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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
abnormal retina morphology	Thop1^em1(IMPC)Mbp	HOM	Late adult	4.11×10^-07
abnormal testis morphology	Thop1^em1(IMPC)Mbp	HOM	Late adult	0.00
small kidney	Thop1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Thop1^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged seminal vesicle	Thop1^em1(IMPC)Mbp	HOM	Late adult	0.00
persistence of hyaloid vascular system	Thop1^em1(IMPC)Mbp	HOM	Early adult	2.97×10^-06
abnormal skin morphology	Thop1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal eye morphology	Thop1^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased leukocyte cell number	Thop1^em1(IMPC)Mbp	HOM	Late adult	5.64×10^-05
abnormal kidney morphology	Thop1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal retina vasculature morphology	Thop1^em1(IMPC)Mbp	HOM	Late adult	1.04×10^-05
abnormal spleen morphology	Thop1^em1(IMPC)Mbp	HOM	Late adult	0.00

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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 (747 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	Recurrent respiratory infections, Pancytopenia, Lymphocytosis, Recurrent infections, Splenomegaly...	OMIM:614470
Immune Thrombocytopenia	Abnormal bleeding, Thrombocytopenia, Platelet antibody positive	OMIM:188030
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced pla...	OMIM:155100
Bernard-Soulier Syndrome	Purpura, Abnormal bleeding, Giant platelets, Gastrointestinal hemorrhage, Gingival bleeding, Meno...	OMIM:231200
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Impaired...	OMIM:273800
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Adult Idiopathic Neutropenia	Recurrent infections, Helicobacter pylori infection, Lymphopenia, Monocytopenia, Monocytosis, Rec...	ORPHA:2688
Immunodeficiency 15B	Recurrent infections, Chronic oral candidiasis, Monocytosis, Reduced natural killer cell count	OMIM:615592
Glanzmann Thrombasthenia 2	Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, D...	OMIM:619267
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Platelet Glycoprotein Iv Deficiency	Prolonged bleeding time, Thrombocytopenia, Giant platelets, Abnormal bleeding	OMIM:608404
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Monocytosis, Leukopenia, Systemic lupus erythematosus, Refractory anemia	OMIM:616871
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Recurrent ear infections, Acute lymphoblastic leukemia, ...	ORPHA:486
Bleeding Disorder, Platelet-Type, 11	Abnormal platelet count, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, ...	OMIM:614201
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Recurrent pneumonia, Recurrent sinusi...	OMIM:619281
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Immunodeficiency 8 With Lymphoproliferation	Chronic oral candidiasis, Recurrent otitis media, Recurrent lower respiratory tract infections, L...	OMIM:615401
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Recurrent viral infections, Thrombocytopenia, Lymph...	ORPHA:169079
Thrombocytopenia With Beta-Thalassemia, X-Linked	Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro...	OMIM:314050
Slc35A1-Cdg	Abnormal bleeding, Giant platelets, Abnormal platelet granules, Subcutaneous hemorrhage, Thromboc...	ORPHA:238459
Thrombocytopenia 7	Post-partum hemorrhage, Impaired ADP-induced platelet aggregation, Impaired collagen-induced plat...	OMIM:619130
Immunodeficiency 24	Reduced proportion of mucosal-associated invariant T cells, Recurrent viral infections, Lymphopen...	OMIM:615897
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Systemic lupus erythematosus, Recurrent otitis media, Splenomegaly, ...	ORPHA:444463
Bleeding Disorder, Platelet-Type, 9	Bruising susceptibility, Thrombocytopenia	OMIM:614200
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Antinuclear antibody positivity, Abnormal B cell count, Recurrent respirat...	OMIM:613495
Eosinophilia, Familial	Anemia, Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Eosinophilia	OMIM:131400
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent viral infections, Recurrent my...	OMIM:614172
Bleeding Disorder, Platelet-Type, 18	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Men...	OMIM:615888
Von Willebrand Disease, Type 3	Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time, Menorrhagia, Joint hem...	OMIM:277480
Glanzmann Thrombasthenia	Spontaneous hematomas, Gastrointestinal hemorrhage, Purpura, Spontaneous, recurrent epistaxis, Gi...	ORPHA:849
Immunodeficiency 50	Recurrent urinary tract infections, Recurrent respiratory infections, Neutropenia, Lymphopenia	OMIM:300988
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation...	OMIM:187900
Essential Thrombocythemia	Acute leukemia, Abnormal bleeding, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Sp...	ORPHA:3318
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Impaired ADP-induced plate...	OMIM:618462
Folate Malabsorption, Hereditary	Irritability, Folate-responsive megaloblastic anemia, Recurrent infections, Thrombocytopenia, Leu...	OMIM:229050
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal h...	ORPHA:231393
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Spontaneous, recurrent epistaxis, Increased mean pl...	ORPHA:182050
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto...	ORPHA:3226
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Recurrent lower respiratory tract infections, Neutrophilia, Thrombocytopenia, H...	OMIM:619644
Bleeding Disorder, Platelet-Type, 25	Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi...	OMIM:620486
Thrombocytopenia, Paris-Trousseau Type	Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia	OMIM:188025
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe...	OMIM:209050
Platelet Disorder, Undefined	Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia	OMIM:173420
Gray Platelet Syndrome	Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granu...	OMIM:139090
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impa...	OMIM:619271
Immunoglobulin A Deficiency 2	Autoimmunity, Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, ...	OMIM:609529
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Bleeding Disorder, Platelet-Type, 19	Spontaneous hematomas, Abnormal bleeding, Anemia, Menorrhagia, Thrombocytopenia, Epistaxis, Macro...	OMIM:616176
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Neutropenia	OMIM:300299
Von Willebrand Disease, X-Linked Form	Prolonged bleeding time, Abnormal bleeding	OMIM:314560
Tn Polyagglutination Syndrome	Autoimmunity, Abnormal erythrocyte morphology	OMIM:300622
Platelet Signal Processing Defect	Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel...	OMIM:173590
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Anemia, Recurrent infections, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopo...	OMIM:615285
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Abnormal bleeding, Giant platelets, Anemia, Impaired platelet aggregation,...	OMIM:187800
Tatsumi Factor Deficiency	Prolonged bleeding time, Abnormal bleeding	OMIM:272650
Immunodeficiency 18	Recurrent otitis media, Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, ...	OMIM:615615
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Thrombocytopenia, Macrothromb...	OMIM:124900
Systemic Lupus Erythematosus 17	Systemic lupus erythematosus, Anti-aquaporin 4 antibody positivity, Thrombocytopenia, Antinuclear...	OMIM:301080
Acute Myelomonocytic Leukemia	Abnormal bleeding, Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia	ORPHA:517
Immunodeficiency 52	Abnormal natural killer cell count, Recurrent infections, T lymphocytopenia, Recurrent pneumonia,...	OMIM:617514
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Recurrent...	OMIM:607616
Thrombocytopenia 9	Abnormal bleeding, Thrombocytopenia, Abnormal platelet aggregation	OMIM:620478
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Recurrent respiratory infections, Leukocytosis, Recurrent viral infe...	OMIM:620565
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Purpura, Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, P...	OMIM:601399
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent respirato...	OMIM:618986
Wiskott-Aldrich Syndrome 2	Recurrent infections, Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Recurrent otitis media, Decreased proportion of CD8-positive T cells...	OMIM:619802
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Aregenerative Anemia	Abnormal bleeding, Erythroid hypoplasia, Pancytopenia, Fatigable weakness of skeletal muscles, Ab...	ORPHA:101096
Immunodeficiency 46	Chronic oral candidiasis, Sepsis, Anemia, Intermittent thrombocytopenia, Recurrent sinopulmonary ...	OMIM:616740
Reticular Dysgenesis	Sepsis, Congenital agranulocytosis, Hypoplasia of the thymus, Leukopenia, Lymphopenia	OMIM:267500
Immunodeficiency 32B	Anemia, Recurrent infections, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosino...	OMIM:226990
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Anti-smooth muscle antibody positivity,...	OMIM:603909
Babesiosis	Anorexia, Recurrent pharyngitis, Depression, Recurrent infections, Confusion, Thrombocytopenia, L...	ORPHA:108
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Sepsis, Neonatal sepsis, Anemia, Erythroid hypoplasia, Recurrent lower respirat...	OMIM:612541
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Immunodeficiency 11A	Monocytopenia, Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T c...	OMIM:615206
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Abnormal bleeding, Thrombocytopenia, Splenomegaly, Bruising susce...	ORPHA:231401
Gray Platelet Syndrome	Abnormal bleeding, Thrombocytopenia, Splenomegaly, Epistaxis, Bruising susceptibility, Abnormalit...	ORPHA:721
Hermansky-Pudlak Syndrome 2	Recurrent abscess formation, Absent platelet dense granules, Chronic oral candidiasis, Recurrent ...	OMIM:608233
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Incr...	OMIM:617443
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, B lymphocytopenia, Anti-thyroid peroxidase antibody positivity, T lymphoc...	ORPHA:277
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Abnormal bleeding, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, ...	ORPHA:75564
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Wiskott-Aldrich Syndrome	Hematemesis, Spontaneous hematomas, Abnormal platelet function, Abnormal platelet morphology, Epi...	ORPHA:906
Amegakaryocytic Thrombocytopenia, Congenital, 1	Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Proteasome-Associated Autoinflammatory Syndrome 2	B lymphocytopenia, Anti-thyroglobulin antibody positivity, Anti-thyroid peroxidase antibody posit...	OMIM:618048
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Wiskott-Aldrich Syndrome	Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Epi...	OMIM:301000
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Isolated Agammaglobulinemia	Sepsis, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Recurrent cutaneous abscess for...	ORPHA:229717
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Recurrent bacterial infections, ...	ORPHA:331206
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ...	OMIM:305390
Bilateral Striopallidodentate Calcinosis	Subcutaneous hemorrhage, Thrombocytopenia	ORPHA:1980
Immunodeficiency 95	Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Recurrent v...	OMIM:619773
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Recurrent infections, B lymphocytopenia, Recurrent pneumonia, Abscess, ...	OMIM:150550
Immune Thrombocytopenia	Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Thrombocytopenia, Epistaxis, ...	ORPHA:3002
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hemophagocytosis, ...	OMIM:301078
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Refractory Anemia	Normocytic anemia, Abnormal bleeding, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemi...	ORPHA:98826
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre...	ORPHA:891
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Bruising susceptibility, Prolonge...	OMIM:137560
Factor V Deficiency	Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P...	OMIM:227400
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Menorrhagia, Thrombocy...	OMIM:614074
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Recurrent infections, Decrea...	OMIM:613011
Hepatoportal Sclerosis	Prolonged prothrombin time, Gastrointestinal hemorrhage, Anti-smooth muscle antibody positivity, ...	ORPHA:64743
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Recurrent infections, Reticulocytopenia, Gingival bleeding, Retinal hemorrh...	ORPHA:88
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, Petechiae, B Acute Lymphoblastic Leukemia, Thrombocyto...	OMIM:616216
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Recurrent infections, Me...	OMIM:617780
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent candida infections, Neonatal sepsis, Decreased proportion of CD8-positive T cells, Recu...	ORPHA:169154
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Bleeding Disorder, Platelet-Type, 20	Bruising susceptibility, Menorrhagia, Thrombocytopenia, Epistaxis	OMIM:616913
Von Willebrand Disease, Type 2	Bruising susceptibility, Menorrhagia, Thrombocytopenia, Epistaxis	OMIM:613554
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lupus anticoagulant, Antinuclear antibody positivity, Thrombocytopenia, Lymphopenia, Hemolytic an...	OMIM:616744
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo...	OMIM:133780
Storage Pool Platelet Disease	Acute leukemia, Prolonged bleeding time, Abnormal bleeding, Decreased mean platelet volume	OMIM:185050
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Recurrent infections, Recurrent pneumonia, Thrombocytopenia, Recurre...	OMIM:616576
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Anemia, Leukemia, Neutropenia	OMIM:614082
Immunodeficiency 112	Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cells, Decrea...	OMIM:620449
Blue Rubber Bleb Nevus	Prolonged bleeding time, Microcytic anemia, Intestinal bleeding	ORPHA:1059
Immunodeficiency 13	Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positiv...	OMIM:615518
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Pulmonary hemorrhage...	OMIM:603585
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Anemia, Recurrent respiratory infections, Abnormal lymphocyte morpho...	ORPHA:100026
Roch-Leri Mesosomatous Lipomatosis	Purpura, Thrombocytopenia	ORPHA:529
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Recurrent infections, Recurrent respiratory infections, Reduced natur...	OMIM:615214
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, B lymp...	ORPHA:231154
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Aicardi-Goutieres Syndrome 6	Irritability, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Hermansky-Pudlak Syndrome 7	Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Persistent bleedin...	OMIM:614076
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h...	OMIM:263300
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Lymphopenia, Recurrent sinopulmonary infec...	OMIM:619846
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Cone/cone-rod dystrophy, Splenomegaly, Retinal degeneration, Rod-cone dystrophy	OMIM:602271
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Prothrombin Deficiency, Congenital	Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he...	OMIM:613679
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Autoimmune hemolytic anemia, Systemic lupus erythematosus, Recurrent ...	ORPHA:760
Systemic Lupus Erythematosus	Antiphospholipid antibody positivity, Antinuclear antibody positivity, Thrombocytopenia, Leukopen...	OMIM:152700
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epista...	OMIM:193400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Recurrent otitis media, Recurrent lower respiratory tract infections...	OMIM:615559
Specific Granule Deficiency 2	Sepsis, Recurrent otitis media, Anemia, Recurrent pneumonia, Thrombocytopenia, Absent neutrophil ...	OMIM:617475
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Chronic mucocu...	OMIM:614868
Immunodeficiency 76	B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphopenia, Recurrent b...	OMIM:619164
Malaria	Thrombocytopenia, Anemia, Cognitive impairment	ORPHA:673
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Anti-dsD...	OMIM:619375
Transcobalamin Deficiency	Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia	ORPHA:859
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Recurrent candida infections, Recurrent Staphylococcus aureus infect...	ORPHA:572
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Recurrent sinusitis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly...	OMIM:613101
Gaucher Disease, Type Iii	Pancytopenia, Depression, Thrombocytopenia, Splenomegaly, Progressive neurologic deterioration, D...	OMIM:231000
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Bone Marrow Failure Syndrome 2	Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Petechiae, Gingival bleeding, Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increa...	OMIM:153670
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time, Dysphagia	ORPHA:638
Congenital Factor Ii Deficiency	Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Anemia, Excessive bleeding from s...	ORPHA:325
Bone Marrow Failure Syndrome 4	Thrombocytopenia, Anemia, Leukopenia, Recurrent respiratory infections	OMIM:618116
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia	OMIM:247800
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Recurrent pharyngitis, Pancytopenia, Lymphocytosis, Abnormal T...	OMIM:308240
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Acute Promyelocytic Leukemia	Anorexia, Abnormal bleeding, Purpura, Anemia, Pancytopenia, Petechiae, Gingival bleeding, Leukocy...	ORPHA:520
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia	OMIM:603552
Diffuse Alveolar Hemorrhage	Anemia, Antiphospholipid antibody positivity, Leukocytosis, Rheumatoid factor positive, Antinucle...	ORPHA:90060
Hemophilia B	Cephalohematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemorrhage, Intr...	ORPHA:98879
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Depression, Confusion, Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia	ORPHA:83601
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Primary Myelofibrosis	Anorexia, Abnormal bleeding, Purpura, Anemia, Pancytopenia, Petechiae, Extramedullary hematopoies...	ORPHA:824
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Atelis Syndrome 1	Anemia, Recurrent infections, Thrombocytopenia, Leukopenia, Attention deficit hyperactivity disorder	OMIM:620184
Felty Syndrome	Sepsis, Anemia, Recurrent pharyngitis, Recurrent infections, Recurrent urinary tract infections, ...	ORPHA:47612
Eales Disease	Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters...	ORPHA:40923
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Re...	ORPHA:275
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Anorexia, Fa...	ORPHA:169160
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Cog4-Cdg	Irritability, Neonatal sepsis, Recurrent infection of the gastrointestinal tract, Thrombocytopeni...	ORPHA:263501
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Leishmaniasis	Anorexia, Abnormal bleeding, Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Sp...	ORPHA:507
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Immunodeficiency 7	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Splenomegaly, Hype...	OMIM:615387
Acquired Purpura Fulminans	Prolonged prothrombin time, Sepsis, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intra...	ORPHA:49566
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr...	OMIM:616005
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent abscess formation, Anemia, Abnormal natural killer cell count, Pancytopenia, Recurrent ...	ORPHA:79124
Congenital Enterovirus Infection	Irritability, Abnormal bleeding, Sepsis, Anemia, Abnormal macrophage morphology, Leukocytosis, Le...	ORPHA:292
Combined Immunodeficiency Due To Crac Channel Dysfunction	Sepsis, Recurrent viral infections, Thrombocytopenia, Splenomegaly, Recurrent mycobacterial infec...	ORPHA:169090
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Thrombocytopenia 2	Abnormal platelet shape, Leukocytosis, Thrombocytopenia, Bruising susceptibility, Abnormal platel...	OMIM:188000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Anemia, Sepsis, Neutropenia	ORPHA:289916
Klippel-Trénaunay Syndrome	Prolonged bleeding time, Gastrointestinal hemorrhage, Microcytic anemia, Internal hemorrhage	ORPHA:90308
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Recurrent otitis media, Recurrent urinary tract infections, Splenome...	OMIM:618495
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Portal Hypertension, Noncirrhotic, 2	Petechiae, Recurrent infections, Ecchymosis, Epistaxis, Thrombocytopenia, Splenomegaly	OMIM:619463
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Purpura, Leukopenia, Splenomegaly, Autoimmunity, Prolonged bleeding ...	ORPHA:809
Quebec Platelet Disorder	Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopeni...	OMIM:601709
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Abnormal bleeding, Thrombocytopenia	OMIM:314000
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Omenn Syndrome	Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Recurrent viral in...	OMIM:603554
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Leukopenia, Abnormal platelet aggregation	OMIM:614171
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Chronic oral candidiasis, Sepsis, Recurrent opportunistic infections, Decreased proportion of CD3...	ORPHA:276
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Anemia, Photoreceptor layer loss on macular OCT, Retinal...	OMIM:616959
Aicardi-Goutieres Syndrome 5	Irritability, Thrombocytopenia	OMIM:612952
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Retinopathy, Thrombocytopenia,...	ORPHA:158029
Hermansky-Pudlak Syndrome 6	Absent platelet dense granules, Recurrent urinary tract infections, Impaired ADP-induced platelet...	OMIM:614075
Hereditary Folate Malabsorption	Anorexia, Pancytopenia, Recurrent urinary tract infections, Megaloblastic anemia, Thrombocytopeni...	ORPHA:90045
Immunodeficiency 114, Folate-Responsive	Recurrent lower respiratory tract infections, Megaloblastic anemia, Thrombocytopenia, Splenomegal...	OMIM:620603
Ebola Hemorrhagic Fever	Abnormal bleeding, Gastrointestinal hemorrhage, Sepsis, Melena, Thrombocytopenia, Leukopenia, Dys...	ORPHA:319218
Relapsing Fever	Prolonged prothrombin time, Abnormal bleeding, Anemia, Leukocytosis, Neutrophilia, Thrombocytopen...	ORPHA:91547
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Rhabdoid Tumor	Irritability, Thrombocytopenia, Anemia, Internal hemorrhage	ORPHA:69077
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T...	OMIM:300835
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukopenia, Attention deficit hyperactivity dis...	OMIM:619151
Pelger-Huet Anomaly	Recurrent otitis media, Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia,...	OMIM:169400
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly	OMIM:610539
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Hepatic fibrosis	OMIM:613313
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:598500
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Petechiae, Anemia of inadequate production, Poikilocytosis, Epistaxis, Persistent bleeding after ...	OMIM:300367
Prolidase Deficiency	Anemia, Petechiae, Recurrent infections, Recurrent pneumonia, Thrombocytopenia, Splenomegaly, Sys...	OMIM:170100
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
X-Linked Agammaglobulinemia	Sepsis, Anemia, Recurrent pneumonia, Thrombocytopenia, Recurrent cutaneous abscess formation, Aut...	ORPHA:47
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Drug-Induced Lupus Erythematosus	Lupus anticoagulant, Anemia, Petechiae, Autoimmune antibody positivity, Antinuclear antibody posi...	ORPHA:231111
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Sepsis, Recurrent otitis media, Recurrent respiratory infections, Pa...	OMIM:614700
Thrombotic Thrombocytopenic Purpura	Confusion, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis	ORPHA:54057
Aggressive Systemic Mastocytosis	Anorexia, Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Pancytop...	ORPHA:98850
Beta-Thalassemia	Irritability, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia	ORPHA:848
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Recurrent infections, Schistocytosis, Recurrent infection of the gastrointestinal tract, ...	OMIM:301110
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:620481
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells	OMIM:619693
Chediak-Higashi Syndrome	Anemia, Hemophagocytosis, Recurrent infections, Spontaneous, recurrent epistaxis, Recurrent syste...	OMIM:214500
Macrophage Activation Syndrome	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Sys...	ORPHA:158061
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Neonatal Lupus Erythematosus	Aplastic anemia, Abnormal bleeding, Anemia, Pancytopenia, Autoimmune antibody positivity, Thrombo...	ORPHA:398124
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, T lymphocytopenia, Leukopenia, Lymphopenia, Reduced...	ORPHA:443811
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphocytosis, Decreased mean platelet volume, Recurrent infections, Perinuclear antineutrophil a...	OMIM:617718
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemolytic anem...	OMIM:304790
Immunodeficiency 22	Chronic oral candidiasis, Anemia, Recurrent lower respiratory tract infections, Decreased proport...	OMIM:615758
Cyclic Neutropenia	Perianal abscess, Sepsis, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocytopenia, De...	ORPHA:2686
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Hep...	ORPHA:158057
Bernard-Soulier Syndrome	Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platele...	ORPHA:274
Joubert Syndrome 33	Cone/cone-rod dystrophy, Splenomegaly	OMIM:617767
Pemphigus Vulgaris	Depression, Recurrent infections, Anti-desmoglein-3 antibody positivity, Anti-desmoglein-1 antibo...	ORPHA:704
Noonan Syndrome 12	Thrombocytopenia, Lymphopenia	OMIM:618624
Microphthalmia/Coloboma 12	Vesicoureteral reflux, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretina...	OMIM:120200
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Dysphagia	OMIM:619751
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count	ORPHA:100024
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Diffuse alveolar hemorrhage, Reduced natura...	OMIM:616050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Isovaleric Acidemia	Cerebellar hemorrhage, Thrombocytopenia, Leukopenia, Pancytopenia	OMIM:243500
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Recurrent tonsillitis, Recurrent infections, Rheumatoid factor positive, Onycho...	OMIM:618935
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sepsis, Recurrent otitis media, Recurrent bacterial infections, Cutaneous abscess, Recurrent vira...	OMIM:243700
Von Willebrand Disease	Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Abnormal platelet function, Menorrhagi...	ORPHA:903
Sneddon Syndrome	Antiphospholipid antibody positivity, Cerebral hemorrhage, Mental deterioration, Lymphopenia	OMIM:182410
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Selective Igm Deficiency	Decreased proportion of CD3-positive T cells, Decreased proportion of transitional B cells, Recur...	ORPHA:331235
Congenital Toxoplasmosis	Thrombocytopenia, Anemia, Cognitive impairment	ORPHA:858
Good Syndrome	Anemia, Fatigable weakness, Recurrent urinary tract infections, Abnormal leukocyte morphology, Th...	ORPHA:169105
T-Cell Immunodeficiency With Thymic Aplasia	Pyoderma, Aplasia of the thymus, Recurrent bronchopulmonary infections, T lymphocytopenia, Recurr...	OMIM:242700
Pediatric Systemic Lupus Erythematosus	Systemic lupus erythematosus, Lupus anticoagulant, Antiphospholipid antibody positivity, Lymphope...	ORPHA:93552
Fanconi Anemia, Complementation Group T	Thrombocytopenia, Anemia, Acute myeloid leukemia, Pancytopenia	OMIM:616435
Pediatric-Onset Graves Disease	Polydipsia, Irritability, Emotional lability, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:525731
Nephrotic Syndrome, Type 7	Thrombocytopenia, Hemolytic anemia	OMIM:615008
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Leukopenia, Splenomegaly, Lymphopenia, Recurrent respiratory ...	OMIM:620210
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ...	OMIM:611490
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Abnormal platelet function, Recurrent bacterial skin infections, C...	ORPHA:167
Vitreoretinochoroidopathy	Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti...	OMIM:193220
Letterer-Siwe Disease	Irritability, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Abnormal bleeding, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Ab...	ORPHA:35858
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Fetal And Neonatal Alloimmune Thrombocytopenia	Spontaneous hematomas, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Melena, Cephalohe...	ORPHA:853
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Immunodeficiency 40	Chronic oral candidiasis, Recurrent otitis media, Eosinophilic granuloma, T lymphocytopenia, Recu...	OMIM:616433
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Recurrent urinary tract infections, Leukocytosis, Allodynia, Recurrent infection of the...	ORPHA:51890
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Fetal Cytomegalovirus Syndrome	Optic atrophy, Jaundice, Anemia, Hepatomegaly, Chorioretinitis, Retinal hemorrhage, Thrombocytope...	ORPHA:294
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Dengue Fever	Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Thrombocytopenia, Leukopenia, Epistaxi...	ORPHA:99828
Tularemia	Anemia, Confusion, Leukocytosis, Thrombocytopenia, Cutaneous abscess, Brain abscess	ORPHA:3392
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Leukocytosis, Splenic infarction, Retinopathy, Target cel...	OMIM:603903
Thrombocytopenia 10	Abnormal bleeding, Decreased mean platelet volume, Petechiae, Spontaneous, recurrent epistaxis, M...	OMIM:620484
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia	OMIM:614727
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Recurrent respiratory infections, Antiphospholipid antibody positivity, Recurrent infecti...	OMIM:615934
Catastrophic Antiphospholipid Syndrome	Lupus anticoagulant, Dementia, Antiphospholipid antibody positivity, Anti-beta 2 glycoprotein I a...	ORPHA:464343
Tufted Angioma	Petechiae, Thrombocytopenia, Anemia, Purpura	ORPHA:1063
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
Overlap Myositis	Rheumatoid arthritis, Antinuclear antibody positivity, Thrombocytopenia, Leukopenia, Systemic lup...	ORPHA:206572
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Aicardi-Goutieres Syndrome 4	Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Pancytopenia	OMIM:610333
Hemophagocytic Lymphohistiocytosis, Familial, 1	Prolonged prothrombin time, Irritability, Anemia, Hemophagocytosis, Thrombocytopenia, Leukopenia,...	OMIM:267700
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Thiamine-Responsive Megaloblastic Anemia Syndrome	Anorexia, Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Refractory Anemia With Excess Blasts	Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal...	ORPHA:86839
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Disabling Pansclerotic Morphea Of Childhood	Recurrent infections, Neutropenia, Lymphopenia	OMIM:620443
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Snakebite Envenomation	Abnormal bleeding, Gingival bleeding, Neuromuscular dysphagia, Ecchymosis, Thrombocytopenia, Epis...	ORPHA:449285
Preeclampsia	Autoimmunity, Thrombocytopenia, Helicobacter pylori infection	ORPHA:275555
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia, Dysphagia	OMIM:615750
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism	OMIM:602390
Hemochromatosis, Type 3	Purpura, Neutropenia, Anemia, Lymphopenia	OMIM:604250
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc...	OMIM:613179
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Prolonged prothrombin time, Irritability, Anemia, Hemophagocytosis, Pancytopenia, Leukopenia, Spl...	OMIM:603553
Mirage Syndrome	Sepsis, Anemia, Petechiae, Recurrent urinary tract infections, Hypoplastic spleen, Thrombocytopen...	OMIM:617053
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Splenomegaly, ...	OMIM:616100
Vitamin B12-Unresponsive Methylmalonic Acidemia	Thrombocytopenia, Leukopenia, Anemia, Macrocytic anemia	ORPHA:27
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Recurrent sinusitis, Lymp...	OMIM:618849
3-Methylglutaconic Aciduria, Type Viib	Prolonged prothrombin time, Abnormal bleeding, Recurrent infections, Recurrent pneumonia, Thrombo...	OMIM:616271
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Dyskeratosis Congenita, Autosomal Recessive 2	Recurrent opportunistic infections, Thrombocytopenia, Pancytopenia	OMIM:613987
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc...	OMIM:615952
Fanconi Anemia, Complementation Group V	Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Sengers Syndrome	Thrombocytopenia, Mental deterioration	OMIM:212350
Wilson Disease	Anemia, Depression, Thrombocytopenia, Splenomegaly, Bruising susceptibility, Hypersexuality, Aggr...	ORPHA:905
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Dentinogenesis Imperfecta	Bruising susceptibility, Prolonged bleeding time	ORPHA:49042
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Holocarboxylase Synthetase Deficiency	Anorexia, Irritability, Thrombocytopenia	ORPHA:79242
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Irritability, Hyperactivity, Motor stereotypy, Lymphopenia, Aggressive behavior	ORPHA:391307
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Sitosterolemia 1	Abnormal bleeding, Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregati...	OMIM:210250
T-Cell Immunodeficiency With Thymic Aplasia	Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i...	ORPHA:83471
Hermansky-Pudlak Syndrome 1	Gingival bleeding, Ecchymosis, Epistaxis, Hematochezia, Bruising susceptibility, Prolonged bleedi...	OMIM:203300
Transaldolase Deficiency	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:101028
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Chronic mucocutaneous candidiasis, Recurrent upper respiratory tract infections, Cutaneous absces...	OMIM:619752
Schimke Immuno-Osseous Dysplasia	Anemia, Abnormal proportion of naive CD4 T cells, Recurrent infections, Decreased proportion of n...	ORPHA:1830
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Spondyloenchondrodysplasia With Immune Dysregulation	Systemic lupus erythematosus, Purpura, Recurrent otitis media, Juvenile rheumatoid arthritis, Rec...	OMIM:607944
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, Recurrent lower respiratory tract infections, B lymphocytopenia, Reticulocytopenia, Leuko...	ORPHA:508542
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Shwachman-Diamond Syndrome 2	Prolonged prothrombin time, Normocytic anemia, Recurrent infections, Thrombocytopenia, Neutropenia	OMIM:617941
Gaucher Disease Type 1	Anorexia, Abnormal bleeding, Anemia, Pancytopenia, Depression, Gingival bleeding, Splenic infarct...	ORPHA:77259
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt...	OMIM:243150
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Thrombocytopenia, Leukopenia	OMIM:231095
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Chron...	OMIM:102700
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Stormorken Syndrome	Abnormal bleeding, Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia, E...	OMIM:185070
Acute Radiation Syndrome	Abnormal bleeding, Thrombocytopenia, Granulocytopenia, Lymphopenia	ORPHA:454831
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Propionic Acidemia	Cerebellar hemorrhage, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:606054
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism, Macular atrophy	OMIM:230800
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Fetal Gaucher Disease	Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage	ORPHA:85212
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Immunodeficiency With Hyper-Igm, Type 1	Chronic oral candidiasis, Sepsis, Recurrent lower respiratory tract infections, Thrombocytopenia,...	OMIM:308230
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent r...	ORPHA:35078
Q Fever	Anorexia, Purpura, Anti-smooth muscle antibody positivity, Anemia, Lupus anticoagulant, Antiphosp...	ORPHA:781
Kasabach-Merritt Phenomenon	Prolonged prothrombin time, Purpura, Anemia, Petechiae, Reticulocytosis, Leukopenia, Thrombocytop...	ORPHA:2330
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Immunodeficiency 23	Recurrent Staphylococcus aureus infections, Chronic mucocutaneous candidiasis, Rheumatoid factor ...	OMIM:615816
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Testicular atrophy, Ascites, Sple...	OMIM:235200
Boutonneuse Fever	Petechiae, Thrombocytopenia, Leukopenia	ORPHA:83313
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, Anemia of inadequate produ...	ORPHA:231222
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Pancytopenia, Recurrent infections, Thrombocytopenia, Splenomegaly	OMIM:614576
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Thrombocytopenia 6	Abnormal bleeding, Thrombocytopenia, Spontaneous, recurrent epistaxis	OMIM:616937
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Pancytopenia, Recurrent infections, Thrombocytopenia, Lymphop...	OMIM:242900
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Sepsis, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pa...	ORPHA:811
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili...	ORPHA:1414
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Macs Syndrome	Prolonged bleeding time, Bruising susceptibility	OMIM:613075
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Recurrent Aspergillus infectio...	ORPHA:391487
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Purpura, Amegakaryocytic thrombocytopenia, Petechiae, Congenital thrombocytopenia	OMIM:605432
Familial Hemophagocytic Lymphohistiocytosis	Purpura, Anemia, Hemophagocytosis, Petechiae, Thrombocytopenia, Splenomegaly, Ecchymosis, Bruisin...	ORPHA:540
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Mucopolysaccharidosis-Plus Syndrome	Sepsis, Anemia, Recurrent bronchopulmonary infections, Recurrent pneumonia, Thrombocytopenia, Leu...	OMIM:617303
Congenital Factor X Deficiency	Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor...	ORPHA:328
Thrombocytopenia 3	Decreased mean platelet volume, Petechiae, Thrombocytopenia, Epistaxis	OMIM:273900
Griscelli Syndrome	Thrombocytopenia, Abnormality of neutrophils, Leukopenia, Splenomegaly	ORPHA:381
Sepsis In Premature Infants	Abnormal bleeding, Purpura, Anemia, Neonatal sepsis, Petechiae, Leukocytosis, Thrombocytopenia, S...	ORPHA:90051
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal bleeding, Lymphopenia	OMIM:207731
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Normochromic anemia, Neutropenia	OMIM:614857
Avian Influenza	Thrombocytopenia, Leukopenia, Sepsis, Lymphopenia	ORPHA:454836
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Recurrent infections, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Osteogenesis Imperfecta, Type Xvi	Bruising susceptibility, Prolonged bleeding time	OMIM:616229
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Anemia, Leukocytosis, Congenital thrombocytopenia	OMIM:618886
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Thrombocytopenia, Cerebellar hemorrhage, Leukopenia, Neutropenia	OMIM:251000
Congenital Rubella Syndrome	Thrombocytopenia, Anemia, Splenomegaly	ORPHA:290
Systemic Lupus Erythematosus	Anorexia, Anti-U1 ribonucleoprotein antibody positivity, Depression, Anti-Sm antibody positivity,...	ORPHA:536
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype...	OMIM:617021
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Combined Deficiency Of Factor V And Factor Viii	Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo...	ORPHA:35909
Shwachman-Diamond Syndrome 1	Anemia, Acute myeloid leukemia, Pancytopenia, Recurrent infections, Persistence of hemoglobin F, ...	OMIM:260400
Acyl-Coa Dehydrogenase 9 Deficiency	Prolonged prothrombin time, Cerebellar hemorrhage, Thrombocytopenia, Fatigable weakness	ORPHA:99901
Bone Marrow Failure Syndrome 3	Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,...	OMIM:617052
Congenital Factor Vii Deficiency	Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin...	ORPHA:327
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Aicardi-Goutieres Syndrome 1	Purpura, Antiphospholipid antibody positivity, Petechiae, Thrombocytopenia, Splenomegaly, Self-mu...	OMIM:225750
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Splenomegaly, Bruising susceptibility, Lymphopenia, Abnormal blee...	ORPHA:3261
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal bleeding, Lymphopenia	ORPHA:1116
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Severe temper tantrums, Thrombocytopenia, Aggressive behavior	OMIM:617710
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Anemia, Pancytopenia, Recurrent infections, Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:277380
Lujo Hemorrhagic Fever	Purpura, Confusion, Leukocytosis, Thrombocytopenia, Leukopenia, Subconjunctival hemorrhage, Lymph...	ORPHA:319213
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Recurrent infections, Leukocytosis, Normocytic hypoplastic anem...	OMIM:610377
Transaldolase Deficiency	Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Hepatosplenomegaly, Splenome...	OMIM:606003
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Increased mean platelet volume, Anti-platelet antigen antibody positivity,...	OMIM:620475
Necrotizing Enterocolitis	Neonatal sepsis, Thrombocytopenia, Leukocytosis, Neutropenia	ORPHA:391673
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Hyperactivity, B lymphocytopenia, Recurrent ...	OMIM:251260
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Normochromic anemia, Retinal neovascularization, Retinal cotton wool spot, Abn...	ORPHA:247691
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Anemia, Lymphopenia	OMIM:620365
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Lig4 Syndrome	Acute lymphoblastic leukemia, Thrombocytopenia, Recurrent respiratory infections, Pancytopenia	OMIM:606593
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Purpura, Reticulocytosis, Cognitive impairment, Thrombocytopenia, Microangiopathic hemolytic anem...	OMIM:235400
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Sepsis, Perinuclear antineutrophil antibody positivity, Anticardioli...	OMIM:619573
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low...	OMIM:600802
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Purpura, Recurrent otitis media, Anemia, Lupus anticoagulant, Agitation, Pancytopenia, Recurrent ...	OMIM:615688
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Thrombocytopenia, Leukopenia, Anemia, Pancytopenia	OMIM:613845
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Bacterial Toxic-Shock Syndrome	Sepsis, Recurrent urinary tract infections, Confusion, Increased circulating myelocyte count, Ecc...	ORPHA:36234
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Toxic Epidermal Necrolysis	Polydipsia, Gastrointestinal hemorrhage, Sepsis, Anemia, Thrombocytopenia, Dysphagia, Recurrent r...	ORPHA:537
Acquired Von Willebrand Syndrome	Prolonged prothrombin time, Normocytic anemia, Gastrointestinal hemorrhage, Melena, Subcutaneous ...	ORPHA:99147
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Thrombocytopenia 1	Decreased mean platelet volume, Petechiae, Joint hemorrhage, Epistaxis, Intermittent thrombocytop...	OMIM:313900
Congenital Fibrinogen Deficiency	Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Splenic ru...	ORPHA:335
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
8P11.2 Deletion Syndrome	Retinal dystrophy, Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Hypogonadism, C...	ORPHA:251066
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time	ORPHA:1901
Apolipoprotein C-Ii Deficiency	Lipemia retinalis, Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Pearson Marrow-Pancreas Syndrome	Anorexia, Refractory sideroblastic anemia, Anemia, Pancytopenia, Recurrent infections, Reticulocy...	OMIM:557000
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia, Vestibular areflexia	ORPHA:3240
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Gastrointestinal hemorrhage, Anemia, Macrocytic anemia, Pancytopenia, Leukopenia...	OMIM:613990
Tick-Borne Encephalitis	Anorexia, Fatigable weakness of respiratory muscles, Depression, Leukocytosis, Cognitive impairme...	ORPHA:297
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Icf Syndrome	Recurrent respiratory infections, Abnormality of neutrophils, Anemia, Lymphopenia	ORPHA:2268
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:613989
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Hemophagocytic Syndrome Associated With An Infection	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl...	ORPHA:158048
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Sepsis, Anemia, Thrombocytopenia, Dysphagia, Recurrent respiratory i...	ORPHA:36426
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Bruising susceptibility, Leukemia, Neu...	OMIM:600901
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Osteopetrosis, Autosomal Recessive 2	Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259710
Vexas Syndrome	Autoimmune antibody positivity, Thrombocytopenia, Macrocytic anemia	OMIM:301054
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Shigellosis	Anorexia, Purpura, Sepsis, Splenic abscess, Leukocytosis, Thrombocytopenia, Microangiopathic hemo...	ORPHA:810
Factor X Deficiency	Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra...	OMIM:227600
21Q22.11Q22.12 Microdeletion Syndrome	Recurrent otitis media, Anemia, Tongue thrusting, Hyperactivity, Stereotypical body rocking, Thro...	ORPHA:261323
Zika Virus Disease	Subcutaneous hemorrhage, Thrombocytopenia	ORPHA:448237
Osteopetrosis, Autosomal Recessive 5	Irritability, Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Hepatosplenomega...	OMIM:259720
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Dysphagia	OMIM:222300
Immunodeficiency 9	Recurrent infections, Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia	OMIM:612782
Gaucher Disease, Type Ii	Anemia, Bronchiolitis, Thrombocytopenia, Splenomegaly, Dysphagia, Progressive neurologic deterior...	OMIM:230900
Neuroblastoma	Irritability, Thrombocytopenia, Anemia, Abnormal bleeding	ORPHA:635
Caroli Syndrome	Hematemesis, Abnormal bleeding, Liver abscess, Sepsis, Melena, Leukocytosis, Thrombocytopenia, Le...	ORPHA:480520
Thrombotic Thrombocytopenic Purpura, Hereditary	Confusion, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Schistocytosis	OMIM:274150
Fanconi Anemia, Complementation Group A	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Bruising susceptibility, Leukemia, Neu...	OMIM:227650
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Anemia	OMIM:608104
Autoinflammatory Disease, Systemic, With Vasculitis	Purpura, Anemia, Lupus anticoagulant, Increased B cell count, Leukocytosis, Increased T cell coun...	OMIM:620376
Holocarboxylase Synthetase Deficiency	Irritability, Thrombocytopenia	OMIM:253270
Proteus-Like Syndrome	Retinal detachment, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Thymu...	ORPHA:2969
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly	OMIM:613027
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Anemia, Abnormal spleen morphology, Thrombocytopenia, Spl...	ORPHA:464329
Immunodeficiency 55	Recurrent infections, Absent natural killer cells, Neutropenia, Lymphopenia	OMIM:617827
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Immunodeficiency 31C	Autoimmune hemolytic anemia, Chronic oral candidiasis, Impaired lymphocyte transformation with ph...	OMIM:614162
Multiple Mitochondrial Dysfunctions Syndrome 7	Irritability, Agitation, Hyperactivity, Impulsivity, Exaggerated startle response, Thrombocytopenia	OMIM:620423
Common Variable Immunodeficiency	Purpura, Recurrent respiratory infections, Recurrent bronchitis, Splenomegaly, Lymphopenia, Autoi...	ORPHA:1572
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Congenital Disorder Of Glycosylation, Type Iig	Recurrent infections, Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Hellp Syndrome	Prolonged prothrombin time, Decreased mean corpuscular hemoglobin concentration, Internal hemorrh...	ORPHA:244242
Recon Progeroid Syndrome	Recurrent infections, Thrombocytopenia, Anemia	OMIM:620370
Alg12-Cdg	Prolonged prothrombin time, Sepsis, Recurrent pharyngitis, B lymphocytopenia, Recurrent ear infec...	ORPHA:79324
Pseudo-Torch Syndrome 2	Petechiae, Thrombocytopenia, Cerebral hemorrhage	OMIM:617397
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	OMIM:613812
Crimean-Congo Hemorrhagic Fever	Hematemesis, Spontaneous hematomas, Leukopenia, Splenomegaly, Epistaxis, Diffuse alveolar hemorrh...	ORPHA:99827
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Rod...	OMIM:260920
Cartilage-Hair Hypoplasia	Susceptibility to chickenpox, Impaired lymphocyte transformation with phytohemagglutinin, Anemia,...	OMIM:250250
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop...	OMIM:127550
Pseudo-Torch Syndrome 1	Petechiae, Thrombocytopenia, Splenomegaly	OMIM:251290
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Recurrent otitis media, Anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Lymphopenia, Recurren...	OMIM:620654
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Thrombocytopenia, Anemia, Neutropenia	OMIM:251110
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia	OMIM:619767
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Irritability, Leukocytosis, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia,...	ORPHA:90038
Gaucher Disease, Perinatal Lethal	Purpura, Anemia, Petechiae, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Dysphagia, Progre...	OMIM:608013
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Thrombocytopenia, Leukopenia	OMIM:301056
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Bruising susceptibility, Leukemia, Neu...	OMIM:227645
Marburg Hemorrhagic Fever	Prolonged prothrombin time, Anorexia, Abnormal bleeding, Petechiae, Neutrophilia in presence of i...	ORPHA:99826
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Alg8-Cdg	Thrombocytopenia, Anemia	ORPHA:79325
Blue Rubber Bleb Nevus	Thrombocytopenia, Iron deficiency anemia, Intestinal bleeding	OMIM:112200
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Thrombocytopenia, Anemia, Neutropenia	OMIM:251100
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Brucellosis	Lung abscess, Anorexia, Purpura, Liver abscess, Anemia, Depression, Leukocytosis, Rheumatoid fact...	ORPHA:1304
Noonan Syndrome 4	Bruising susceptibility, Abnormal bleeding, Thrombocytopenia	OMIM:610733
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Mental deterioration, Recurrent pneumonia, Thrombocy...	ORPHA:647
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Recurrent infections, Thrombocytopenia, Leukopenia, Splenome...	OMIM:300972
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:3322
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis...	OMIM:208540
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Retinal hemorrhage, Hematoch...	ORPHA:464321
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612926
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612924
Neuroleptic Malignant Syndrome	Sepsis, Agitation, Leukocytosis, Thrombocytopenia, Dysphagia, Delirium, Thrombocytosis	ORPHA:94093
Osteopetrosis, Autosomal Recessive 1	Thrombocytopenia, Anemia, Splenomegaly, Pancytopenia	OMIM:259700
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Splenomegaly, Rod-cone dy...	OMIM:616084
Idiopathic Hypereosinophilic Syndrome	Anemia, Dementia, Memory impairment, Confusion, Myeloproliferative disorder, Leukocytosis, Neutro...	ORPHA:3260
Adams-Oliver Syndrome	Thrombocytopenia, Leukopenia, Gastrointestinal hemorrhage	ORPHA:974
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Primary Sjögren Syndrome	Normocytic anemia, Purpura, Normochromic anemia, Dementia, Depression, Cognitive impairment, Anti...	ORPHA:289390
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole...	ORPHA:131
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612925
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Abnormal bleeding, Thrombocytopenia	OMIM:208085
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Hepatosplenomegaly, Splenomegaly, Lipemia retinalis	OMIM:238600
Takenouchi-Kosaki Syndrome	Recurrent infections, Increased mean platelet volume, Thrombocytopenia	OMIM:616737
Rift Valley Fever	Hematemesis, Anorexia, Abnormal bleeding, Anemia, Melena, Gingival bleeding, Retinal hemorrhage, ...	ORPHA:319251
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Celiac Disease, Susceptibility To, 1	Prolonged prothrombin time, Iron deficiency anemia, Macrocytic anemia, Depression, Thrombocytosis	OMIM:212750
Sialuria	Prolonged prothrombin time, Attention deficit hyperactivity disorder, Hepatosplenomegaly, Memory ...	ORPHA:3166
Acute Liver Failure	Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Agitation, Depression...	ORPHA:90062
Aicardi-Goutieres Syndrome 7	Hematemesis, Irritability, Anemia, Recurrent lower respiratory tract infections, Pancytopenia, Th...	OMIM:615846
Ivic Syndrome	Thrombocytopenia, Leukocytosis	ORPHA:2307
Lysinuric Protein Intolerance	Abnormal bleeding, Anemia, Hemophagocytosis, Cognitive impairment, Thrombocytopenia, Leukopenia, ...	ORPHA:470
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Cognitive impairment, Recurrent respiratory infections, Anemia, Lymphopenia	ORPHA:935
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Lipemia retinalis	OMIM:615947
Fanconi Anemia, Complementation Group D2	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Attention deficit hyperactivity disord...	OMIM:227646
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Sepsis, Anemia, Thrombocytopenia, Leukopenia, Hepatosplenomegaly, Recurrent gastroenteritis, Recu...	ORPHA:505248
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Prolonged prothrombin time, Abnormal bleeding, Epistaxis	OMIM:610842
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Splenomegaly, Lipemia reti...	OMIM:232220
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Thrombocytopenia, Motor stereotypy	ORPHA:457351
Vici Syndrome	Chronic mucocutaneous candidiasis, T lymphocytopenia, Recurrent viral infections, Decreased propo...	OMIM:242840
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Agitation, Anemia, Melena, Petechiae, Confusion, Leukocytosis, Internal hemorrhage, ...	ORPHA:340
Gaucher Disease Type 3	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Dementia, Recurrent respiratory infections	ORPHA:77261
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ...	OMIM:277450
3-Hydroxy-3-Methylglutaric Aciduria	Prolonged prothrombin time, Anorexia, Anemia, Leukocytosis, Leukopenia, Thrombocytosis	ORPHA:20
Persistent Hyperplastic Primary Vitreous	Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya...	ORPHA:91495
Hemophilia B	Hematemesis, Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena, Petechiae, Joint he...	OMIM:306900
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Mental deterioration, Thrombocytopenia, Dysphagia, Normochromic anemia	OMIM:254900
Cushing Disease	Purpura, Dementia, Decreased eosinophil count, Depression, Emotional lability, Memory impairment,...	ORPHA:96253
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Memory impairment, Megaloblastic anemia, Thrombocytopenia, Delirium, Dementia, Subdural hemorrhag...	ORPHA:79282
Dubowitz Syndrome	Anemia, Recurrent infections, Acute lymphoblastic leukemia, Thrombocytopenia, Attention deficit h...	ORPHA:235
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Confusion, Megaloblastic anemia, Thrombocytopenia, Delirium, Dementia, Neutropenia	OMIM:277400
Whim Syndrome	Sepsis, Abnormal neutrophil morphology, Recurrent pneumonia, Lymphopenia, Recurrent upper respira...	ORPHA:51636
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal bleeding, Depression, Acute promyelocytic leukemia, Thrombocytopenia, Splenomegaly, Syst...	ORPHA:77293
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia, Dysphagia	ORPHA:261250
Generalized Pustular Psoriasis	Sepsis, Leukocytosis, Lymphopenia	ORPHA:247353
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia	OMIM:614946
Insulin-Resistance Syndrome Type B	Antinuclear antibody positivity, Thrombocytopenia, Leukopenia, Systemic lupus erythematosus, Auto...	ORPHA:2298
Farber Disease	Thrombocytopenia, Hepatosplenomegaly, Anemia, Recurrent upper respiratory tract infections	ORPHA:333
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Thrombocytopenia, Pancytopenia	OMIM:224230
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Recurrent infections, Severe B lymphocytopenia, Thrombocytopenia, Lymph...	OMIM:620005
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia, Dysphagia, Aggressive behavior	ORPHA:572798
Fanconi Anemia, Complementation Group F	Thrombocytopenia, Leukopenia, Anemia	OMIM:603467
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Bruising susceptibility, Thrombocytopenia	OMIM:612394
Lysinuric Protein Intolerance	Anemia, Hemophagocytosis, Thrombocytopenia, Leukopenia, Splenomegaly, Pulmonary hemorrhage	OMIM:222700
Congenital Erythropoietic Porphyria	Abnormal bleeding, Recurrent bacterial skin infections, Reticulocytosis, Poikilocytosis, Anisocyt...	ORPHA:79277
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia, Motor stereotypy, Attention deficit hyperac...	OMIM:619005
Atelis Syndrome 2	Vitreous hemorrhage, Thrombocytopenia, Anemia, Attention deficit hyperactivity disorder	OMIM:620185
Kikuchi-Fujimoto Disease	Anorexia, Anemia, Lymphocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Antinuclear antibody...	ORPHA:50918
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Normochromic anemia	OMIM:618775
Liver Failure, Infantile, Transient	Prolonged prothrombin time, Irritability	OMIM:613070
Pierson Syndrome	Posterior lenticonus, Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorr...	OMIM:609049
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal dysp...	OMIM:614643
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Mental deterioration, Thrombocytopenia, Anemia, Intestinal bleeding	OMIM:612199
Ivic Syndrome	Thrombocytopenia, Leukocytosis	OMIM:147750
Congenital Syphilis	Purpura, Anemia, Petechiae, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis	ORPHA:499009
Ataxia-Telangiectasia	Recurrent lower respiratory tract infections, Recurrent bronchitis, Hypoplasia of the thymus, T l...	OMIM:208900
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Diamond-Blackfan Anemia 21	Thrombocytopenia, Anemia, Erythroid hypoplasia	OMIM:620072
Down Syndrome	Leukemia, Polycythemia, Neutrophilia, Thrombocytopenia, Acute megakaryocytic leukemia	ORPHA:870
Reynolds Syndrome	Gastrointestinal hemorrhage, Anti-centromere antibody positivity, Antimitochondrial antibody posi...	OMIM:613471
Dyskeratosis Congenita	Anemia, Thrombocytopenia, Splenomegaly, Recurrent respiratory infections, Abnormality of neutrophils	ORPHA:1775
Combined Oxidative Phosphorylation Deficiency 55	Thrombocytopenia, Anemia	OMIM:619743
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple...	ORPHA:567983
Yellow Fever	Hematemesis, Prolonged prothrombin time, Abnormal bleeding, Leukocytosis, Internal hemorrhage, Ne...	ORPHA:99829
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Gaucher Disease	Abnormal bleeding, Anemia, Pancytopenia, Depression, Gingival bleeding, Splenic infarction, Splen...	ORPHA:355
Congenital Bile Acid Synthesis Defect Type 2	Prolonged prothrombin time, Extramedullary hematopoiesis	ORPHA:79303
Lathosterolosis	Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology	ORPHA:46059
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:221900
Mogs-Cdg	Thrombocytopenia, Hepatosplenomegaly	ORPHA:79330
Cardiac-Urogenital Syndrome	Prolonged bleeding time, Accessory spleen	OMIM:618280
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Gastrointestinal hemorrhage, Recurrent urinary tract infections, Cognitive impairment...	ORPHA:731
Secondary Intestinal Lymphangiectasia	Recurrent infections, Autoimmunity, Intestinal bleeding, Lymphopenia	ORPHA:90363
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Congenital Disorder Of Glycosylation, Type Iiw	Prolonged prothrombin time, Recurrent otitis media, Anemia, Thrombocytopenia, Splenomegaly, Bleed...	OMIM:619525
Infantile Liver Failure Syndrome 3	Prolonged prothrombin time, Splenomegaly	OMIM:618641
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Castleman Disease	Thrombocytopenia, Anemia, Decreased mean corpuscular volume	ORPHA:160
Classical Ehlers-Danlos Syndrome	Prolonged bleeding time, Ecchymosis, Bruising susceptibility	ORPHA:287
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Thrombocytopenia, Splenomegaly	OMIM:251880
Ogden Syndrome	Irritability, Recurrent otitis media, Iron deficiency anemia, Recurrent infections, Polycythemia,...	OMIM:300855
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Recurrent infections, Increased mean platelet volume, Thrombocytopenia	ORPHA:487796
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Prolonged prothrombin time, Hepatosplenomegaly	ORPHA:367
Paroxysmal Nocturnal Hemoglobinuria	Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or activity, Reticulocytosis, Leu...	ORPHA:447
Hardikar Syndrome	Hematemesis, Irritability, Recurrent urinary tract infections, Thrombocytopenia, Hepatosplenomega...	OMIM:301068
Cog8-Cdg	Prolonged prothrombin time, Spontaneous hematomas	ORPHA:95428
Pearson Syndrome	Anemia, Pancytopenia, Reticulocytosis, Hypoplastic spleen, Thrombocytopenia, Splenomegaly, Dyspha...	ORPHA:699
Thrombocytopenia-Absent Radius Syndrome	Anemia, Leukocytosis, Prolonged bleeding following circumcision, Thrombocytopenia, Hepatosplenome...	OMIM:274000
Jacobsen Syndrome	Recurrent respiratory infections, Thrombocytopenia	OMIM:147791
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time	OMIM:616483
Deeah Syndrome	Decreased hemoglobin concentration, Self-mutilation, Thrombocytopenia, Dysphagia	OMIM:619004
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Purpura, Depression, Hypoplasia of the thymus, Thrombocytopenia, Spl...	ORPHA:567
Oculocerebrorenal Syndrome Of Lowe	Anemia, Depression, Compulsive behaviors, Thrombocytopenia, Motor stereotypy, Attention deficit h...	ORPHA:534
Igg4-Related Dacryoadenitis And Sialadenitis	Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivity, Thrombocytopenia...	ORPHA:79078
Congenital Disorder Of Glycosylation, Type Ia	Prolonged prothrombin time, Thrombocytosis	OMIM:212065
Aicardi-Goutières Syndrome	Irritability, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hepatosplenomegal...	ORPHA:51
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal temper tantrums, Anemia, Pancytopenia, Spontaneous, recurrent epistaxis, Hepatosplenomeg...	ORPHA:2072
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Liver Disease, Severe Congenital	Irritability, Sepsis, Recurrent otitis media, Anemia, Lymphocytosis, Recurrent urinary tract infe...	OMIM:619991
S-Adenosylhomocysteine Hydrolase Deficiency	Prolonged prothrombin time, Short attention span	ORPHA:88618
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Noonan Syndrome 9	Prolonged prothrombin time	OMIM:616559
Jacobsen Syndrome	Attention deficit hyperactivity disorder, Recurrent respiratory infections, Thrombocytopenia	ORPHA:2308
Cornelia De Lange Syndrome 1	Self-injurious behavior, Thrombocytopenia	OMIM:122470
Fanconi Anemia	Anemia, Recurrent urinary tract infections, Thrombocytopenia, Leukopenia, Pyridoxine-responsive s...	ORPHA:84
Osteopetrosis With Renal Tubular Acidosis	Anemia, Pancytopenia, Elliptocytosis, Thrombocytopenia, Leukopenia	ORPHA:2785
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thrombocytopenia, Anemia, Intracranial hemorrhage	ORPHA:163979
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Thrombocytopenia, Splenomegaly, Reduced erythrocyte uroporphyrinogen III cosynt...	OMIM:263700
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Prolonged prothrombin time, Impaired oral bolus formation, Impaired oropharyngeal swallow respons...	ORPHA:404454
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Thrombocytopenia, Splenomegaly	OMIM:301072
Infection-Related Hemolytic Uremic Syndrome	Thrombocytopenia, Leukocytosis, Hemolytic anemia, Brain abscess	ORPHA:544482
Bile Acid Synthesis Defect, Congenital, 4	Prolonged prothrombin time, Hematochezia	OMIM:214950
Wilson Disease	Anemia, Thrombocytopenia, Dysphagia, Splenomegaly, Dementia, Hemolytic anemia	OMIM:277900
Dyskeratosis Congenita, X-Linked	Anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Leukopenia	OMIM:305000
Hypermethioninemia Due To Adenosine Kinase Deficiency	Prolonged prothrombin time	OMIM:614300
Exercise-Induced Malignant Hyperthermia	Confusion, Abnormal bleeding, Thrombocytopenia, Delirium	ORPHA:466650
Cushing Syndrome Due To Ectopic Acth Secretion	Anorexia, Purpura, Dementia, Decreased eosinophil count, Depression, Emotional lability, Memory i...	ORPHA:99889
Primary Sclerosing Cholangitis	Prolonged prothrombin time, Depression, Hepatosplenomegaly, Splenomegaly, Autoimmunity	ORPHA:171
Tangier Disease	Thrombocytopenia, Hepatosplenomegaly, Anemia	ORPHA:31150
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Prolonged prothrombin time, Irritability	OMIM:311250
Abetalipoproteinemia	Prolonged prothrombin time, Abnormal bleeding, Anemia, Reticulocytosis, Acanthocytosis	ORPHA:14
Congenital Disorder Of Glycosylation, Type It	Prolonged prothrombin time, Recurrent otitis media	OMIM:614921
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged prothrombin time, Confusion	ORPHA:71212
Digeorge Syndrome	Recurrent otitis media, Anemia, Recurrent infections, Hypoplasia of the thymus, Recurrent sinusit...	OMIM:188400
Monosomy 13Q34	Prolonged prothrombin time, Epistaxis, Hematochezia	ORPHA:96168
Proteasome-Associated Autoinflammatory Syndrome 1	Recurrent otitis media, Recurrent sinusitis, Thrombocytopenia, Splenomegaly, Recurrent upper resp...	OMIM:256040
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Prolonged prothrombin time, Polycythemia, Splenomegaly	ORPHA:309854
Combined Oxidative Phosphorylation Deficiency 37	Prolonged prothrombin time, Progressive neurologic deterioration	OMIM:618329
Leptospirosis	Anorexia, Retinal hemorrhage, Thrombocytopenia, Subconjunctival hemorrhage, Pulmonary hemorrhage	ORPHA:509
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time	OMIM:617049
Microphthalmia, Syndromic 2	Retinal detachment, Hypospadias, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:300166
Tyrosinemia, Type I	Prolonged prothrombin time, Gastrointestinal hemorrhage, Anemia, Melena, Splenomegaly	OMIM:276700
Osteogenesis Imperfecta	Bruising susceptibility, Thrombocytopenia, Cerebral hemorrhage, Dysphagia	ORPHA:666
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Remnants of the hyaloid vascular system	OMIM:603671
Sarcoidosis	Anemia, Increased T cell count, Leukopenia, Thrombocytopenia, Eosinophilia, Hemolytic anemia	ORPHA:797
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Anemia, Hepatosplenom...	ORPHA:247598
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Isolated Biliary Atresia	Prolonged prothrombin time, Splenomegaly	ORPHA:30391
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Prolonged prothrombin time, Intraventricular hemorrhage	OMIM:619055
Holoprosencephaly 2	Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170
Neuroocular Syndrome	Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:619539
Noonan Syndrome 1	Bruising susceptibility, Juvenile myelomonocytic leukemia, Abnormal bleeding, Amegakaryocytic thr...	OMIM:163950
Norrie Disease	Optic atrophy, Retinal detachment, Remnants of the hyaloid vascular system	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 21.0 Data