenia, Acute myeloid leukemia, Leukopenia OMIM:619151
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... OMIM:615550
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Leukopenia, Aplastic anemia, Normocytic anemia, I... ORPHA:811
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic erythropoe... ORPHA:300298
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia ORPHA:848
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... OMIM:601399
Systemic Lupus Erythematosus
Hemolytic anemia, Leukopenia, Thrombocytopenia OMIM:152700
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... OMIM:173470
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... ORPHA:35858
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Sengers Syndrome
Thrombocytopenia OMIM:212350
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Isovaleric Acidemia
Leukopenia, Thrombocytopenia, Pancytopenia OMIM:243500
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Retinitis Pigmentosa 42
Pallor OMIM:612943
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Transaldolase Deficiency
Anemia, Thrombocytopenia, Hepatosplenomegaly ORPHA:101028
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Pancytopenia, Anemia, Thrombocytopenia ORPHA:507
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:54057
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Abnormality of neutrophils, Anemia, Thrombocytopenia, Recurrent c... ORPHA:229717
Lymphoproliferative Syndrome 1
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... OMIM:613011
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Thrombocytopenia, Leukopenia, Macrocytic anemia ORPHA:27
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Diamond-Blackfan Anemia 5
Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612528
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Retinitis Pigmentosa 60
Pallor OMIM:613983
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Anemia, Neutropenia, Splenomegaly ORPHA:79312
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... ORPHA:158057
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia OMIM:246400
Babesiosis
Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly ORPHA:108
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, Autoimmune hemo... OMIM:301078
Specific Granule Deficiency 2
Thrombocytopenia, Anemia, Absent neutrophil specific granules, Neutropenia OMIM:617475
Retinitis Pigmentosa 81
Pallor OMIM:617871
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Myh9-Related Disease
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... ORPHA:182050
Gaucher Disease, Type Iii
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Hemochromatosis, Type 3
Anemia, Lymphopenia, Neutropenia OMIM:604250
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia OMIM:222800
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia OMIM:603585
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Optic Atrophy 9
Pallor OMIM:616289
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:610333
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... ORPHA:824
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... OMIM:308240
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Neutropenia OMIM:613502
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612926
Peripheral Cone Dystrophy
Pallor OMIM:609021
Acute Peripheral Arterial Occlusion
Pallor, Leukocytosis ORPHA:90064
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612922
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... OMIM:169400
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Gamma-Heavy Chain Disease
Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmune hemolytic a... ORPHA:100026
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Splenomegaly, Abnormal number of alpha granules, ... OMIM:139090
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia OMIM:619644
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia OMIM:249270
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Rhabdoid Tumor
Anemia, Thrombocytopenia ORPHA:69077
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... OMIM:210250
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Whim Syndrome 1
Neutropenia OMIM:193670
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:259710
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612925
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Neonatal Lupus Erythematosus
Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia ORPHA:398124
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Thrombocytope... ORPHA:3226
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Pallor, Anisocytosis, Anemia, Poikilocytosis, Reti... OMIM:615631
3-Methylglutaconic Aciduria, Type Viia
Anemia, Anisopoikilocytosis, Neutropenia OMIM:619835
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Optic Atrophy 1
Pallor OMIM:165500
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Anemia, Neutropenia OMIM:614900
Preeclampsia
Thrombocytopenia ORPHA:275555
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Hereditary Folate Malabsorption
Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia ORPHA:90045
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia ORPHA:91547
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Lig4 Syndrome
Thrombocytopenia, Pancytopenia OMIM:606593
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Pancytopenia OMIM:613987
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia OMIM:251110
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Congenital Rubella Syndrome
Anemia, Thrombocytopenia, Splenomegaly ORPHA:290
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Thrombocytopenia, Leukopenia OMIM:613845
Tularemia
Leukocytosis, Anemia, Brain abscess, Cutaneous abscess, Thrombocytopenia ORPHA:3392
Retinitis Pigmentosa 70
Pallor OMIM:615922
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly ORPHA:75563
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
Pseudo-Torch Syndrome 3
Anemia, Congenital thrombocytopenia, Leukocytosis OMIM:618886
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytopenia, Decreased proportion of memory B cells OMIM:618048
Blue Rubber Bleb Nevus
Thrombocytopenia, Iron deficiency anemia OMIM:112200
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Transcobalamin Ii Deficiency
Neutropenia, Macrocytic anemia, Reticulocytopenia, Pancytopenia OMIM:275350
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Retinitis Pigmentosa 27
Pallor OMIM:613750
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Congenital Enterovirus Infection
Leukocytosis, Leukopenia, Abnormal macrophage morphology, Neutropenia, Anemia, Thrombocytopenia ORPHA:292
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Congenital thrombocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia OMIM:605432
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia OMIM:251100
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... OMIM:618278
Portal Hypertension, Noncirrhotic, 2
Thrombocytopenia, Splenomegaly OMIM:619463
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia ORPHA:231111
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Chediak-Higashi Syndrome
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric... OMIM:214500
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythro... OMIM:600462
Fetal Gaucher Disease
Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Pancytopenia ORPHA:85212
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A... ORPHA:158048
Propionic Acidemia
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia OMIM:606054
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation, Neutropenia ORPHA:47
Hermansky-Pudlak Syndrome 5
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Absent platelet dense granules OMIM:614074
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Pancytopenia OMIM:277380
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope... OMIM:619705
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Felty Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Neutropenia, Anemia, Thrombocytopenia ORPHA:47612
Gaucher Disease, Type I
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism OMIM:230800
Retinal Venous Beading
Neutropenia OMIM:180080
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis OMIM:274150
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Retinitis Pigmentosa 73
Pallor OMIM:616544
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,... OMIM:612541
Griscelli Syndrome Type 2
Pancytopenia, Splenomegaly, Hemophagocytosis, Neutropenia ORPHA:79477
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... OMIM:260400
Castleman Disease
Decreased mean corpuscular volume, Anemia, Thrombocytopenia ORPHA:160
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Thrombocytopenia OMIM:611209
Griscelli Syndrome
Abnormality of neutrophils, Leukopenia, Thrombocytopenia, Splenomegaly ORPHA:381
Hepatoportal Sclerosis
Splenomegaly, Leukopenia, Anemia, Thrombocytopenia, Hypersplenism ORPHA:64743
Fanconi Anemia, Complementation Group E
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:600901
Diffuse Alveolar Hemorrhage
Anemia, Thrombocytopenia, Leukocytosis ORPHA:90060
Dengue Fever
Leukopenia, Thrombocytopenia ORPHA:99828
Kasabach-Merritt Syndrome
Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anemia, Thrombocytop... ORPHA:2330
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:508542
Wolfram Syndrome 1
Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:222300
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia OMIM:600351
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis OMIM:235400
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia OMIM:251190
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia OMIM:613989
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia ORPHA:3322
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c OMIM:610582
Good Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia ORPHA:169105
Fanconi Anemia, Complementation Group A
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:227650
Lysosomal Acid Lipase Deficiency
Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia, Bone-marrow foam cells, H... OMIM:278000
Rheumatic Fever
Abnormal mitral valve morphology, Pallor, Endocarditis, Abnormal aortic valve morphology, Myocard... ORPHA:3099
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Splenomegaly ORPHA:169090
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope... ORPHA:572
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:540
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Transaldolase Deficiency
Splenomegaly, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:606003
Anemia, Sideroblastic, 1
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... OMIM:300751
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Thrombocytopenia, Aplastic anemia, Lymphopenia OMIM:127550
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia ORPHA:263501
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Thrombocytopenia, Lymphopenia, Splenomegaly OMIM:617591
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Thrombocytopenia OMIM:608104
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Pallor, Autoimmune thrombocytope... ORPHA:1959
Prolidase Deficiency
Anemia, Thrombocytopenia, Splenomegaly OMIM:170100
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Thrombocytopenia, Aplastic anemia, Pancytopenia OMIM:613990
Wilson Disease
Anemia, Thrombocytopenia, Splenomegaly ORPHA:905
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... ORPHA:79124
Osteopetrosis, Autosomal Recessive 1
Anemia, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:259700
Necrotizing Enterocolitis
Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Pallor, Decreased hemoglobin concentration, Chronic hemolytic anemia, Reticulocytos... OMIM:266200
Hereditary Spherocytosis
Spherocytosis, Splenomegaly, Restrictive cardiomyopathy, Pallor, Spontaneous hemolytic crises, Ex... ORPHA:822
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia OMIM:267700
Gaucher Disease Type 1
Splenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism ORPHA:77259
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Decreased proportion of class-switc... OMIM:614700
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Impaired AD... OMIM:608233
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Abcd Syndrome
Polycythemia OMIM:600501
Schimke Immunoosseous Dysplasia
Lymphopenia, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Abnormal T cell morphology OMIM:242900
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia OMIM:618775
Ebola Hemorrhagic Fever
Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:319218
Fanconi Anemia, Complementation Group I
Atrial septal defect, Pallor, Ventricular septal defect, Patent foramen ovale, Neutropenia, Intra... OMIM:609053
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocyto... OMIM:603553
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Fanconi Anemia, Complementation Group C
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:227645
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Ivic Syndrome
Thrombocytopenia, Leukocytosis ORPHA:2307
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Refractory sideroblastic anemia, Pancytope... OMIM:557000
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia OMIM:619752
Autoimmune Hemolytic Anemia
Pallor, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Mirage Syndrome
Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia OMIM:617053
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Alg8-Cdg
Anemia, Thrombocytopenia ORPHA:79325
Wiskott-Aldrich Syndrome, Autosomal Dominant
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... OMIM:600903
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:308230
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Idiopathic Pulmonary Hemosiderosis
Pallor, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia ORPHA:99931
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:617303
Barth Syndrome
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia OMIM:302060
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:93552
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Mevalonic Aciduria
Leukocytosis, Fluctuating splenomegaly, Normocytic hypoplastic anemia, Hepatosplenomegaly, Anemia... OMIM:610377
Cold Agglutinin Disease
Pallor, Hemolytic anemia, Splenomegaly ORPHA:56425
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Retinitis Pigmentosa 51
Pallor OMIM:613464
Eisenmenger Syndrome
Increased mean corpuscular volume, Brain abscess, Hypochromic microcytic anemia, Iron deficiency ... ORPHA:97214
American Trypanosomiasis
Pallor, Cardiomyopathy, Myocarditis, Splenomegaly ORPHA:3386
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Congenital Disorder Of Glycosylation, Type Iil
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:614576
Fanconi Anemia, Complementation Group F
Anemia, Thrombocytopenia, Leukopenia OMIM:603467
Overlap Myositis
Leukopenia, Thrombocytopenia ORPHA:206572
Catastrophic Antiphospholipid Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Coombs-positive hemolytic anemia ORPHA:464343
Dravet Syndrome
Pallor ORPHA:33069
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:90051
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Splenomegaly OMIM:251880
Osteopetrosis, Autosomal Recessive 5
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Hypochromic microcy... OMIM:259720
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, B lymphocytopenia, Neutropenia OMIM:301081
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Avian Influenza
Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:454836
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Pediatric-Onset Graves Disease
Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly ORPHA:525731
Hellp Syndrome
Hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased mean corpuscular... ORPHA:244242
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Pallor, Anisocytosis, Heinz bodies, Poikilocytosis, Fava bean-induced... OMIM:300908
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia OMIM:246450
Myelofibrosis
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly OMIM:254450
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal... ORPHA:167
Elliptocytosis 1
Pallor, Elliptocytosis, Hemolytic anemia, Splenomegaly OMIM:611804
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Aplastic anemia OMIM:224230
Pseudo-Torch Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:251290
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platelet function... ORPHA:906
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia ORPHA:90036
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Neutropenia OMIM:608809
Immunodeficiency 55
Neutropenia, Lymphopenia, Absent natural killer cells OMIM:617827
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:277400
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:90038
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... ORPHA:274
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90033
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Aplastic anemia OMIM:300514
Cartilage-Hair Hypoplasia
Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation... OMIM:250250
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia OMIM:208085