Gene Summary

F-box protein 36
1110020F21Rik,  2410002G19Rik,  0610008D19Rik,  D1Ertd757e

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
thick ventricular wall Fbxo36tm1b(KOMP)Wtsi HOM Early adult 4.85×10-07
thrombocytopenia Fbxo36tm1b(KOMP)Wtsi HOM Early adult 4.89×10-08
decreased monocyte cell number Fbxo36tm1b(KOMP)Wtsi HOM   Early adult 3.63×10-07
increased basophil cell number Fbxo36tm1b(KOMP)Wtsi HOM Early adult 2.88×10-06
abnormal heart left ventricle morphology Fbxo36tm1b(KOMP)Wtsi HOM Early adult 3.19×10-06
decreased grip strength Fbxo36tm1b(KOMP)Wtsi HOM Early adult 1.39×10-05
increased red blood cell distribution width Fbxo36tm1b(KOMP)Wtsi HOM Early adult 2.14×10-05
increased neutrophil cell number Fbxo36tm1b(KOMP)Wtsi HOM Early adult 1.36×10-05
decreased mean platelet volume Fbxo36tm1b(KOMP)Wtsi HOM Early adult 3.11×10-11
decreased mean corpuscular volume Fbxo36tm1b(KOMP)Wtsi HOM Early adult 4.54×10-29
increased mean corpuscular hemoglobin concentration Fbxo36tm1b(KOMP)Wtsi HOM Early adult 7.81×10-14
decreased hematocrit Fbxo36tm1b(KOMP)Wtsi HOM Early adult 1.37×10-09

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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 Fbxo36 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 Fbxo36 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Eosinophilia, Familial
Leukocytosis, Anemia, Myocardial eosinophilic infiltration, Eosinophilia, Thrombocytopenia OMIM:131400
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Abnormal cardiac septum morphology, Thrombocytopenia, Anemia ORPHA:3319
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo... ORPHA:67044
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Anemia, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Abnormal hemoglobin, Anemia, Thrombocytopenia, Splenomegaly ORPHA:231393
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, Abnormality of neut... ORPHA:86841
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Eosinophilia, Thrombocytopenia, Monocytopenia, Neutrophilia, Sp... OMIM:226990
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Bleeding Disorder, Platelet-Type, 24
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... OMIM:619271
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Reticulocytosis, Anemia, Anemia of inadequate production, Erythroid hyperplasia, Po... OMIM:615631
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Impaired plate... OMIM:300835
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impair... OMIM:155100
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Adult Idiopathic Neutropenia
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly OMIM:613978
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... OMIM:619130
Thrombocytopenia 1
Congenital thrombocytopenia, Intermittent thrombocytopenia, Decreased mean platelet volume OMIM:313900
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... OMIM:603902
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia, Anemia ORPHA:295
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myeloid leukemia OMIM:133180
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... ORPHA:98826
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... ORPHA:3203
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Leukopenia, Anemia OMIM:615715
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Giant platelets, Thrombocytopenia, Abnormal platelet granules, Neutropenia ORPHA:238459
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:615285
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... OMIM:614470
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Orotic Aciduria
Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi... OMIM:258900
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... OMIM:613673
Myh9-Related Disease
Giant platelets, Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platele... ORPHA:182050
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Increased mean platelet volume, Impaired ADP-ind... OMIM:617443
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Refractory anemia, Leukopenia, Acute myeloid leukemia OMIM:616871
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Leukopenia, Lymphopenia, Impaired neutrophil chemotaxis, T lymphocytopenia, B... OMIM:618986
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Erythro... OMIM:616860
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... ORPHA:75564
Ataxia-Pancytopenia Syndrome
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... OMIM:159550
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic erythroid hype... OMIM:261000
Immunodeficiency 110 With Lymphoproliferation
Atrial septal defect, Lymphopenia, Neutropenia OMIM:614868
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Ventricular septal defect, Abnormality of neutrophils, Gia... OMIM:169400
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Absent microvilli on the surface of p... OMIM:301000
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Anemia of inadequate production, Ery... OMIM:224120
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Sea-Blue Histiocyte Disease
Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia ORPHA:169079
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Heinz bodies, Leukocytosis, Reticulocytosis, Po... OMIM:300908
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... OMIM:616689
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Diamond-Blackfan Anemia 4
Atrial septal defect, Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia, Neutropenia OMIM:612527
Immunodeficiency 46
Neutropenia, Intermittent thrombocytopenia, Anemia OMIM:616740
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Bone Marrow Failure Syndrome 6
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia OMIM:618849
Niemann-Pick Disease, Type B
Anemia, Bone-marrow foam cells, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:607616
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias OMIM:620044
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Thrombocytopenia, Anemia ORPHA:673
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced platelet aggregation... OMIM:173590
Neutropenia, Splenomegaly, Anemia OMIM:602079
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Hemolytic anemia, Stomatocytosis, Thrombocytope... OMIM:153670
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:598500
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes ORPHA:721
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Persistence of hemoglobin F... OMIM:612561
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis OMIM:619281
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Transcobalamin Deficiency
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia ORPHA:859
Specific Granule Deficiency 1
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... OMIM:245480
Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Splenomegaly ORPHA:846
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... OMIM:300946
Transaldolase Deficiency
Hepatosplenomegaly, Atrial septal defect, Anemia, Biventricular hypertrophy, Thrombocytopenia ORPHA:101028
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia OMIM:616435
Erythrocytosis, Familial, 3
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:609820
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Aicardi-Goutieres Syndrome 6
Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly OMIM:613101
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Ventricular septal defect, Atrial septal defect, Cardiomyopathy, Siderobl... OMIM:249270
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Thrombocytopenia, Megaloblastic anemia, Ventricular septal defect ORPHA:49827
Rh Deficiency Syndrome
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Hypochromia, Macrocytic anem... ORPHA:71275
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Thrombocytopenia, Splenomegaly, Anemia OMIM:610539
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Elliptocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Sitosterolemia 1
Episodic hemolytic anemia, Reticulocytosis, Anemia, Giant platelets, Stomatocytosis, Thrombocytop... OMIM:210250
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Systemic Lupus Erythematosus
Thrombocytopenia, Pericarditis, Leukopenia, Hemolytic anemia OMIM:152700
Abnormal hemoglobin, Anemia, Microcytic anemia, Thrombocytopenia, Hypertrophic cardiomyopathy, Sp... ORPHA:848
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Thrombocytopenia ORPHA:67048
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Leukopenia, Anemia OMIM:618116
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Extramedullary hematopoiesis, Anemia, Ventricular septal defect, Increased mean corpuscular volum... OMIM:617021
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Noonan Syndrome 12
Thrombocytopenia, Tetralogy of Fallot, Lymphopenia, Ventricular septal defect OMIM:618624
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Wt Limb-Blood Syndrome
Leukemia, Thrombocytopenia, Pancytopenia, Hypoplastic anemia OMIM:194350
Atelis Syndrome 1
Leukopenia, Ventricular septal defect, Atrial septal defect, Anemia, Thrombocytopenia OMIM:620184
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Pericarditis, Splenomegaly, Anemia ORPHA:163596
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, P... OMIM:613011
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Cardiomyopathy, Macrocytic anemia, Thrombocytopenia ORPHA:27
Congenital Toxoplasmosis
Cardiomegaly, Thrombocytopenia, Anemia ORPHA:858
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Refractory anemia, Leukopenia OMIM:231095
Erythrocytosis, Familial, 1
Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:133100
Amed Syndrome, Digenic
Thrombocytopenia, Leukopenia, Anemia, Acute myeloid leukemia OMIM:619151
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia OMIM:615085
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia ORPHA:88
Systemic Lupus Erythematosus 17
Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Leukopenia OMIM:301080
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... ORPHA:3202
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Secundum atrial septal defect, Anemia OMIM:223350
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia OMIM:613839
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Spherocytosis, Type 5
Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, Spherocytos... OMIM:612690
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abscess, B lymphocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, ... OMIM:150550
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... OMIM:618278
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Dominant Beta-Thalassemia
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... ORPHA:231226
Imerslund-Gräsbeck Syndrome
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... ORPHA:35858
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Anemia, Abnormality of neutrophils, Abnormal lymphocyte mo... ORPHA:229717
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Abnormal macrophage morphology, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Splenomegaly ORPHA:507
Specific Granule Deficiency 2
Neutropenia, Thrombocytopenia, Absent neutrophil specific granules, Anemia OMIM:617475
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Neonatal Lupus Erythematosus
Aplastic anemia, Hemolytic anemia, Anemia, Abnormal heart morphology, Thrombocytopenia, Pancytope... ORPHA:398124
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... ORPHA:158057
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Osteopetrosis, Autosomal Recessive 4
Thrombocytopenia, Reticulocytosis, Splenomegaly, Anemia OMIM:611490
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Thromboc... OMIM:601399
Congenital Rubella Syndrome
Ventricular septal defect, Atrial septal defect, Anemia, Thrombocytopenia, Splenomegaly ORPHA:290
Thrombocytopenia, Leukopenia, Hemolytic anemia, Splenomegaly ORPHA:108
Pseudo-Torch Syndrome 3
Congenital thrombocytopenia, Cardiomegaly, Leukocytosis, Anemia OMIM:618886
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis, Splenomegaly OMIM:185000
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Hemochromatosis, Type 3
Cardiomyopathy, Neutropenia, Lymphopenia, Anemia OMIM:604250
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia OMIM:603585
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Isovaleric Acidemia
Thrombocytopenia, Pancytopenia, Leukopenia OMIM:243500
Letterer-Siwe Disease
Hepatosplenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:246400
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Macrocytic anemia,... OMIM:612562
Sea-Blue Histiocytosis
Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis ORPHA:158029
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:616050
Bleeding Disorder, Platelet-Type, 17
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Absence of alpha granul... OMIM:187900
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thrombocytopenia, Erythroid hypop... ORPHA:101096
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, Agranulocytos... OMIM:301078
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Autoimmune thrombocytopenia, Neutropenia, Eosinophilia, Thrombocytopenia, Coombs-positive... OMIM:304790
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Eosinophilia, ... ORPHA:486
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Hemophagocytosis, Thrombocytopenia, Neutrophilia, Monocytosis OMIM:619644
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:603909
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... OMIM:608203
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Pericarditis, Pericardial effusion, Anemia ORPHA:231111
Congenital Enterovirus Infection
Myocarditis, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Anemia, Cardiomyopathy, Th... ORPHA:292
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Thrombocytopenia, Pancytopenia, Lymphocytosis, Splenomegaly, N... OMIM:308240
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Pancyto... ORPHA:824
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:610333
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Myocardial fibrosis, Thrombocytopenia ORPHA:210136
Gaucher Disease, Type Iii
Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:231000
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce... ORPHA:274
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Thrombocytopenia, Neutropenia, Normochromic anemia OMIM:614857
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology,... ORPHA:100026
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Anemia of inadequate production, Thrombocytopenia... ORPHA:86839
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Thrombocytopen... ORPHA:98850
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Autoimmune hemolytic anemia OMIM:616576
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... OMIM:187950
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Rhabdoid Tumor
Thrombocytopenia, Anemia ORPHA:69077
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Acute leukemia, Abnormal neutrophil ... ORPHA:3226
Gaucher Disease, Type I
Anemia, Hypersplenism, Thrombocytopenia, Pancytopenia, Aortic valve stenosis, Splenomegaly OMIM:230800
Hereditary Folate Malabsorption
Thrombocytopenia, Pancytopenia, Megaloblastic anemia, Eosinophilia ORPHA:90045
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Neutrophilia ORPHA:91547
Erythrocytosis, Familial, 2
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:263400
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Eosinophilia, Thrombocytopenia, B lym... OMIM:603554
Propionic Acidemia
Anemia, Cardiomyopathy, Thrombocytopenia, Pancytopenia, Neutropenia OMIM:606054
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Neutropenia, Anemia OMIM:614520
Takenouchi-Kosaki Syndrome
Abnormal cardiac septum morphology, Thrombocytopenia, Increased mean platelet volume, Pulmonic st... OMIM:616737
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess, Brain abscess ORPHA:3392
Immunodeficiency 10
Thrombocytopenia, Autoimmune hemolytic anemia OMIM:612783
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia OMIM:601709
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Syndromic Diarrhea
Hypoplasia of the thymus, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, L... ORPHA:84064
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Left ventricular hypertrophy, Thrombocytopenia, Anemia OMIM:611209
Sengers Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy OMIM:212350
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatosplenomegaly, Hypoplasia of the thymus, Secundum atrial septal defect, Intermittent thrombo... OMIM:612541
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia ORPHA:2169
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced plate... OMIM:139090
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Thrombocytopenia, Normochromic anemia, Pericardial effusion, Hypertrop... OMIM:618775
Felty Syndrome
Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Pericarditis, Splenomegaly, Neutropenia ORPHA:47612
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Neu... ORPHA:158061
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Pa... OMIM:606003
Intermediate Osteopetrosis
Hepatosplenomegaly, Thrombocytopenia, Anemia ORPHA:210110
Thrombocytopenia ORPHA:275555
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Thrombocytopenia, Leukopenia, Neutropenia OMIM:251000
Thrombocytopenia ORPHA:370924
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Wolfram Syndrome 1
Sideroblastic anemia, Cardiomyopathy, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Fanconi Anemia, Complementation Group E
Anemia, Leukemia, Reticulocytopenia, Abnormal heart morphology, Thrombocytopenia, Pancytopenia, N... OMIM:600901
Diamond-Blackfan Anemia
Leukopenia, Pure red cell aplasia, Ventricular septal defect, Atrial septal defect, Persistence o... ORPHA:124
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Immunodeficiency 22
Anemia, Abscess, Thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Pericarditis OMIM:615758
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... ORPHA:331206
Shwachman-Diamond Syndrome 1
Anemia, Persistence of hemoglobin F, Neutropenia, Thrombocytopenia, Pancytopenia, Myocardial necr... OMIM:260400
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Neutropenia, Pancytopenia, Anemia OMIM:251110
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Aplastic anemia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytop... OMIM:127550
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Persistence of hemoglobin F, Ventricular septal defect OMIM:619769
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Dextrocardia, Megaloblastic anemia, Anemia, Atrial septal defect, Thrombocytopenia, Pancytopenia,... OMIM:277380
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Neutropenia ORPHA:520
Fanconi Anemia, Complementation Group A
Anemia, Leukemia, Reticulocytopenia, Abnormal heart morphology, Thrombocytopenia, Pancytopenia, N... OMIM:227650
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Aplastic anemia, Thrombocytopenia, Pancytopenia, Dilated cardiomyopathy, Neutropenia OMIM:613989
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Thrombocytopenia, Pancytopenia, Leukopenia, Anemia OMIM:613845
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblasti... OMIM:601775
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Leukopenia, Anemia, Leukemia, Chronic neutropenia, Neutropeni... ORPHA:811
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope... OMIM:619705
Gaucher Disease Type 1
Leukopenia, Anemia, Hypersplenism, Thrombocytopenia, Pancytopenia, Abnormal myocardium morphology... ORPHA:77259
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Perimembranous ventricular septal defect, Anemia OMIM:608104
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Liver abscess, Anemia ORPHA:54251
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopeni... ORPHA:508542
Braddock-Carey Syndrome 1
Aortic valve prolapse, Thrombocytopenia, Ventricular septal defect OMIM:619980
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Thrombocytopenia, Neutropenia, Anemia ORPHA:47
Necrotizing Enterocolitis
Thrombocytopenia, Leukocytosis, Abnormal heart morphology, Neutropenia ORPHA:391673
Osteopetrosis, Autosomal Recessive 2
Hepatosplenomegaly, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Pancytopenia OMIM:259710
Cyclic Neutropenia
Decreased eosinophil count, Lymphopenia, Thrombocytopenia, Perianal abscess, Cyclic neutropenia, ... ORPHA:2686
Chediak-Higashi Syndrome
Giant neutrophil granules, Leukopenia, Hemophagocytosis, Anemia, Impaired neutrophil bactericidal... OMIM:214500
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia OMIM:617056
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytopenia OMIM:618048
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Trichohepatoenteric Syndrome 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Increased mean platelet volume... OMIM:222470
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Anemia, Abnormal natural killer cell count, Thrombocytopenia, Pancytopenia, Spl... ORPHA:158048
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia ORPHA:90060
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:611126
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Pancytopenia OMIM:613987
Diamond-Blackfan Anemia 1
Ventricular septal defect, Atrial septal defect, Persistence of hemoglobin F, Reticulocytopenia, ... OMIM:105650
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Increased mean corpuscular vol... OMIM:617052
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia, Dilated cardiomyopathy, Ventricular septal d... ORPHA:261250
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Congenital Erythropoietic Porphyria
Anisocytosis, Reticulocytosis, Leukopenia, Hemolytic anemia, Thrombocytopenia, Erythroid hyperpla... ORPHA:79277
Stormorken Syndrome
Hypoplastic spleen, Asplenia, Anemia, Thrombocytopenia, Howell-Jolly bodies OMIM:185070
Fetal Gaucher Disease
Thrombocytopenia, Pancytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Neutropenia, Anemia OMIM:619835
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Leukopenia, Splenomegaly ORPHA:381
Portal Hypertension, Noncirrhotic, 2
Thrombocytopenia, Splenomegaly OMIM:619463
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased mean platelet volume, Schistoc... OMIM:607330
Thrombotic Thrombocytopenic Purpura, Hereditary
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia, Schistocytosis OMIM:274150
Kasabach-Merritt Syndrome
Reticulocytosis, Microangiopathic hemolytic anemia, Leukopenia, Anemia, Thrombocytopenia, Neutrop... ORPHA:2330
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:3322
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia OMIM:605432
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Hermansky-Pudlak Syndrome 5
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Absent platelet dense granules OMIM:614074
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Catastrophic Antiphospholipid Syndrome
Myocarditis, Microangiopathic hemolytic anemia, Abnormal heart valve morphology, Thrombocytopenia... ORPHA:464343
Hepatoportal Sclerosis
Leukopenia, Anemia, Hypersplenism, Thrombocytopenia, Splenomegaly ORPHA:64743
Fanconi Anemia, Complementation Group C
Anemia, Ventricular septal defect, Leukemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, N... OMIM:227645
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Anemia of inadequate production, Neutropenia OMIM:614900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia, Schistocytosis OMIM:235400
Hepatosplenomegaly, Thrombocytopenia ORPHA:263501
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Thrombocytopenia OMIM:617710
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Neutropenia, Pancytopenia, Anemia OMIM:251100
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... ORPHA:231222
Boutonneuse Fever
Thrombocytopenia, Leukopenia ORPHA:83313
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:540
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Total anomalous pulmonary venous return, Thrombocytopenia, Increased mean platelet volume, Abnorm... ORPHA:487796
Dengue Fever
Thrombocytopenia, Leukopenia ORPHA:99828
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Leukopenia, Bone-marrow foam cells, Anemia, Hypersplenism, Thrombocytopenia, ... OMIM:278000
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Overlap Myositis
Thrombocytopenia, Leukopenia, Abnormal heart morphology ORPHA:206572
Immunodeficiency 40
Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia OMIM:616433
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly OMIM:267700
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:169105
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Gaucher Disease Type 3
Anemia, Abnormal heart valve morphology, Mitral valve calcification, Thrombocytopenia, Abnormal m... ORPHA:77261
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Thrombocytopenia,... OMIM:208085
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Atrial septal defect, Thrombocytopenia, Hypertrophic cardiomyopathy, Splenome... OMIM:617303
Prolidase Deficiency
Thrombocytopenia, Splenomegaly, Anemia OMIM:170100
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:614576
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Decreased proportion of memory B cells, Abnormal lymphocyte count, Anemia, Ab... ORPHA:79124
Combined Immunodeficiency Due To Crac Channel Dysfunction
Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Wilson Disease
Thrombocytopenia, Splenomegaly, Anemia ORPHA:905
Osteopetrosis, Autosomal Recessive 1
Thrombocytopenia, Pancytopenia, Anemia, Splenomegaly OMIM:259700
Proteasome-Associated Autoinflammatory Syndrome 3
Thrombocytopenia, Lymphopenia, Anemia, Splenomegaly OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Leukopenia, Hemophagocytosis, Anemia, Thrombocytopenia, Pancytopenia, Splenom... OMIM:603553
Tangier Disease
Hepatosplenomegaly, Left ventricular hypertrophy, Anemia, Coronary artery stenosis, Thrombocytopenia ORPHA:31150
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Noonan Syndrome 4
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Thrombocytopenia, Hypertrophi... OMIM:610733
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Leukopenia, Lymphopenia, Thrombocytopenia, Pericardial effusion ORPHA:93552
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Reduced natural killer cell count, Impaired ADP-indu... OMIM:608233
Schimke Immunoosseous Dysplasia
Anemia, Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia, Abnormal T cell morphology OMIM:242900
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Chronic neutropenia, Autoimmune thrombocyt... OMIM:614700
Fanconi Anemia, Complementation Group F
Atrial septal defect, Thrombocytopenia, Leukopenia, Anemia OMIM:603467
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Thrombocytopenia OMIM:617397
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Thrombocytopenia, Erythroid hypoplasia, Anemia OMIM:620072
Transcobalamin Ii Deficiency
Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia, Pancytopenia, Neutropenia OMIM:275350
Thrombocytopenia, Anemia ORPHA:79325
Mevalonic Aciduria
Hepatosplenomegaly, Leukocytosis, Anemia, Normocytic hypoplastic anemia, Thrombocytopenia, Fluctu... OMIM:610377
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Restrictive cardiomyopathy, Anemia ORPHA:160
Ivic Syndrome
Thrombocytopenia, Leukocytosis ORPHA:2307
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia OMIM:308230
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Aplastic anemia, Ventricular septal defect OMIM:300514
Pseudo-Torch Syndrome 1
Thrombocytopenia, Splenomegaly, Patent foramen ovale OMIM:251290
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Beta-Thalassemia Major
Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular... ORPHA:231214
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:99901
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Pulmonic stenosis, Ventricular septal defect, Double outlet right ventricle, Thromboc... OMIM:301056
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Neutrophilia, Pericarditis, Splenomegaly ORPHA:829
Ebola Hemorrhagic Fever
Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:319218
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:617053
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Reticulocytopenia, Hypoplastic anemia, Sideroblastic ane... OMIM:557000
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Anemia, Lymphopenia, Thrombocytopenia, Abnormal propor... ORPHA:1830
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Thrombocytopenia, Leukopenia, Tetralogy of Fallot ORPHA:974
Lig4 Syndrome
Acute lymphoblastic leukemia, Thrombocytopenia, Pancytopenia OMIM:606593
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Hepatosplenomegaly, Hemophagocytosis, Anemia, Abnormal platelet function,... ORPHA:167
Dyskeratosis Congenita, Autosomal Dominant 3
Thrombocytopenia, Pancytopenia, Leukopenia, Aplastic anemia OMIM:613990
Sepsis In Premature Infants
Leukocytosis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:90051
Q Fever
Hepatosplenomegaly, Myocarditis, Endocarditis, Anemia, Granuloma, Abnormal heart valve morphology... ORPHA:781
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Thrombocytopenia-Absent Radius Syndrome
Abnormal cardiac septum morphology, Thrombocytopenia, Tetralogy of Fallot ORPHA:3320
Toxic Epidermal Necrolysis
Abnormal myocardium morphology, Thrombocytopenia, Neutropenia, Anemia ORPHA:537
Stevens-Johnson Syndrome
Abnormality of neutrophils, Thrombocytopenia, Abnormal myocardium morphology, Anemia ORPHA:36426
Hellp Syndrome
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Microangiopathic hemolytic... ORPHA:244242
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia, Pericardial effusion, S... ORPHA:464329
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly ORPHA:525731
Fanconi Anemia, Complementation Group D2
Anemia, Leukemia, Reticulocytopenia, Abnormal heart morphology, Thrombocytopenia, Pancytopenia, N... OMIM:227646
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Leukopenia, Neutropenia OMIM:616271
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Pancyto... OMIM:259720
Ivic Syndrome
Thrombocytopenia, Leukocytosis, Tetralogy of Fallot OMIM:147750
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Hemolytic anemia, Anemia, Abnormal platelet function, Lymphopenia, Micr... ORPHA:906
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Anemia, Thrombocytopenia, Cardiomegaly, Splenomegaly OMIM:608013
Sweet Syndrome
Leukocytosis, Anemia, Chronic lymphatic leukemia, Dilated cardiomyopathy, Sterile abscess, Neutro... ORPHA:3243
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Aicardi-Goutieres Syndrome 1
Cardiomyopathy, Thrombocytopenia, Splenomegaly OMIM:225750
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Thrombocytopenia, Pulmonic stenosis, Anemia OMIM:620185
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytop... ORPHA:391487
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Avian Influenza
Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:454836
Gaucher Disease, Type Ii
Thrombocytopenia, Splenomegaly, Anemia OMIM:230900
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Pancytopenia, Aplastic anemia OMIM:224230
Myocarditis, Leukocytosis, Microangiopathic hemolytic anemia, Abscess, Thrombocytopenia, Splenic ... ORPHA:810
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis ORPHA:90038
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Thrombocytopenia, Cardiom... ORPHA:79330
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Normochromic anemia OMIM:254900
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Bacterial Toxic-Shock Syndrome
Myocarditis, Increased circulating myelocyte count, Abscess, Thrombocytopenia, Increased circulat... ORPHA:36234
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect, Thrombocytopenia, Anemia ORPHA:261323
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Leukopenia, Atrial septal defect, Anemia, Abnormal heart morphology, Thromboc... ORPHA:505248
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia, Atrial septal defect ORPHA:457351
Immunodeficiency 87 And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, Atrial septal defect, Atrioventricular canal defect, A... OMIM:619573
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Myeloproliferative disorder, Leukocytosis, Anemia, Myocardial eosinophilic in... ORPHA:3260
Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis ORPHA:46059
Lysinuric Protein Intolerance
Leukopenia, Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly OMIM:222700
Combined Oxidative Phosphorylation Deficiency 55
Thrombocytopenia, Anemia OMIM:619743
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Lujo Hemorrhagic Fever