Gene: Fbxo36 MGI:1289192

Gene Summary

Name:

F-box protein 36

Synonyms:

1110020F21Rik, 2410002G19Rik, 0610008D19Rik, D1Ertd757e

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
thick ventricular wall	Fbxo36^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.85×10^-07
thrombocytopenia	Fbxo36^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.89×10^-08
decreased monocyte cell number	Fbxo36^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.63×10^-07
increased basophil cell number	Fbxo36^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.88×10^-06
abnormal heart left ventricle morphology	Fbxo36^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.19×10^-06
decreased grip strength	Fbxo36^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.39×10^-05
increased red blood cell distribution width	Fbxo36^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.14×10^-05
increased neutrophil cell number	Fbxo36^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.36×10^-05
decreased mean platelet volume	Fbxo36^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.11×10^-11
decreased mean corpuscular volume	Fbxo36^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.54×10^-29
increased mean corpuscular hemoglobin concentration	Fbxo36^{tm1b(KOMP)Wtsi}	HOM	Early adult	7.81×10^-14
decreased hematocrit	Fbxo36^{tm1b(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.

Human diseases associated with Fbxo36 (0 diseases)
Human diseases predicted to be associated with Fbxo36 (564 diseases)

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	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
Delta-Beta-Thalassemia	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
Slc35A1-Cdg	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
Malaria	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
Trimethylaminuria	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
Alpha-Thalassemia	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
Beta-Thalassemia	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
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Alpha-Thalassemia	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
Leishmaniasis	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
Babesiosis	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
Tularemia	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
Preeclampsia	Thrombocytopenia	ORPHA:275555
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:251000
Stt3B-Cdg	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
Lathosterolosis	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
Cog4-Cdg	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
Alg8-Cdg	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
Thymoma	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
Shigellosis	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
Mogs-Cdg	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
Lathosterolosis	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

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