Gene: Bcl2l1 MGI:88139

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

BCL2-like 1

Synonyms:

Bcl(X)L, Bcl-Xs, bcl-x, Bcl-XL, BclX

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Bcl2l1 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 Bcl2l1 (0 diseases)
Human diseases predicted to be associated with Bcl2l1 (719 diseases)

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

The table below shows human diseases predicted to be associated to Bcl2l1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Thrombocytopenia 7	Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel...	OMIM:619130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly	ORPHA:231393
Pseudo-Von Willebrand Disease	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Athrombia, Essential	Impaired platelet adhesion, Impaired platelet aggregation, Prolonged bleeding time	OMIM:209050
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr...	OMIM:187950
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Platelet Signal Processing Defect	Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced platelet aggregation...	OMIM:173590
Thrombocytopenic Purpura, Autoimmune	Thrombocytopenia	OMIM:188030
Bleeding Disorder, Platelet-Type, 24	Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati...	OMIM:619271
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Spermatogenic Failure 57	Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i...	OMIM:619528
Partial Chromosome Y Deletion	Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma...	ORPHA:1646
Spermatogenic Failure 25	Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc...	OMIM:617960
Spermatogenic Failure 32	Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility	OMIM:619831
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Spermatogenic Failure 63	Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility	OMIM:619689
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp...	OMIM:618341
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia, Prolonged bleeding time	OMIM:608404
Spermatogenic Failure 50	Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility	OMIM:619145
Isochromosomy Yp	Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ...	ORPHA:98797
Spermatogenic Failure 20	Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella	OMIM:617593
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia	OMIM:124900
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Immunodeficiency 24	Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level...	OMIM:615897
Thrombocytopenia 2	Thrombocytopenia, Leukocytosis	OMIM:188000
Bleeding Disorder, Platelet-Type, 16	Macrothrombocytopenia, Anemia, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility	OMIM:618110
Spermatogenic Failure 72	Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel...	OMIM:619867
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp...	OMIM:618153
Glanzmann Thrombasthenia 2	Decreased platelet glycoprotein IIb-IIIa, Impaired ristocetin-induced platelet aggregation, Impai...	OMIM:619267
Spermatogenic Failure 37	Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella...	OMIM:617576
Spermatogenic Failure 33	Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella...	OMIM:618152
Spermatogenic Failure 46	Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp...	OMIM:617965
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe...	OMIM:617592
Spermatogenic Failure 49	Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe...	OMIM:619094
Amegakaryocytic Thrombocytopenia, Congenital	Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619672
Spermatogenic Failure 73	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619878
Spermatogenic Failure 59	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619645
Spermatogenic Failure 60	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619646
Spermatogenic Failure 74	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619937
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe...	ORPHA:529970
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly...	OMIM:301059
Isochromosomy Yq	Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp...	ORPHA:98798
Spermatogenic Failure 65	Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla...	OMIM:619712
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil...	OMIM:618664
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli...	OMIM:620084
Spermatogenic Failure 56	Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla...	OMIM:619515
Spermatogenic Failure 1	Male infertility, Oligospermia, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 78	Microcephalic sperm head, Male infertility, Tapered sperm head	OMIM:620170
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia	OMIM:619102
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 58	Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper...	OMIM:619585
Spermatogenic Failure 79	Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia	OMIM:620196
Spermatogenic Failure 48	Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility	OMIM:619108
Spermatogenic Failure 54	Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone...	OMIM:619379
Spermatogenic Failure 11	Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility	OMIM:614822
Spermatogenic Failure 22	Non-obstructive azoospermia, Male infertility, Cryptozoospermia	OMIM:617706
Spermatogenic Failure 39	Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit...	OMIM:618643
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Extramedullary hematopoiesis, Anemia, Increased circulating antibody level, Thrombocy...	OMIM:615285
Spermatogenic Failure 42	Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal...	OMIM:618745
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia	OMIM:612997
Spermatogenic Failure 41	Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia	OMIM:618670
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 5	Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility	OMIM:243060
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure, X-Linked, 2	Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility	OMIM:309120
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligospermia	OMIM:619828
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility	OMIM:261550
Spermatogenic Failure 16	Acephalic spermatozoa, Reduced sperm motility, Male infertility	OMIM:617187
Spermatogenic Failure 44	Acephalic spermatozoa, Reduced sperm motility, Male infertility	OMIM:619044
Spermatogenic Failure 21	Acephalic spermatozoa, Reduced sperm motility, Male infertility	OMIM:617644
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility	OMIM:619696
Reticular Dysgenesis	Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct...	OMIM:267500
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation	OMIM:618462
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis	OMIM:615193
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time	OMIM:173420
Glanzmann Thrombasthenia 1	Impaired ristocetin-induced platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Impai...	OMIM:273800
Deafness-Infertility Syndrome	Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma...	OMIM:611102
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level, Autoimmunity	OMIM:609529
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Spermatogenic Failure 3	Reduced sperm motility, Male infertility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Reduced sperm motility, Male infertility	OMIM:400042
Spermatogenic Failure 55	Reduced sperm motility, Male infertility	OMIM:619380
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ...	OMIM:601859
Bleeding Disorder, Platelet-Type, 11	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:614201
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Eosinophilia, Familial	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	OMIM:131400
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Spermatogenic Failure 12	Infertility, Abnormal male germ cell morphology, Azoospermia	OMIM:615413
Ataxia-Pancytopenia Syndrome	Abnormal macrophage morphology, Abnormal platelet function, Abnormality of neutrophils, Hypoplast...	ORPHA:2585
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ...	ORPHA:488191
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Immunodeficiency 11	Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu...	OMIM:615206
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Antinuclear antibody positivity	OMIM:613495
Bleeding Disorder, Platelet-Type, 18	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Pro...	OMIM:615888
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impair...	OMIM:155100
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Anemia, Sideroblastic, 5	Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia	OMIM:619523
Hypogonadism, Male	Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias	OMIM:241100
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Spinocerebellar Ataxia Type 32	Azoospermia, Testicular atrophy, Male infertility	ORPHA:276183
Erythroleukemia, Familial, Susceptibility To	Anemia, Leukemia, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myeloid leukemia	OMIM:133180
Spermatogenic Failure 38	Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo...	OMIM:618433
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia	OMIM:616176
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, R...	OMIM:614493
Cernunnos-Xlf Deficiency	Autoimmunity, Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating ant...	ORPHA:169079
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Anemia	OMIM:615715
Spinocerebellar Ataxia 32	Infertility, Azoospermia, Testicular atrophy	OMIM:613909
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Abnormal reticulocyte morphology, Macr...	OMIM:300835
Immunodeficiency 105	Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt...	OMIM:619924
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Leukopenia, Abnormal platelet aggregation	OMIM:614171
Ring Chromosome Y Syndrome	Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m...	ORPHA:261529
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmunity...	OMIM:617006
Spermatogenic Failure 77	Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll...	OMIM:620103
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Thrombocytopenia, Increased mean platelet volume, Impaired ADP-ind...	OMIM:617443
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi...	OMIM:314050
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Autoimmunity, Increased circulating IgE level, Lymphopenia, B lymphocytopenia, Lack of T cell fun...	ORPHA:277
Immunodeficiency 64 With Lymphoproliferation	Increased circulating IgA level, Hepatosplenomegaly, Autoimmune thrombocytopenia, Increased propo...	OMIM:618534
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Bone marrow hypocellularity, Neutropenia, Increased mean corpuscular volume, Thrombocytop...	OMIM:619041
Immunodeficiency 25	Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve...	OMIM:610163
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,...	OMIM:108420
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Spermatogenic Failure 6	Globozoospermia, Decreased acrosin in sperm head, Male infertility	OMIM:102530
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob...	OMIM:616950
46,Xx Testicular Difference Of Sex Development	Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia	ORPHA:393
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Thrombocytopenia, Anemia	ORPHA:3319
Glanzmann Thrombasthenia	Impaired thrombin-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	ORPHA:849
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level	OMIM:247800
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute monocytic leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Thromboc...	OMIM:601399
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Caspase 8 Deficiency	Decreased circulating total IgM, Decreased CD4:CD8 ratio, Complete or near-complete absence of sp...	OMIM:607271
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased proportion of class-switched memory B cells, Decreased circulating IgG2 level, Increase...	OMIM:615513
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 28	Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi...	OMIM:618086
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Isolated Follicle Stimulating Hormone Deficiency	Oligomenorrhea, Abnormal sperm morphology, Delayed puberty, Decreased testicular size, Testicular...	ORPHA:52901
Tn Polyagglutination Syndrome	Autoimmunity, Abnormal erythrocyte morphology	OMIM:300622
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty	ORPHA:3000
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Familial Hyperprolactinemia	Oligomenorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea, Hemorrhagic ovarian cyst	ORPHA:397685
Bernard-Soulier Syndrome	Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets, Thrombo...	OMIM:231200
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased specific anti-polysaccharide antibody level, Autoimmune thromb...	OMIM:300853
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased proportion of HLA DR+ T cells, Rheumatoid factor positive, Increased circulating IgM le...	OMIM:603909
Testicular Regression Syndrome	Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig...	ORPHA:983
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Thrombocytopenia, ...	ORPHA:859
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Immunodeficiency 81	Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs...	OMIM:619374
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired thromboxane A2 agonist-induced platelet aggregation	OMIM:614009
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes	ORPHA:721
Quebec Platelet Disorder	Impaired epinephrine-induced platelet aggregation, Thrombocytopenia	OMIM:601709
Kennedy Disease	Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy	ORPHA:481
Ras-Associated Autoimmune Leukoproliferative Disorder	Decreased lymphocyte apoptosis, Autoimmunity, Increased circulating antibody level, Hemolytic ane...	OMIM:614470
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Decreased circulating IgA level, Decreased circulating Ig...	OMIM:606843
Fanconi Anemia, Complementation Group G	Leukemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:614082
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Autoimmunity	OMIM:137100
Thrombocytopenia, Anemia, And Myelofibrosis	Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia	OMIM:617441
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit...	OMIM:300400
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced plate...	OMIM:139090
Leukocyte Adhesion Deficiency, Type Iii	Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Splenomegaly, Abnormality...	OMIM:612840
Alpha-Thalassemia-Myelodysplastic Syndrome	HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia	ORPHA:231401
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc...	OMIM:617241
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Oligospermia, Obstructive azoospermia, Male infertility	ORPHA:48
Sea-Blue Histiocyte Disease	Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis	OMIM:269600
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Primary Myelofibrosis	Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Pancyto...	ORPHA:824
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Androgen Insensitivity Syndrome	Delayed puberty, Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Abnormal morphology of...	ORPHA:754
Bleeding Disorder, Platelet-Type, 17	Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Absence of alpha granul...	OMIM:187900
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut...	OMIM:616216
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo...	OMIM:607594
Insulin Autoimmune Syndrome	Autoimmune antibody positivity, Autoimmunity, Systemic lupus erythematosus, Increased circulating...	ORPHA:411593
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis	OMIM:607624
Spermatogenic Failure 14	Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating...	OMIM:615842
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ristocetin-induced platelet aggregation, Hemolytic anemia, Stomatocytosis, Thrombocytope...	OMIM:153670
Fanconi Anemia, Complementation Group T	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia, Acute myeloid leukemia	OMIM:616435
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia, Prolonged bleeding time	OMIM:188025
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Th...	OMIM:617021
Acquired Idiopathic Sideroblastic Anemia	Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ...	ORPHA:75564
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo...	ORPHA:67044
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Azoospermia, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Azoospermia, Male infertility	OMIM:277180
Slc35A1-Cdg	Abnormal platelet granules, Giant platelets, Thrombocytopenia, Prolonged bleeding time, Neutropenia	ORPHA:238459
Immunodeficiency, Common Variable, 2	Autoimmunity, Decreased circulating IgA level, Impaired T cell function, Decreased circulating Ig...	OMIM:240500
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn...	ORPHA:521
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ...	OMIM:619846
Polycythemia Vera	Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit...	OMIM:263300
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Ataxia-Pancytopenia Syndrome	Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro...	OMIM:159550
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating IgA level, Hepatosplenomegaly, Increased circulating antibody level, Decrea...	ORPHA:169154
Malaria	Thrombocytopenia, Anemia	ORPHA:673
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time	OMIM:277480
Immunodeficiency 46	Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia, Anemia	OMIM:616740
Osteopetrosis, Autosomal Recessive 2	Hepatosplenomegaly, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Pancytopenia	OMIM:259710
Immunodeficiency 102	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ...	OMIM:301082
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmunity, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphop...	ORPHA:444463
Bleeding Disorder, Platelet-Type, 8	Impaired ADP-induced platelet aggregation	OMIM:609821
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Immunodeficiency 89 And Autoimmunity	Increased circulating IgA level, Increased circulating IgE level, Rheumatoid factor positive, Red...	OMIM:619632
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia	OMIM:617243
Spermatogenic Failure, X-Linked, 4	Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M...	OMIM:301077
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia	OMIM:603585
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Anemia	OMIM:619302
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatosplenomegaly, Decreased circulating total IgM, Abnormal B cell count, Autoimmunity, Decreas...	ORPHA:331206
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Eosinophilia...	OMIM:202700
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia	OMIM:616738
Bone Marrow Failure Syndrome 4	Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Decreased circulating antibody...	OMIM:618116
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou...	OMIM:618108
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig...	OMIM:619510
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hepatosplenomegaly, Hemophagocytosis, Anemia, Abnormal natural killer cell physiology, Thrombocyt...	OMIM:613101
Partial Androgen Insensitivity Syndrome	Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer...	ORPHA:90797
Niemann-Pick Disease, Type B	Anemia, Bone-marrow foam cells, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:607616
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Abnormal...	OMIM:600802
Ghosal Hematodiaphyseal Dysplasia	Thrombocytopenia, Bone marrow hypocellularity, Refractory anemia, Leukopenia	OMIM:231095
Immunodeficiency 36 With Lymphoproliferation	Decreased proportion of naive CD8 T cells, Autoimmunity, Chronic lymphatic leukemia, Decreased ci...	OMIM:616005
Nephrotic Syndrome, Type 7	Thrombocytopenia, Hemolytic anemia	OMIM:615008
Hermansky-Pudlak Syndrome 3	Impaired platelet aggregation, Abnormal number of dense granules	OMIM:614072
Immunodeficiency By Defective Expression Of Mhc Class Ii	Neutropenia in presence of anti-neutropil antibodies, Autoimmunity, Autoimmune thrombocytopenia, ...	ORPHA:572
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Premature Ovarian Failure 5	Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Reduced antral foll...	OMIM:611548
Complete Androgen Insensitivity Syndrome	Delayed puberty, Aplasia/Hypoplasia of the fallopian tube, Increased serum testosterone level, Ab...	ORPHA:99429
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia	OMIM:603552
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:229050
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati...	ORPHA:251510
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	OMIM:611926
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Aicardi-Goutieres Syndrome 6	Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Thrombocytopenia, Splenomegaly, Anemia	OMIM:610539
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia	OMIM:601457
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia	OMIM:598500
Immunodeficiency 70	Decreased circulating total IgM, Decreased circulating total IgA, Decreased circulating total IgG...	OMIM:618969
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Wt Limb-Blood Syndrome	Leukemia, Thrombocytopenia, Pancytopenia, Hypoplastic anemia	OMIM:194350
46,Xx Ovotesticular Difference Of Sex Development	Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic...	ORPHA:2138
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Bone marrow hypocellularity, Refractory anemia, Systemic lupus erythematosus, Monocyt...	OMIM:616871
Sitosterolemia 1	Episodic hemolytic anemia, Reticulocytosis, Anemia, Giant platelets, Stomatocytosis, Thrombocytop...	OMIM:210250
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Autoimmunity, Autoimmune hemolytic anemia, ...	ORPHA:231154
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmunity, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Increased circulating IgG lev...	OMIM:618495
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatosplenomegaly, Absent isohemagglutinin level, Decreased proportion of memory B cells, Decrea...	OMIM:615559
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Hereditary Spherocytosis	Reticulocytosis, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin concentratio...	ORPHA:822
Idiopathic Aplastic Anemia	Anemia, Bone marrow hypocellularity, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia	ORPHA:88
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc...	ORPHA:90793
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Leukocytosis, Autoimmunity, Acute myeloid leukemia	ORPHA:98827
Lymphoproliferative Syndrome 1	Autoimmunity, Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Throm...	OMIM:613011
Hermansky-Pudlak Syndrome 5	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Prolonged bleeding time, Absent plat...	OMIM:614074
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Hepatosplenomegaly, Leukopenia, Partial absence of specific antibody response to Haemophilus infl...	OMIM:618986
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Autoimmunity, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocyt...	OMIM:617780
Myh9-Related Disease	Congenital thrombocytopenia, Giant platelets, Increased mean platelet volume, Neutrophil inclusio...	ORPHA:182050
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ...	OMIM:308700
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia, Agammaglobulinemia	OMIM:619693
Isovaleric Acidemia	Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia, Leukopenia	OMIM:243500
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Lymphopenia, Hemolytic anemia	OMIM:616744
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Systemic Lupus Erythematosus 17	Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Leukopenia	OMIM:301080
Immunodeficiency 96	Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Decreased circulati...	OMIM:619774
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Splenomegaly, Anemia	OMIM:615085
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Reduced natural killer cell activity, Increased circulating Ig...	OMIM:308240
Amed Syndrome, Digenic	Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Acute myeloid leukemia	OMIM:619151
Bleeding Disorder, Platelet-Type, 12	Impaired platelet aggregation	OMIM:605735
Beta-Thalassemia Intermedia	Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume...	ORPHA:231222
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt...	ORPHA:35078
Immunodeficiency 66	Defective T cell proliferation	OMIM:618847
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Spherocytosis, Type 5	Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, Spherocytos...	OMIM:612690
Immunodeficiency 32B	Impaired oxidative burst, Anemia, Abnormal circulating IgG level, Eosinophilia, Thrombocytopenia,...	OMIM:226990
Bernard-Soulier Syndrome	Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce...	ORPHA:274
T-Cell Immunodeficiency With Thymic Aplasia	Hepatosplenomegaly, Lymphopenia, Reduced delayed hypersensitivity, Abnormally low T cell receptor...	OMIM:242700
Aromatase Deficiency	Female pseudohermaphroditism, Ovarian cyst, Primary amenorrhea, Hypergonadotropic hypogonadism	OMIM:613546
Subcorneal Pustular Dermatosis	Autoimmunity, Systemic lupus erythematosus, Increased circulating antibody level, Rheumatoid arth...	ORPHA:48377
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Kallmann Syndrome With Spastic Paraplegia	Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon...	OMIM:308750
Congenital Bile Acid Synthesis Defect Type 2	Prolonged prothrombin time, Extramedullary hematopoiesis	ORPHA:79303
Gonadoblastoma	Dysgerminoma, Increased serum testosterone level, Ambiguous genitalia, Gonadal dysgenesis with fe...	ORPHA:206484
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Androgen Insensitivity, Partial	Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ...	OMIM:312300
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Autoimmunity, Hashimoto thyroiditis, Decreased proportion of CD3-positive T cells, Juvenile rheum...	ORPHA:275
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Coiled sperm flagella, Male infertility, Short sperm flagella	OMIM:620197
Immunodeficiency, Common Variable, 12, With Autoimmunity	Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia	OMIM:616576
Thrombotic Thrombocytopenic Purpura	Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Osteopetrosis, Autosomal Recessive 4	Thrombocytopenia, Reticulocytosis, Splenomegaly, Anemia	OMIM:611490
Storage Pool Platelet Disease	Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Transaldolase Deficiency	Hepatosplenomegaly, Thrombocytopenia, Anemia	ORPHA:101028
Immunodeficiency 22	Decreased circulating total IgM, Autoimmunity, Anemia, Abscess, Decreased circulating IgA level, ...	OMIM:615758
Gaucher Disease, Type Iii	Thrombocytopenia, Pancytopenia, Splenomegaly	OMIM:231000
Immunodeficiency With Hyper-Igm, Type 1	Increased circulating IgA level, Impaired Ig class switch recombination, Hemolytic anemia, Decrea...	OMIM:308230
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, Splenomegaly	OMIM:610333
Leishmaniasis	Abnormal macrophage morphology, Leukopenia, Increased circulating antibody level, Anemia, Thrombo...	ORPHA:507
Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia, Thrombocytopenia, Splenomegaly	ORPHA:848
Osteopetrosis, Autosomal Recessive 5	Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Pancyto...	OMIM:259720
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Increased size of the clitoris, Primary amenorrhea, Abnormality of the ovary,...	ORPHA:2975
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, B lymphocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia	OMIM:150550
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti...	OMIM:617091
Dominant Beta-Thalassemia	Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume...	ORPHA:231226
Deafness-Lymphedema-Leukemia Syndrome	Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Thrombocytopenia, Acute l...	ORPHA:3226
Autoinflammation With Infantile Enterocolitis	Anemia, Reduced natural killer cell count, Reduced natural killer cell activity, Thrombocytopenia...	OMIM:616050
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Hemolytic anemia	OMIM:152700
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia	ORPHA:217390
Beta-Thalassemia Major	Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular...	ORPHA:231214
Immunodeficiency 19	Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia	OMIM:615617
Immunodeficiency 97 With Autoinflammation	Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased circulating t...	OMIM:619802
Fowler Urethral Sphincter Dysfunction Syndrome	Oligomenorrhea, Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Amenorrhea	ORPHA:2795
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Hemochromatosis, Type 1	Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Hypogonadotropic hypogonadism, Ame...	OMIM:235200
Congenital Toxoplasmosis	Thrombocytopenia, Anemia	ORPHA:858
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia	OMIM:614727
Osteopetrosis, Autosomal Recessive 3	Hepatosplenomegaly, Extramedullary hematopoiesis, Anemia	OMIM:259730
Igg4-Related Aortitis	Hypereosinophilia, Cytoplasmic antineutrophil antibody positivity, Increased circulating IgG4 lev...	ORPHA:449400
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia	OMIM:613987
Pgm3-Cdg	Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Autoimmuni...	ORPHA:443811
Babesiosis	Thrombocytopenia, Leukopenia, Hemolytic anemia, Splenomegaly	ORPHA:108
Hermansky-Pudlak Syndrome 7	Impaired platelet aggregation, Prolonged bleeding time	OMIM:614076
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Tufted Angioma	Thrombocytopenia, Anemia	ORPHA:1063
Noonan Syndrome 12	Thrombocytopenia, Lymphopenia	OMIM:618624
Vitamin B12-Unresponsive Methylmalonic Acidemia	Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia	ORPHA:27
Imerslund-Gräsbeck Syndrome	Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy...	ORPHA:35858
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly...	OMIM:616689
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Increased circulating IgA level, Increased CD4:CD8 ratio,...	OMIM:618048
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Thrombocytopenia, B l...	OMIM:301078
47,Xyy Syndrome	Increased serum testosterone level, Cryptorchidism, Micropenis, Varicocele, Azoospermia, Increase...	ORPHA:8
Wiskott-Aldrich Syndrome	Hypoplasia of the thymus, Hemolytic anemia, Anemia, Abnormal platelet function, Lymphopenia, Micr...	ORPHA:906
Ovarian Fibrothecoma	Increased serum testosterone level, Abnormal endometrium morphology, Abnormality of the ovary, Go...	ORPHA:314478
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Abnormality of B cell physiology, Pure red ...	OMIM:613179
Isolated Agammaglobulinemia	Abnormality of neutrophils, Thrombocytopenia, Abnormal lymphocyte morphology, Anemia	ORPHA:229717
Immunodeficiency 13	Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel...	OMIM:615518
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ...	ORPHA:158057
Hermansky-Pudlak Syndrome 6	Impaired ADP-induced platelet aggregation, Abnormal platelet granules, Prolonged bleeding time	OMIM:614075
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Thrombocytopenia, Neutropenia, Splenomegaly, Anemia	ORPHA:79312
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Gamma-Heavy Chain Disease	Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology,...	ORPHA:100026
Sea-Blue Histiocytosis	Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis	ORPHA:158029
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Thrombocytopenia 1	Increased circulating IgA level, Intermittent thrombocytopenia, Increased circulating IgE level, ...	OMIM:313900
Immunodeficiency 76	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly	OMIM:619164
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hepatosplenomegaly, Decreased specific anti-polysaccharide antibody level, Hemolytic anemia, Decr...	OMIM:606367
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia	OMIM:613839
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Immunodeficiency 104	Splenomegaly, T lymphocytopenia	OMIM:608971
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Immunodeficiency 17	Autoimmune hemolytic anemia, Chronic decreased cirulating IgG2, Abnormal B cell morphology, Decre...	OMIM:615607
Atelis Syndrome 1	Thrombocytopenia, Leukopenia, Anemia	OMIM:620184
Immunodeficiency 10	Thrombocytopenia, Autoimmune hemolytic anemia	OMIM:612783
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic...	OMIM:619313
X-Linked Lymphoproliferative Disease	Autoimmunity, Hemophagocytosis, Histiocytosis, Increased circulating IgM level, B lymphocytopenia...	ORPHA:2442
Specific Granule Deficiency 2	Neutropenia, Thrombocytopenia, Absent neutrophil specific granules, Anemia	OMIM:617475
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Autoimmune thrombocytopenia, Increased circulating IgE level, Neutropenia, Eosinophilia, ...	OMIM:304790
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Hepatosplenomegaly, Hemophagocytosis, Anemia, Abnormal platelet function,...	ORPHA:167
Macrophage Activation Syndrome	Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat...	ORPHA:158061
Classic Galactosemia	Oligomenorrhea, Delayed puberty, Premature ovarian insufficiency, Decreased fertility in females,...	ORPHA:79239
Aregenerative Anemia	Bone marrow hypocellularity, Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thro...	ORPHA:101096
Autoimmune Lymphoproliferative Syndrome	Autoimmunity, Decreased specific anti-polysaccharide antibody level, Rheumatoid factor positive, ...	ORPHA:3261
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Thrombo...	ORPHA:324636
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Preeclampsia	Thrombocytopenia	ORPHA:275555
Rhabdoid Tumor	Thrombocytopenia, Anemia	ORPHA:69077
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Hepatosplenomegaly, Bone marrow hypocellularity, Thrombocytopenia	ORPHA:210136
Hereditary Folate Malabsorption	Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia, Decreased circulating antibod...	ORPHA:90045
Aromatase Deficiency	Cryptorchidism, Primary amenorrhea, Hypergonadotropic hypogonadism, Female infertility, Type II d...	ORPHA:91
Tetragametic Chimerism	Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, Gonadal dysgenesis with fe...	ORPHA:199310
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Immotile sperm, Male infertility, Absent inner dynein arms	OMIM:614874
Letterer-Siwe Disease	Hepatosplenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:246400
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Refractory Anemia With Excess Blasts	Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Anemia of inadequate...	ORPHA:86839
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372
Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope...	OMIM:169400
Hermansky-Pudlak Syndrome 2	Hepatosplenomegaly, Decreased CD4:CD8 ratio, Reduced natural killer cell count, Reduced natural k...	OMIM:608233
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Hermansky-Pudlak Syndrome 11	Reduced platelet dense granules, Impaired collagen-induced platelet aggregation	OMIM:619172
Relapsing Fever	Prolonged prothrombin time, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Neutrophilia	ORPHA:91547
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Intermediate Osteopetrosis	Hepatosplenomegaly, Thrombocytopenia, Anemia	ORPHA:210110
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia	OMIM:605432
Omenn Syndrome	Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Eosinophilia, Thrombocytopenia, B lym...	OMIM:603554
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Thrombocytopen...	ORPHA:98850
Ciliary Dyskinesia, Primary, 9	Absent outer dynein arms, Male infertility	OMIM:612444
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy, Hypogonadism	OMIM:160900
Orotic Aciduria	Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi...	OMIM:258900
Congenital Rubella Syndrome	Thrombocytopenia, Splenomegaly, Anemia	ORPHA:290
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Fetal Gaucher Disease	Thrombocytopenia, Pancytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Neonatal Lupus Erythematosus	Aplastic anemia, Hemolytic anemia, Anemia, Thrombocytopenia, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:398124
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a...	OMIM:613807
Tularemia	Thrombocytopenia, Leukocytosis, Increased circulating antibody level, Anemia	ORPHA:3392
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Von Willebrand Disease, Type 1	Impaired platelet aggregation, Prolonged bleeding time	OMIM:193400
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia	OMIM:614520
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Decreased circulating IgA level, Reduced natural killer cell count, Increased ...	OMIM:242860
Acquired Purpura Fulminans	Prolonged prothrombin time, Thrombocytopenia	ORPHA:49566
Wiskott-Aldrich Syndrome	Increased circulating IgA level, Decreased circulating total IgM, Impaired lymphocyte transformat...	OMIM:301000
Portal Hypertension, Noncirrhotic, 2	Thrombocytopenia, Splenomegaly	OMIM:619463
Griscelli Syndrome	Leukopenia, Abnormality of neutrophils, Bone marrow hypocellularity, Thrombocytopenia, Decreased ...	ORPHA:381
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility	ORPHA:2239
Fgfr2-Related Bent Bone Dysplasia	Hepatosplenomegaly, Extramedullary hematopoiesis	ORPHA:313855
Roifman Syndrome	Hepatosplenomegaly, Decreased T cell activation, Decreased circulating antibody level, Eosinophilia	ORPHA:353298
Immunodeficiency 40	Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, Thrombocytopenia, T lympho...	OMIM:616433
Bare Lymphocyte Syndrome, Type Ii	Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia, Agammaglobulinemia	OMIM:209920
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Hepatoportal Sclerosis	Prolonged prothrombin time, Leukopenia, Anemia, Hypersplenism, Thrombocytopenia, Splenomegaly	ORPHA:64743
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
T-Cell Immunodeficiency With Thymic Aplasia	Autoimmunity, Oligoclonal T cell expansion, Coombs-positive hemolytic anemia, Decreased proportio...	ORPHA:83471
Gaucher Disease, Type I	Anemia, Hypersplenism, Thrombocytopenia, Pancytopenia, Splenomegaly	OMIM:230800
Boutonneuse Fever	Increased circulating IgG level, Thrombocytopenia, Leukopenia, Increased circulating IgM level	ORPHA:83313
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral crypto...	ORPHA:1772
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:614700
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Thrombocytopenia, Pancytopenia, Leukopenia, Anemia	OMIM:613845
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatosplenomegaly, Decreased proportion of memory B cells, Abnormal circulating interferon-gamma...	ORPHA:79124
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Anemia	ORPHA:231111
Symptomatic Form Of Hfe-Related Hemochromatosis	Testicular atrophy, Diabetes mellitus, Infertility, Erectile dysfunction, Hypothyroidism, Amenorr...	ORPHA:465508
Propionic Acidemia	Thrombocytopenia, Neutropenia, Pancytopenia, Anemia	OMIM:606054
Schimke Immuno-Osseous Dysplasia	Decreased proportion of naive CD8 T cells, Autoimmunity, Anemia, Bone marrow hypocellularity, Lym...	ORPHA:1830
Immunodeficiency 91 And Hyperinflammation	Hepatosplenomegaly, Hemophagocytosis, Thrombocytopenia, Neutrophilia, Monocytosis	OMIM:619644
Stormorken Syndrome	Hypoplastic spleen, Asplenia, Anemia, Thrombocytopenia, Howell-Jolly bodies	OMIM:185070
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Neutropenia, Normochromic anemia	OMIM:614857
Cog4-Cdg	Hepatosplenomegaly, Thrombocytopenia	ORPHA:263501
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:66628
Systemic Mastocytosis With Associated Hematologic Neoplasm	Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono...	ORPHA:98849
Kasabach-Merritt Syndrome	Prolonged prothrombin time, Reticulocytosis, Microangiopathic hemolytic anemia, Leukopenia, Anemi...	ORPHA:2330
X-Linked Agammaglobulinemia	Thrombocytopenia, Neutropenia, Agammaglobulinemia, Anemia	ORPHA:47
Felty Syndrome	Anemia, Bone marrow hypocellularity, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega...	ORPHA:47612
Pseudo-Torch Syndrome 3	Congenital thrombocytopenia, Leukocytosis, Anemia	OMIM:618886
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Bone marrow hypocellularity, Thrombocytopenia, Anemia	ORPHA:3322
Wolfram Syndrome 1	Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatosplenomegaly, Prolonged prothrombin time, Leukopenia, Hemophagocytosis, Anemia, Reduced nat...	OMIM:603553
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:179494
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia, Neutrop...	OMIM:613989
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Neutropenia, Pancytopenia, Anemia	OMIM:251110
Thrombotic Thrombocytopenic Purpura, Hereditary	Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia, Schistocytosis	OMIM:274150
Acute Promyelocytic Leukemia	Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Neutropenia	ORPHA:520
Prolidase Deficiency	Thrombocytopenia, Splenomegaly, Increased circulating antibody level, Anemia	OMIM:170100
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Neutropenia	ORPHA:292
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Thrombocytopenia, Pancytopenia, Splenomegaly	OMIM:606003
Hemophagocytic Lymphohistiocytosis, Familial, 1	Prolonged prothrombin time, Leukopenia, Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly	OMIM:267700
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:90060
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Anemia	OMIM:608104
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Leukocytosis, Hypochromic anemia, Increased circulating IgE level, Increased circulating IgG leve...	OMIM:618213
Good Syndrome	Abnormal leukocyte morphology, Decreased circulating antibody level, Thrombocytopenia, Anemia	ORPHA:169105
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Thrombocytopenia...	OMIM:614576
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Thrombocytopenia, Leukopenia, Neutropenia	OMIM:251000
Tarp Syndrome	Extramedullary hematopoiesis	ORPHA:2886
Immunodeficiency 68	Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia	OMIM:612260
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	ORPHA:79242
Dengue Fever	Thrombocytopenia, Leukopenia	ORPHA:99828
Chediak-Higashi Syndrome	Giant neutrophil granules, Leukopenia, Hemophagocytosis, Anemia, Impaired neutrophil bactericidal...	OMIM:214500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia, Schistocytosis	OMIM:235400
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Anemia, Reduced natural killer cell activity, Thrombocytopenia, Decreased circu...	ORPHA:540
Agammaglobulinemia, X-Linked	Decreased circulating total IgM, Anemia, Neutropenia, Decreased circulating IgA level, Decreased ...	OMIM:300755
Zika Virus Disease	Thrombocytopenia, Increased circulating IgM level	ORPHA:448237
Gaucher Disease Type 1	Leukopenia, Increased circulating antibody level, Anemia, Hypersplenism, Thrombocytopenia, Pancyt...	ORPHA:77259
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Osteopetrosis, Autosomal Recessive 1	Thrombocytopenia, Pancytopenia, Anemia, Splenomegaly	OMIM:259700
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Cyclic Neutropenia	Decreased eosinophil count, Thrombocytopenia, Lymphopenia, Cyclic neutropenia	ORPHA:2686
Dyskeratosis Congenita, Autosomal Dominant 1	Leukopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity, Lymphopenia, Increased mean cor...	OMIM:127550
Aarskog-Scott Syndrome

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