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Gene: Thop1 MGI:1354165

Gene Summary

Name:

thimet oligopeptidase 1

Synonyms:

EP24.15

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
small kidney	Thop1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Thop1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal retina morphology	Thop1^em1(IMPC)Mbp	HOM	Late adult	3.35×10^-06
enlarged seminal vesicle	Thop1^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Thop1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal retina vasculature morphology	Thop1^em1(IMPC)Mbp	HOM	Late adult	1.04×10^-05
abnormal testis morphology	Thop1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Thop1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased leukocyte cell number	Thop1^em1(IMPC)Mbp	HOM	Late adult	5.64×10^-05
abnormal spleen morphology	Thop1^em1(IMPC)Mbp	HOM	Late adult	0.00
persistence of hyaloid vascular system	Thop1^em1(IMPC)Mbp	HOM	Early adult	1.00×10^-05
abnormal eye morphology	Thop1^em1(IMPC)Mbp	HOM	Late adult	0.00

Download data as: TSV XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Thop1 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 Thop1 (0 diseases)
Human diseases predicted to be associated with Thop1 (722 diseases)

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

The table below shows human diseases predicted to be associated to Thop1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmunity, Autoimmune thromb...	OMIM:614470
Immune Thrombocytopenia	Abnormal bleeding, Platelet antibody positive, Thrombocytopenia	OMIM:188030
Immunodeficiency 18	Recurrent respiratory infections, Recurrent gastroenteritis, Recurrent otitis media, Decreased pr...	OMIM:615615
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter...	OMIM:202700
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Recu...	ORPHA:2688
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i...	OMIM:155100
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:231200
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre...	OMIM:273800
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count, Chronic oral candidiasis, Recurrent infections	OMIM:615592
Thrombocytopenia 2	Leukocytosis, Bruising susceptibility, Thrombocytopenia	OMIM:188000
Glanzmann Thrombasthenia 2	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ...	OMIM:619267
Pseudo-Von Willebrand Disease	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr...	ORPHA:486
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Systemic lupus erythematosus, Leukopenia, Monocytosis	OMIM:616871
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, B lymphocytopenia, Recurrent sinusi...	OMIM:619281
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc...	OMIM:614201
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ...	ORPHA:849
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency 8 With Lymphoproliferation	Recurrent upper respiratory tract infections, Attention deficit hyperactivity disorder, Chronic o...	OMIM:615401
Cernunnos-Xlf Deficiency	Autoimmunity, Recurrent viral infections, Anemia, T lymphocytopenia, Recurrent bacterial infectio...	ORPHA:169079
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia...	ORPHA:238459
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos...	OMIM:619130
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Eosinophilia, Familial	Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia	OMIM:131400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom...	ORPHA:444463
Immunodeficiency 24	Decreased CD4:CD8 ratio, Recurrent viral infections, Reduced proportion of mucosal-associated inv...	OMIM:615897
Bleeding Disorder, Platelet-Type, 9	Bruising susceptibility, Thrombocytopenia	OMIM:614200
Immunodeficiency 21	Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu...	OMIM:614172
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis...	OMIM:615888
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha...	OMIM:277480
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi...	OMIM:187900
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Recurrent infections, Irritability, Leukopenia, Neutropen...	OMIM:229050
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Neutropenia	OMIM:300988
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo...	ORPHA:231393
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegal...	ORPHA:3226
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Recurrent pneumonia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Recurrent l...	OMIM:619644
Myh9-Related Disease	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ...	ORPHA:182050
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Athrombia, Essential	Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega...	OMIM:209050
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su...	OMIM:601399
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist...	OMIM:139090
Bleeding Disorder, Platelet-Type, 24	Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele...	OMIM:619271
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Bleeding Disorder, Platelet-Type, 19	Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men...	OMIM:616176
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Platelet Signal Processing Defect	Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce...	OMIM:173590
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, N...	OMIM:615285
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga...	OMIM:609529
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb...	OMIM:124900
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Niemann-Pick Disease, Type B	Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blu...	OMIM:607616
Acute Myelomonocytic Leukemia	Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia	ORPHA:517
Bleeding Disorder, Platelet-Type, 16	Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi...	OMIM:187800
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic lupus erythematosus, Leuko...	OMIM:301080
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Autoimmune antibody positivity, Retinal hemorrhage, Re...	ORPHA:88
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia, Recurrent infections	OMIM:614493
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Aregenerative Anemia	Abnormal bleeding, Pancytopenia, Abnormal proportion of CD8-positive T cells, Fatigable weakness ...	ORPHA:101096
Immunodeficiency 46	Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Chronic o...	OMIM:616740
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Pancytopenia, Impaired neutrophil chemotaxis, Recurrent pneumon...	OMIM:618986
Immunodeficiency 97 With Autoinflammation	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent urinary tract infectio...	OMIM:619802
Reticular Dysgenesis	Congenital agranulocytosis, Sepsis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Immunodeficiency 32B	Recurrent respiratory infections, Neutrophilia, Eosinophilia, Splenomegaly, Recurrent infections,...	OMIM:226990
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte...	OMIM:612541
Babesiosis	Hemolytic anemia, Confusion, Anorexia, Splenomegaly, Recurrent pharyngitis, Depression, Recurrent...	ORPHA:108
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, R...	OMIM:603909
Alpha-Thalassemia-Myelodysplastic Syndrome	Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept...	ORPHA:231401
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Immunodeficiency 11A	Monocytopenia, Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T c...	OMIM:615206
Gray Platelet Syndrome	Abnormal bleeding, Abnormality of thrombocytes, Epistaxis, Splenomegaly, Bruising susceptibility,...	ORPHA:721
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Increased mean platelet volume, Recurrent viral infections, Impaired ADP-induc...	OMIM:617443
Immunodeficiency 95	Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Lymphopenia...	OMIM:619773
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Autoimmunity, Recurrent opportunistic infections, Recurrent upper respiratory tract infections, R...	ORPHA:277
Hermansky-Pudlak Syndrome 2	Prolonged bleeding time, Absent platelet dense granules, Chronic oral candidiasis, Splenomegaly, ...	OMIM:608233
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Recurrent viral infections, Antinuclear antibody positivity, Anti-thyroi...	OMIM:618048
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Acquired Idiopathic Sideroblastic Anemia	Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate ...	ORPHA:75564
Wiskott-Aldrich Syndrome	Sepsis, Iron deficiency anemia, Prolonged bleeding time, Absent microvilli on the surface of peri...	OMIM:301000
Hermansky-Pudlak Syndrome 6	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,...	OMIM:614075
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Autoimmunity, Abnormalit...	ORPHA:229717
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Recurren...	ORPHA:331206
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom...	OMIM:150550
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Intracranial hemorrhage, Hypoplasia of...	ORPHA:906
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Subcutaneous hemorrhage	ORPHA:1980
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Refractory Anemia	Abnormal bleeding, Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythro...	ORPHA:98826
Bleeding Disorder, Platelet-Type, 14	Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis	OMIM:614158
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, Recurrent infections, B lymp...	OMIM:301078
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d...	OMIM:137560
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Factor V Deficiency	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B...	OMIM:227400
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Anticardiolipin IgG antibody positivity, Hyperspl...	ORPHA:64743
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet...	OMIM:614074
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane...	OMIM:617780
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Eosinophilia, Autoimmune thrombocytopenia, Recurrent viral infections, Decreased...	ORPHA:169154
Bleeding Disorder, Platelet-Type, 20	Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia	OMIM:613554
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Antinuclear antibody positivity, Lupus anticoagulant, Lymphopenia, Thrombocytop...	OMIM:616744
Thrombocytopenia 5	Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula...	OMIM:616216
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, R...	OMIM:602271
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	ORPHA:231736
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Aicardi-Goutieres Syndrome 6	Splenomegaly, Irritability, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, T lymphocytopenia...	OMIM:615518
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Gamma-Heavy Chain Disease	Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocy...	ORPHA:100026
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Recurrent i...	OMIM:616576
Storage Pool Platelet Disease	Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Congenital Disorder Of Glycosylation, Type Iif	Subcutaneous hemorrhage, Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decr...	OMIM:603585
Blue Rubber Bleb Nevus	Prolonged bleeding time, Intestinal bleeding, Microcytic anemia	ORPHA:1059
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia, Purpura	ORPHA:529
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Primary Myelofibrosis	Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Anorexia, Thromboc...	ORPHA:824
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Recurrent sinopulmonary infections, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimm...	OMIM:619846
Essential Thrombocythemia	Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,...	ORPHA:3318
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg...	OMIM:614076
Systemic Lupus Erythematosus	Hemolytic anemia, Antiphospholipid antibody positivity, Antinuclear antibody positivity, Systemic...	OMIM:152700
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent b...	OMIM:619164
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Specific Granule Deficiency 2	Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf...	OMIM:617475
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Recurrent respiratory infections, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Malaria	Anemia, Cognitive impairment, Thrombocytopenia	ORPHA:673
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Purine Nucleoside Phosphorylase Deficiency	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hyperactivity, Autoimmunity, Autoi...	ORPHA:760
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Hepatosplenomegaly,...	OMIM:613101
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Re...	OMIM:615559
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect...	OMIM:614868
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Gaucher Disease, Type Iii	Pancytopenia, Progressive neurologic deterioration, Splenomegaly, Depression, Dementia, Thrombocy...	OMIM:231000
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Autoim...	ORPHA:572
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume	OMIM:615193
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto...	OMIM:153670
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time, Dysphagia	ORPHA:638
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Reduced natural killer cell count, Recurrent infections, Neutro...	OMIM:615214
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Felty Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmunity, Splenomegaly,...	ORPHA:47612
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Recurrent respiratory infections, Anemia	OMIM:618116
Atelis Syndrome 1	Recurrent infections, Anemia, Leukopenia, Attention deficit hyperactivity disorder, Thrombocytopenia	OMIM:620184
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Acute Promyelocytic Leukemia	Abnormal bleeding, Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Thrombocytopen...	ORPHA:520
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,...	ORPHA:3002
Preeclampsia	Helicobacter pylori infection, Autoimmunity, Thrombocytopenia	ORPHA:275555
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportuni...	ORPHA:275
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Anorexia, Recurrent pneumonia, Recurrent candida infections, Hepatosplenomegaly, Re...	ORPHA:169160
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Cog4-Cdg	Neonatal sepsis, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Irritability, ...	ORPHA:263501
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pharyngi...	OMIM:308240
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Immunodeficiency 10	Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections	OMIM:612783
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Leishmaniasis	Abnormal bleeding, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Anemia, ...	ORPHA:507
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Autoimmunity, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial...	ORPHA:169090
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho...	ORPHA:79124
Diffuse Alveolar Hemorrhage	Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Antinuclear antib...	ORPHA:90060
Immunodeficiency 36 With Lymphoproliferation	Autoimmunity, Splenomegaly, Recurrent upper respiratory tract infections, Chronic lymphatic leuke...	OMIM:616005
Acquired Purpura Fulminans	Sepsis, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage...	ORPHA:49566
Congenital Enterovirus Infection	Abnormal bleeding, Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Sepsis, Irrita...	ORPHA:292
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Sepsis, Anemia, Neutropenia	ORPHA:289916
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Autoimmunity...	OMIM:137100
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Autoimmu...	OMIM:615387
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Abnormal bleeding, Thrombocytopenia	OMIM:314000
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage, Microcytic anemia	ORPHA:90308
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Autoimmunity, Splenomegal...	ORPHA:809
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections...	OMIM:618495
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni...	OMIM:603554
Aicardi-Goutieres Syndrome 5	Irritability, Thrombocytopenia	OMIM:612952
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Quebec Platelet Disorder	Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi...	OMIM:601709
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Portal Hypertension, Noncirrhotic, 2	Petechiae, Epistaxis, Splenomegaly, Recurrent infections, Ecchymosis, Thrombocytopenia	OMIM:619463
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Rhabdoid Tumor	Irritability, Thrombocytopenia, Internal hemorrhage, Anemia	ORPHA:69077
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr...	ORPHA:158029
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacterial...	ORPHA:276
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia	OMIM:613313
Hereditary Folate Malabsorption	Recurrent respiratory infections, Recurrent urinary tract infections, Pancytopenia, Eosinophilia,...	ORPHA:90045
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A...	OMIM:602390
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Attention deficit hyperactivity disorder, Thrombocyto...	OMIM:619151
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly	OMIM:610539
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili...	OMIM:300367
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Relapsing Fever	Abnormal bleeding, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Prolonged...	ORPHA:91547
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Ebola Hemorrhagic Fever	Abnormal bleeding, Gastrointestinal hemorrhage, Sepsis, Melena, Leukopenia, Dysphagia, Lymphopeni...	ORPHA:319218
Macrophage Activation Syndrome	Autoimmunity, Splenomegaly, Systemic lupus erythematosus, Anemia, Hemophagocytosis, Neutropenia, ...	ORPHA:158061
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Confusion, Leukocytosis, Depression, Hashimoto thyroiditis, Thrombocytopenia	ORPHA:83601
Drug-Induced Lupus Erythematosus	Petechiae, Antinuclear antibody positivity, Thrombocytopenia, Autoimmune antibody positivity, Lup...	ORPHA:231111
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Autoimmunity, Recurrent pneumonia, Sepsis, Anemia, Neutrop...	ORPHA:47
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Isovaleric Acidemia	Thrombocytopenia, Leukopenia, Cerebellar hemorrhage, Pancytopenia	OMIM:243500
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells	OMIM:619693
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ...	OMIM:214500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Confusion, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Immunodeficiency 22	Autoimmunity, Abscess, Recurrent upper respiratory tract infections, Anemia, Chronic oral candidi...	OMIM:615758
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Irritability, Thrombocytopenia	ORPHA:848
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosi...	ORPHA:98850
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Recurrent tonsillitis, Sepsis, Decreased eosinophil count, ...	ORPHA:2686
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:615085
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Antinuclear antibody positivity, Recurrent pneumonia, Decreased mean platelet volume, Recurrent i...	OMIM:617718
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia,...	OMIM:614700
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natural killer cell coun...	OMIM:616050
Joubert Syndrome 33	Cone/cone-rod dystrophy, Splenomegaly	OMIM:617767
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:79312
Prolidase Deficiency	Petechiae, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Recurrent infections, Systemic lu...	OMIM:170100
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Neonatal Lupus Erythematosus	Abnormal bleeding, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegal...	ORPHA:398124
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ...	OMIM:120200
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Rheumatoid factor positive, Abscess, Perianal abscess, Splenomegaly, Recurrent ...	OMIM:618935
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Dysphagia	OMIM:619751
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopeni...	ORPHA:443811
Sneddon Syndrome	Mental deterioration, Antiphospholipid antibody positivity, Lymphopenia, Cerebral hemorrhage	OMIM:182410
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer...	ORPHA:167
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Congenital Toxoplasmosis	Cognitive impairment, Thrombocytopenia, Anemia	ORPHA:858
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre...	OMIM:242700
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red cell aplasia, Autoimmun...	OMIM:613179
Bernard-Soulier Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc...	ORPHA:274
Pediatric-Onset Graves Disease	Hyperactivity, Autoimmunity, Splenomegaly, Anti-thyroid peroxidase antibody positivity, Neutropen...	ORPHA:525731
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Irritability, Neutropenia, Thrombocytopenia	OMIM:246400
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Optic disc pallor, Reticulocytosis, Splenomegaly, Optic atrophy, Anemia, Thrombocyt...	OMIM:611490
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Pediatric Systemic Lupus Erythematosus	Antiphospholipid antibody positivity, Antinuclear antibody positivity, Systemic lupus erythematos...	ORPHA:93552
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Leukopenia, L...	OMIM:620210
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisop...	ORPHA:35858
Immunodeficiency 40	Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Chronic oral candidiasis, Recurre...	OMIM:616433
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leukopenia, Gingiv...	ORPHA:99828
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro...	ORPHA:853
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Tularemia	Brain abscess, Confusion, Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess	ORPHA:3392
Selective Igm Deficiency	Recurrent staphylococcal infections, Sepsis, Recurrent cutaneous fungal infections, Decreased pro...	ORPHA:331235
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Overlap Myositis	Autoimmunity, Antinuclear antibody positivity, Systemic lupus erythematosus, Leukopenia, Rheumato...	ORPHA:206572
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Catastrophic Antiphospholipid Syndrome	Antiphospholipid antibody positivity, Anticardiolipin IgG antibody positivity, Systemic lupus ery...	ORPHA:464343
Anterior Cutaneous Nerve Entrapment Syndrome	Recurrent urinary tract infections, Anorexia, Leukocytosis, Recurrent infection of the gastrointe...	ORPHA:51890
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia	OMIM:614727
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Aicardi-Goutieres Syndrome 4	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610333
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Antiphospholipid antibody positivity, Rheumatoid factor positiv...	OMIM:615934
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Thiamine-Responsive Megaloblastic Anemia Syndrome	Anorexia, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Snakebite Envenomation	Abnormal bleeding, Epistaxis, Neuromuscular dysphagia, Intracranial hemorrhage, Pseudobulbar para...	ORPHA:449285
Hemophagocytic Lymphohistiocytosis, Familial, 1	Thrombocytopenia, Splenomegaly, Irritability, Prolonged prothrombin time, Leukopenia, Hemophagocy...	OMIM:267700
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia, Dysphagia	OMIM:615750
Refractory Anemia With Excess Blasts	Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal...	ORPHA:86839
Tufted Angioma	Anemia, Thrombocytopenia, Petechiae, Purpura	ORPHA:1063
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent upper respirato...	OMIM:616100
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Hemochromatosis, Type 3	Lymphopenia, Neutropenia, Anemia, Purpura	OMIM:604250
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Irritability, Prolonged prothro...	OMIM:603553
Mirage Syndrome	Recurrent urinary tract infections, Petechiae, Thrombocytopenia, Sepsis, Intracranial hemorrhage,...	OMIM:617053
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Impotence, ...	OMIM:235200
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,...	OMIM:618849
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Recurrent pneumonia, Recurrent infections, Leukopenia, Prolonged prothrombin t...	OMIM:616271
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Recurrent opportunistic infections, Thrombocytopenia	OMIM:613987
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Wilson Disease	Aggressive behavior, Splenomegaly, Hypersexuality, Depression, Anemia, Bruising susceptibility, T...	ORPHA:905
Vitamin B12-Unresponsive Methylmalonic Acidemia	Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia	ORPHA:27
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Sengers Syndrome	Mental deterioration, Thrombocytopenia	OMIM:212350
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, T lymphocytopenia, Decreased proportion of CD4-positive helper ...	OMIM:619510
Dentinogenesis Imperfecta	Prolonged bleeding time, Bruising susceptibility	ORPHA:49042
Holocarboxylase Synthetase Deficiency	Irritability, Thrombocytopenia, Anorexia	ORPHA:79242
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Aggressive behavior, Irritability, Lymphopenia, Abnormal repetitive mannerisms	ORPHA:391307
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Sitosterolemia 1	Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos...	OMIM:210250
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Transaldolase Deficiency	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:101028
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia...	OMIM:619752
Shwachman-Diamond Syndrome 2	Normocytic anemia, Recurrent infections, Prolonged prothrombin time, Neutropenia, Thrombocytopenia	OMIM:617941
Schimke Immuno-Osseous Dysplasia	Autoimmunity, Thrombocytopenia, Recurrent infections, Decreased proportion of naive CD8 T cells, ...	ORPHA:1830
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Epistaxis, Hematochezia, Gingival bleeding, Ecchymosis, Bruising suscept...	OMIM:203300
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent Aspergillus infections, Autoimmune hemolytic anemia, Antiphospholipid antibody positivi...	ORPHA:391487
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukopenia, B ...	ORPHA:508542
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody...	OMIM:607944
Stormorken Syndrome	Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto...	OMIM:185070
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Propionic Acidemia	Pancytopenia, Cerebellar hemorrhage, Anemia, Neutropenia, Thrombocytopenia	OMIM:606054
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi...	OMIM:102700
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Acute Radiation Syndrome	Abnormal bleeding, Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs...	ORPHA:35078
Fetal Gaucher Disease	Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thrombocytopenia	ORPHA:85212
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Sepsis, Recurrent bacterial infections,...	OMIM:308230
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Cerebellar hemorrhage, Thrombocytopenia, Neutropenia	OMIM:251000
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopath...	ORPHA:2330
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Pancytopenia, Splenomegaly, Recurrent infections, Thrombocytopenia	OMIM:614576
Necrotizing Enterocolitis	Neonatal sepsis, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Thrombocytopenia 6	Abnormal bleeding, Spontaneous, recurrent epistaxis, Thrombocytopenia	OMIM:616937
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal T cell morphology, Anemia, Recurrent infections, Neutropenia, Lymphopenia,...	OMIM:242900
Familial Hemophagocytic Lymphohistiocytosis	Thrombocytopenia, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Ecchymosis, Bruising susce...	ORPHA:540
Q Fever	Antiphospholipid antibody positivity, Rheumatoid factor positive, Anorexia, Anticardiolipin IgG a...	ORPHA:781
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent ...	OMIM:617303
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura	OMIM:605432
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Macs Syndrome	Prolonged bleeding time, Bruising susceptibility	OMIM:613075
Boutonneuse Fever	Leukopenia, Thrombocytopenia, Petechiae	ORPHA:83313
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Rheumatoid factor positive, Eosinophilia, Rec...	OMIM:615816
Sepsis In Premature Infants	Abnormal bleeding, Neonatal sepsis, Thrombocytopenia, Leukocytosis, Splenomegaly, Anemia, Neutrop...	ORPHA:90051
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Gaucher Disease Type 1	Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Gingival bleed...	ORPHA:77259
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Systemic Lupus Erythematosus	Hemolytic anemia, Antinuclear antibody positivity, Anti-La/SS-B antibody positivity, Depression, ...	ORPHA:536
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-neg...	ORPHA:3261
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Congenital thrombocytopenia, Cerebral hemorrhage	OMIM:618886
Aicardi-Goutieres Syndrome 1	Antiphospholipid antibody positivity, Petechiae, Splenomegaly, Self-mutilation, Thrombocytopenia,...	OMIM:225750
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Recurrent infections, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Congenital Rubella Syndrome	Splenomegaly, Thrombocytopenia, Anemia	ORPHA:290
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal bleeding, Lymphopenia	OMIM:207731
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Recurrent infections, Persistence of hemoglobin F, Anemia, ...	OMIM:260400
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Recurrent...	OMIM:617052
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Recurrent infections, Anemia, Neutropenia, Thrombocytopenia	OMIM:277380
Avian Influenza	Leukopenia, Lymphopenia, Sepsis, Thrombocytopenia	ORPHA:454836
Thrombocytopenia 3	Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume	OMIM:273900
Acyl-Coa Dehydrogenase 9 Deficiency	Fatigable weakness, Thrombocytopenia, Cerebellar hemorrhage, Prolonged prothrombin time	ORPHA:99901
Osteogenesis Imperfecta, Type Xvi	Prolonged bleeding time, Bruising susceptibility	OMIM:616229
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hyperactivity, Recurrent bronchi...	OMIM:251260
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Recurren...	OMIM:600802
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Severe temper tantrums, Thrombocytopenia, Aggressive behavior	OMIM:617710
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Lujo Hemorrhagic Fever	Confusion, Excessive bleeding after a venipuncture, Leukocytosis, Subconjunctival hemorrhage, Leu...	ORPHA:319213
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia...	OMIM:610377
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormal ...	ORPHA:247691
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Cognitive impairment, Thrombo...	OMIM:235400
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Lig4 Syndrome	Acute lymphoblastic leukemia, Recurrent respiratory infections, Pancytopenia, Thrombocytopenia	OMIM:606593
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal bleeding, Lymphopenia	ORPHA:1116
Intermediate Osteopetrosis	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:210110
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Leukopenia, Thrombocytopenia, Pancytopenia, Anemia	OMIM:613845
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Splenomegaly, Leukocytosis, Lupus anticoagulant, Hepatosplenomegaly, Recurrent infe...	OMIM:615688
Bacterial Toxic-Shock Syndrome	Recurrent urinary tract infections, Confusion, Abscess, Sepsis, Increased circulating myelocyte c...	ORPHA:36234
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Retinal dystrophy, Hypogonadotropic hypogonadism, Splenome...	ORPHA:251066
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Thrombocytopenia 1	Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility...	OMIM:313900
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Macrocephaly/Autism Syndrome	Short attention span, Splenomegaly, Recurrent infections, Recurrent otitis media, Lymphopenia	OMIM:605309
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Tick-Borne Encephalitis	Anorexia, Leukocytosis, Depression, Leukopenia, Diminished ability to concentrate, Cognitive impa...	ORPHA:297
Congenital Fibrinogen Deficiency	Abnormal bleeding, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time, Gingival ble...	ORPHA:335
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Anorexia, Thrombocytopenia, Reticulocytopenia, Recurrent infe...	OMIM:557000
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Sepsis, Dysphagia, Anemia, Neutrop...	ORPHA:537
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis, Lipemia retinalis	OMIM:207750
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr...	ORPHA:99147
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptibility, Thromboc...	OMIM:600901
Vexas Syndrome	Macrocytic anemia, Autoimmune antibody positivity, Thrombocytopenia	OMIM:301054
Icf Syndrome	Anemia, Recurrent respiratory infections, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time	ORPHA:1901
Wolfram Syndrome 1	Sideroblastic anemia, Dysphagia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Zika Virus Disease	Thrombocytopenia, Subcutaneous hemorrhage	ORPHA:448237
21Q22.11Q22.12 Microdeletion Syndrome	Hyperactivity, Tongue thrusting, Anemia, Self-injurious behavior, Stereotypical body rocking, Bru...	ORPHA:261323
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr...	OMIM:259720
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Shigellosis	Abscess, Anorexia, Leukocytosis, Sepsis, Microangiopathic hemolytic anemia, Splenic abscess, Thro...	ORPHA:810
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Recurrent respiratory infections, Abnormality of neutrophils, Sepsis...	ORPHA:36426
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Gaucher Disease, Type Ii	Progressive neurologic deterioration, Splenomegaly, Anemia, Dysphagia, Bronchiolitis, Thrombocyto...	OMIM:230900
Holocarboxylase Synthetase Deficiency	Irritability, Thrombocytopenia	OMIM:253270
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Confusion, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:274150
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptibility, Thromboc...	OMIM:227650
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Caroli Syndrome	Abnormal bleeding, Liver abscess, Hematemesis, Hypersplenism, Leukocytosis, Sepsis, Melena, Leuko...	ORPHA:480520
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Vestibular areflexia, Thrombocytopenia	ORPHA:3240
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Anemia	OMIM:608104
Common Variable Immunodeficiency	Hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Splenomegaly, Ly...	ORPHA:1572
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Recurrent infections, Neutropenia	OMIM:617827
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Thrombocytopenia, Splenomegaly, Hepatosplenome...	ORPHA:464329
Recon Progeroid Syndrome	Thrombocytopenia, Anemia, Recurrent infections	OMIM:620370
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Transaldolase Deficiency	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:606003
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo...	ORPHA:244242
Alg12-Cdg	Recurrent respiratory infections, Recurrent ear infections, Recurrent pharyngitis, Recurrent pneu...	ORPHA:79324
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopeni...	ORPHA:227990
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia, Recurrent infections	OMIM:611209
Crimean-Congo Hemorrhagic Fever	Anorexia, Leukopenia, Ecchymosis, Internal hemorrhage, Neutrophilia, Confusion, Leukocytosis, Hem...	ORPHA:99827
Pseudo-Torch Syndrome 2	Thrombocytopenia, Cerebral hemorrhage, Petechiae	OMIM:617397
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:614162
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, L...	OMIM:260920
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Gaucher Disease, Perinatal Lethal	Petechiae, Progressive neurologic deterioration, Thrombocytopenia, Splenomegaly, Hepatosplenomega...	OMIM:608013
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Recurrent resp...	ORPHA:647
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopeni...	ORPHA:227982
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Irritability, Microangiopathic hemolytic anemia, T...	ORPHA:90038
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis	OMIM:238600
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptibility, Thromboc...	OMIM:227645
Brucellosis	Liver abscess, Rheumatoid factor positive, Lung abscess, Anorexia, Hypersplenism, Thrombocytopeni...	ORPHA:1304
Alg8-Cdg	Thrombocytopenia, Anemia	ORPHA:79325
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia, Petechiae	OMIM:251290
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Thrombocytopenia	OMIM:301056
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level	OMIM:619767
Noonan Syndrome 4	Abnormal bleeding, Bruising susceptibility, Thrombocytopenia	OMIM:610733
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Confusion, Megaloblastic anemia, Dementia, Neutropenia, Delirium, Thrombocytopenia	OMIM:277400
Osteopetrosis, Autosomal Recessive 1	Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia	OMIM:259700
Marburg Hemorrhagic Fever	Abnormal bleeding, Reticulocytosis, Lymphopenia, Confusion, Anorexia, Aggressive behavior, Excess...	ORPHA:99826
Dyskeratosis Congenita, Autosomal Dominant 3	Leukopenia, Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:613990
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Recurrent infections, Leukopenia, Recurrent ba...	OMIM:300972
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:3322
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Blue Rubber Bleb Nevus	Iron deficiency anemia, Intestinal bleeding, Thrombocytopenia	OMIM:112200
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
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
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice...	OMIM:615512
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251100
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Leukopenia, Thrombocytopenia	ORPHA:974
Neuroleptic Malignant Syndrome	Leukocytosis, Sepsis, Agitation, Dysphagia, Thrombocytosis, Delirium, Thrombocytopenia	ORPHA:94093
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytope...	OMIM:616084
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Confusion, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatospleno...	ORPHA:3260
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin...	ORPHA:464321
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Abnormal bleeding, Thrombocytopenia	OMIM:208085
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume, Recurrent infections	OMIM:616737
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Depression, Iron deficiency anemia, Prolonged prothrombin time, Thrombocytosis	OMIM:212750
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Lysinuric Protein Intolerance	Abnormal bleeding, Antinuclear antibody positivity, Hepatosplenomegaly, Anemia, Leukopenia, Recur...	ORPHA:470
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Confusion, Euphoria, Intracranial hemorrhage, Dep...	ORPHA:90062
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Hematemesis, Thrombocytopenia, Splenomegaly, Hematochezia, Irrita...	OMIM:615846
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Rift Valley Fever	Abnormal bleeding, Anorexia, Hematemesis, Thrombocytopenia, Retinal hemorrhage, Melena, Gingival ...	ORPHA:319251
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis	OMIM:615947
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Attention deficit hyperactivity disorder, Neutropenia, L...	OMIM:227646
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Cognitive impairment, Recurrent respiratory infections, Lymphopenia, Anemia	ORPHA:935
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Sepsis, Hepatosplenomegaly, Anemia, Leukopenia, Recurrent gastr...	ORPHA:505248
Sialuria	Memory impairment, Prolonged prothrombin time, Attention deficit hyperactivity disorder, Hepatosp...	ORPHA:3166
Gaucher Disease Type 3	Recurrent respiratory infections, Pancytopenia, Splenomegaly, Anemia, Dementia, Thrombocytopenia	ORPHA:77261
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Thrombocytopenia	ORPHA:457351
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Neutropenia, Enlarged ...	OMIM:232220
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Confusion, Hematemesis, Thrombocytopenia, Leukocytosis, Intracranial hemorrhage, Melen...	ORPHA:340
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Abnormal bleeding, Prolonged prothrombin time, Epistaxis	OMIM:610842
Vici Syndrome	Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ...	OMIM:242840
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Subdural hemorrhage, Dementia, Neutropenia, Mental deterioration, Memory im...	ORPHA:79282
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal bleeding, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Depression, Systemic...	ORPHA:77293
Farber Disease	Thrombocytopenia, Recurrent upper respiratory tract infections, Anemia, Hepatosplenomegaly	ORPHA:333
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia	OMIM:614946
Dubowitz Syndrome	Abnormality of neutrophils, Recurrent infections, Acute lymphoblastic leukemia, Anemia, Attention...	ORPHA:235
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia, Dysphagia	ORPHA:261250
Cushing Disease	Lymphopenia, Fatiguable weakness of proximal limb muscles, Leukocytosis, Recurrent cutaneous fung...	ORPHA:96253
3-Hydroxy-3-Methylglutaric Aciduria	Anorexia, Leukocytosis, Leukopenia, Prolonged prothrombin time, Thrombocytosis, Anemia	ORPHA:20
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Whim Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo...	ORPHA:51636
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Wars2-Related Combined Oxidative Phosphorylation Defect	Dysphagia, Thrombocytopenia, Aggressive behavior	ORPHA:572798
Generalized Pustular Psoriasis	Leukocytosis, Lymphopenia, Sepsis	ORPHA:247353
Insulin-Resistance Syndrome Type B	Autoimmunity, Antinuclear antibody positivity, Systemic lupus erythematosus, Leukopenia, Thromboc...	ORPHA:2298
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Mental deterioration, Normochromic anemia, Thrombocytopenia, Dysphagia	OMIM:254900
Lysinuric Protein Intolerance	Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia, Pulmonary hemorrhage	OMIM:222700
Fanconi Anemia, Complementation Group F	Leukopenia, Thrombocytopenia, Anemia	OMIM:603467
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Recurrent infections, Anemia, Lymphopenia, Thrombocyt...	OMIM:620005
Congenital Erythropoietic Porphyria	Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisoc...	ORPHA:79277
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Bruising susceptibility, Thrombocytopenia	OMIM:612394
Primary Sjögren Syndrome	Normocytic anemia, Depression, Leukopenia, Normochromic anemia, Dementia, Cognitive impairment, D...	ORPHA:289390
Atelis Syndrome 2	Vitreous hemorrhage, Thrombocytopenia, Anemia, Attention deficit hyperactivity disorder	OMIM:620185
Kikuchi-Fujimoto Disease	Anorexia, Antinuclear antibody positivity, Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutr...	ORPHA:50918
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Thrombocytopenia	OMIM:618775
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Mental deterioration, Thrombocytopenia, Intestinal bleeding, Anemia	OMIM:612199
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Attention deficit hyperactivity disorder, Abnormal repetitive...	OMIM:619005
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Liver Failure, Infantile, Transient	Irritability, Prolonged prothrombin time	OMIM:613070
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Proteinuria, Remnants of the hyaloid vascular sy...	OMIM:609049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp...	OMIM:614643
Primary Sclerosing Cholangitis	Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Autoimmunity, Splenomegal...	ORPHA:171
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Combined Oxidative Phosphorylation Deficiency 55	Thrombocytopenia, Anemia	OMIM:619743
Dyskeratosis Congenita	Recurrent respiratory infections, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Anemia	ORPHA:1775
Yellow Fever	Abnormal bleeding, Neutrophilia, Excessive bleeding after a venipuncture, Hematemesis, Leukocytos...	ORPHA:99829
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,...	ORPHA:567983
Reynolds Syndrome	Gastrointestinal hemorrhage, Antinuclear antibody positivity, Splenomegaly, Anti-centromere antib...	OMIM:613471
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Splenomegaly, Thrombocytopenia	OMIM:251880
Congenital Bile Acid Synthesis Defect Type 2	Prolonged prothrombin time, Extramedullary hematopoiesis	ORPHA:79303
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:221900
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Recurrent urinary tract infections, Hypersplenism, Splenomegaly, Rec...	ORPHA:731
Gaucher Disease	Abnormal bleeding, Pancytopenia, Splenomegaly, Depression, Anemia, Gingival bleeding, Dysphagia, ...	ORPHA:355
Mogs-Cdg	Thrombocytopenia, Hepatosplenomegaly	ORPHA:79330
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Anemia, Prolonged prothrombin time, Bleeding with minor or no tr...	OMIM:619525
Infantile Liver Failure Syndrome 3	Splenomegaly, Prolonged prothrombin time	OMIM:618641
Classical Ehlers-Danlos Syndrome	Ecchymosis, Prolonged bleeding time, Bruising susceptibility	ORPHA:287
Ogden Syndrome	Abnormal repetitive mannerisms, Recurrent infections, Irritability, Iron deficiency anemia, Dysph...	OMIM:300855
Hardikar Syndrome	Recurrent urinary tract infections, Hematemesis, Hypersplenism, Splenomegaly, Hepatosplenomegaly,...	OMIM:301068
Wilson Disease	Hemolytic anemia, Splenomegaly, Anemia, Dementia, Dysphagia, Thrombocytopenia	OMIM:277900
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Secondary Intestinal Lymphangiectasia	Intestinal bleeding, Lymphopenia, Autoimmunity, Recurrent infections	ORPHA:90363
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume, Recurrent infections	ORPHA:487796
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Prolonged bleeding following circumcision, Hepatosplenomegaly, Anemia...	OMIM:274000
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Anemia	ORPHA:160
Jacobsen Syndrome	Recurrent respiratory infections, Thrombocytopenia	OMIM:147791
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Prolonged prothrombin time, Hepatosplenomegaly	ORPHA:367
Pearson Syndrome	Reticulocytosis, Pancytopenia, Splenomegaly, Dysphagia, Anemia, Neutropenia, Hypoplastic spleen, ...	ORPHA:699
Cardiac-Urogenital Syndrome	Accessory spleen, Prolonged bleeding time	OMIM:618280
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Thrombocytopenia, Depression, Self-injurious behavior, Attentio...	ORPHA:534
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Abnormality of thrombocytes, Autoimmunity, Splenomegaly, Depression,...	ORPHA:567
Cog8-Cdg	Spontaneous hematomas, Prolonged prothrombin time	ORPHA:95428
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time	OMIM:616483
Igg4-Related Dacryoadenitis And Sialadenitis	Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivity, Autoimmunity, Th...	ORPHA:79078
Deeah Syndrome	Decreased hemoglobin concentration, Self-mutilation, Thrombocytopenia, Dysphagia	OMIM:619004
Aicardi-Goutières Syndrome	Autoimmunity, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegal...	ORPHA:51
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Sple...	ORPHA:2072
Jacobsen Syndrome	Recurrent respiratory infections, Attention deficit hyperactivity disorder, Thrombocytopenia	ORPHA:2308
Liver Disease, Severe Congenital	Short attention span, Recurrent urinary tract infections, Thrombocytopenia, Splenomegaly, Sepsis,...	OMIM:619991
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Thrombocytopenia	ORPHA:2785
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Prolonged prothrombin time	OMIM:212065
Cornelia De Lange Syndrome 1	Self-injurious behavior, Thrombocytopenia	OMIM:122470
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
S-Adenosylhomocysteine Hydrolase Deficiency	Short attention span, Prolonged prothrombin time	ORPHA:88618
Noonan Syndrome 9	Prolonged prothrombin time	OMIM:616559
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Thrombocytopenia,...	ORPHA:84
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Intracranial hemorrhage, Thrombocytopenia, Anemia	ORPHA:163979
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia	OMIM:301072
Tangier Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:31150
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Leukocytosis, Brain abscess, Thrombocytopenia	ORPHA:544482
Exercise-Induced Malignant Hyperthermia	Abnormal bleeding, Confusion, Delirium, Thrombocytopenia	ORPHA:466650
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Recurrent respiratory infections, Splenomegaly, Prolonged prothrombin time, Impaired oropharyngea...	ORPHA:404454
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Prolonged prothrombin time	OMIM:214950
Hypermethioninemia Due To Adenosine Kinase Deficiency	Prolonged prothrombin time	OMIM:614300
Porphyria, Congenital Erythropoietic	Splenomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:263700
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Irritability, Prolonged prothrombin time	OMIM:311250
Cushing Syndrome Due To Ectopic Acth Secretion	Lymphopenia, Anorexia, Fatiguable weakness of proximal limb muscles, Leukocytosis, Recurrent cuta...	ORPHA:99889
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Thrombocytopenia	OMIM:305000
Congenital Disorder Of Glycosylation, Type It	Recurrent otitis media, Prolonged prothrombin time	OMIM:614921
Abetalipoproteinemia	Abnormal bleeding, Reticulocytosis, Acanthocytosis, Prolonged prothrombin time, Anemia	ORPHA:14
Digeorge Syndrome	Splenomegaly, Recurrent pneumonia, Recurrent infections, Anemia, Hypoplasia of the thymus, Recurr...	OMIM:188400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged prothrombin time, Confusion	ORPHA:71212
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Splenomegaly, Recurrent upper respiratory tract infections, Recurrent sinusiti...	OMIM:256040
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Splenomegaly, Prolonged prothrombin time, Polycythemia	ORPHA:309854
Combined Oxidative Phosphorylation Deficiency 37	Prolonged prothrombin time, Progressive neurologic deterioration	OMIM:618329
Monosomy 13Q34	Hematochezia, Prolonged prothrombin time, Epistaxis	ORPHA:96168
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time	OMIM:617049
Leptospirosis	Anorexia, Retinal hemorrhage, Subconjunctival hemorrhage, Thrombocytopenia, Pulmonary hemorrhage	ORPHA:509
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Splenomegaly, Melena, Prolonged prothrombin time, Anemia	OMIM:276700
Osteogenesis Imperfecta	Thrombocytopenia, Bruising susceptibility, Cerebral hemorrhage, Dysphagia	ORPHA:666
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Microphthalmia, Syndromic 2	Remnants of the hyaloid vascular system, Retinal detachment, Hypospadias, Iris coloboma	OMIM:300166
Sarcoidosis	Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia	ORPHA:797
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Abnormal bleeding, Gastrointestinal hemorrhage, Hepatosplenomegaly, Prolonged prothrombin time, A...	ORPHA:247598
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Isolated Biliary Atresia	Splenomegaly, Prolonged prothrombin time	ORPHA:30391
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Prolonged prothrombin time	OMIM:619055
Noonan Syndrome 1	Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Bruising s...	OMIM:163950
Neuroocular Syndrome	Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:619539
Norrie Disease	Remnants of the hyaloid vascular system, Retinal detachment, Optic atrophy	ORPHA:649

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Sex	Life Stage
Bone marrow - MPATH pathological process term hyperplasia	Thop1^em1(IMPC)Mbp	HOM		Late adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Thop1.

No publications found that use IMPC mice or data for Thop1.

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MGI Allele	Allele Type	Produced
Thop1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Thop1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Thop1 MGI:1354165

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Thop1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data