Gene: Rad50 MGI:109292

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

RAD50 double strand break repair protein

Synonyms:

Mrell, Rad50l

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 Rad50 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 Rad50 (2 diseases)
Human diseases predicted to be associated with Rad50 (1552 diseases)

The table below shows human diseases associated to Rad50 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hereditary Breast And Ovarian Cancer Syndrome		Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Primary ...	ORPHA:145
Nijmegen Breakage Syndrome-Like Disorder			OMIM:613078

The table below shows human diseases predicted to be associated to Rad50 by phenotypic similarity.

Disease	Matching phenotypes	Source
Diamond-Blackfan Anemia 19	Steroid-responsive anemia, Anemia, Erythroid hypoplasia	OMIM:618312
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Acute Erythroid Leukemia	Bone marrow hypercellularity, Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocel...	ORPHA:318
Amegakaryocytic Thrombocytopenia, Congenital	Megakaryocytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Myelodysplasia, Megakaryocyte dysplasia, Pancytop...	OMIM:619041
Immunodeficiency 16	Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Abnormal megakaryocyte morphology, Hyposegmentation of neutrophi...	ORPHA:75564
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Refractory anemia with ringed sideroblasts, Splenomegaly, Anemia, Thrombocytopenia,...	OMIM:133180
Methemoglobin Reductase Deficiency	Abnormal erythrocyte morphology	OMIM:250700
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Thrombocytopenia 2	Increased megakaryocyte colony forming unit count, Thrombocytopenia, Leukocytosis	OMIM:188000
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase level	OMIM:615909
Bone Marrow Failure Syndrome 1	Bone marrow hypocellularity, Myelodysplasia, Aplastic anemia, Pancytopenia	OMIM:614675
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Monocytosis, Autoimmune ...	OMIM:614470
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia	OMIM:616435
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin...	OMIM:153600
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Hydrocephalus With Cerebellar Agenesis	Hydrocephalus	OMIM:307010
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia	OMIM:616873
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto...	OMIM:159550
Thrombocytopenic Purpura, Autoimmune	Thrombocytopenia	OMIM:188030
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox...	OMIM:206000
Anemia, Hypochromic Microcytic, With Iron Overload 1	Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:206100
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Granulocytic hypoplasia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Spermatogenic Failure, X-Linked, 2	Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Myeloproliferative Syndrome, Transient	Transient myeloproliferative syndrome, Leukocytosis	OMIM:159595
Hypogonadism, Male	Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis	OMIM:241100
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Immunodeficiency 21	Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Myelodys...	OMIM:614172
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
Spinocerebellar Ataxia Type 32	Azoospermia, Testicular atrophy, Male infertility	ORPHA:276183
Hemochromatosis, Type 1	Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonad...	OMIM:235200
Bone Marrow Failure Syndrome 5	Anemia, Testicular atrophy, Pure red cell aplasia, Hypogonadism	OMIM:618165
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A...	ORPHA:231401
Fanconi Anemia, Complementation Group G	Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, Leukemia	OMIM:614082
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma, Neoplasm	ORPHA:2807
Chloramphenicol Toxicity	Aplastic anemia	OMIM:515000
Immunodeficiency 69	Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia	OMIM:618963
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Monocytosis, Lymphoma, Myelodysplasia, Refractory anemia, Bone marrow hypocellularity...	OMIM:616871
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Isolated Follicle Stimulating Hormone Deficiency	Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi...	ORPHA:52901
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis, Neoplasm of the skin	OMIM:142630
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly...	ORPHA:158057
Immunodeficiency 105	B-cell lymphoma, Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired ...	OMIM:619924
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Acute Panmyelosis With Myelofibrosis	Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Myelofibrosis, Abnormality of bo...	ORPHA:86843
Glioma Susceptibility 9	Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma	OMIM:616568
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Transcobalamin Deficiency	Neutropenia, Lymphopenia, Megaloblastic bone marrow, Pancytopenia, Thrombocytopenia	ORPHA:859
Partial Chromosome Y Deletion	Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ...	ORPHA:1646
Ring Chromosome Y Syndrome	Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m...	ORPHA:261529
Immunodeficiency 84	B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2	Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia	OMIM:614743
Kennedy Disease	Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility	ORPHA:481
Oocyte Maturation Defect 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Erythroid hypoplasia, Macrocytic anemi...	ORPHA:86841
Refractory Anemia	Anemia of inadequate production, Single lineage myelodysplasia, Normocytic anemia, Erythroid hypo...	ORPHA:98826
Gardner Syndrome	Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci...	ORPHA:79665
Myeloproliferative Disorder, Chronic, With Eosinophilia	Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation	OMIM:131440
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia	ORPHA:231393
Anemia, Sideroblastic, 5	Refractory anemia with ringed sideroblasts, Hypochromic microcytic anemia, Neutropenia, Reduced h...	OMIM:619523
Lymphedema, Primary, With Myelodysplasia	Myelodysplasia, Pancytopenia, Verrucae, Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio	OMIM:614038
Spermatogenic Failure 57	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Female Infertility Due To Oocyte Meiotic Arrest	Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis	ORPHA:488191
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Erythroid hypoplasia, Myelodysplasia, Megakaryocyte nucleus hypo...	OMIM:153550
Immunodeficiency 76	B-cell lymphoma, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy	OMIM:619164
Isochromosomy Yp	Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ...	ORPHA:98797
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia	OMIM:205950
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Dysphagia, Testicular atrophy, Decreased fertility	OMIM:313200
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Leukopenia, Anemia, Thrombocytopenia	OMIM:615715
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia	ORPHA:157991
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size	OMIM:619145
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Wt Limb-Blood Syndrome	Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia	OMIM:194350
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Failure to thrive secondary to recurrent infection...	OMIM:608971
Symptomatic Form Of Hemochromatosis Type 1	Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Decreased serum te...	ORPHA:465508
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Isochromosomy Yq	Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins...	ORPHA:98798
Oocyte Maturation Defect 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte Maturation Defect 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Oocyte Maturation Defect 10	Female infertility	OMIM:619176
Agammaglobulinemia 8B, Autosomal Recessive	Failure to thrive, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, ...	OMIM:619824
Spermatogenic Failure 20	Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 72	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s...	OMIM:619867
Oocyte Maturation Defect 8	Female infertility	OMIM:619009
Spermatogenic Failure 63	Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility	OMIM:619689
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, Cervical lymp...	OMIM:618987
Fanconi-Like Syndrome	Multiple cutaneous malignancies, Pancytopenia	OMIM:227850
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Cirrhosis, Pancytopenia, Thrombocytopenia, Reticulated skin pigmentation	OMIM:613987
Oocyte Maturation Defect 12	Female infertility	OMIM:619697
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma	OMIM:247640
Unclassified Myelodysplastic Syndrome	Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia, Bone marrow hypocellularity, Acute...	ORPHA:98827
Spermatogenic Failure 46	Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell...	OMIM:619095
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia	OMIM:615285
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Spermatogenic Failure 65	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced...	OMIM:619712
Amed Syndrome, Digenic	Failure to thrive, Leukopenia, Myelodysplasia, Bone marrow hypocellularity, Anemia, Thrombocytope...	OMIM:619151
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Pancytopenia	OMIM:600546
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia	ORPHA:169079
Immunodeficiency 24	Lymphopenia, Lymphoproliferative disorder, Reduced proportion of mucosal-associated invariant T c...	OMIM:615897
Immunodeficiency 40	Lymphopenia	OMIM:616433
Spermatogenic Failure 56	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced...	OMIM:619515
Spermatogenic Failure 43	Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai...	OMIM:618751
Spermatogenic Failure 49	Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe...	OMIM:619094
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Thrombocytopenia 7	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619130
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder	OMIM:254700
Spermatogenic Failure, X-Linked, 3	Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short...	OMIM:301059
Aplastic Anemia	Bone marrow hypocellularity, Aplastic anemia	OMIM:609135
Immunodeficiency 19	Failure to thrive, Lymphopenia	OMIM:615617
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Spermatogenic Failure 59	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619878
Lymphoproliferative Syndrome 1	Hodgkin lymphoma, B-cell lymphoma, Splenomegaly, Lymphoproliferative disorder, Leukopenia, Autoim...	OMIM:613011
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
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Idiopathic Aplastic Anemia	Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:88
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Spermatogenic Failure 54	Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel...	OMIM:619379
Primary Myelofibrosis	Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Abnormality of bone marrow cell ...	ORPHA:824
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Spermatogenic Failure 40	Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse...	OMIM:618664
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Familial Adenomatous Polyposis 1	Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade...	OMIM:175100
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Capillary hemangioma, Hydrocephalus	ORPHA:2703
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased...	OMIM:615513
Spermatogenic Failure 58	Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ...	OMIM:619585
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Spermatogenic Failure 39	Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili...	OMIM:618643
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,...	ORPHA:3226
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, T lymphocytopenia	OMIM:233650
Spermatogenic Failure 42	Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma...	OMIM:618745
N Syndrome	Cryptorchidism, Leukemia, Neoplasm	OMIM:310465
Aggressive Systemic Mastocytosis	Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, H...	ORPHA:98850
Premature Ovarian Failure 19	Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency	OMIM:619245
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi...	OMIM:611102
Immunodeficiency 36	B-cell lymphoma, Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphati...	OMIM:616005
Spermatogenic Failure 47	Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella	OMIM:619102
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility	OMIM:619108
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Sterile abscess, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia, Pancytopenia	OMIM:604416
Papular Xanthoma	Histiocytosis	ORPHA:158008
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility	OMIM:261550
Li-Fraumeni Syndrome	Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca...	ORPHA:524
Isovaleric Acidemia	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Pancytopenia	OMIM:243500
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Clinodactyly of the 5th finger, Intestinal malrotation, Syndactyly, Toe synda...	OMIM:601163
Hyperlysinemia, Type I	Anemia	OMIM:238700
Bleeding Disorder, Platelet-Type, 16	Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane...	OMIM:187800
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Myelodysplasia, Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia, Multiple lipomas	ORPHA:529
Systemic Mastocytosis With Associated Hematologic Neoplasm	Multiple myeloma, Hepatomegaly, Neutrophilia, Weight loss, Lymphadenopathy, Abnormal mast cell mo...	ORPHA:98849
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Abnormal granulocytopoietic cell morphology, Anisocytosis, Macr...	OMIM:300835
Mu-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, Lymphadenopathy	ORPHA:100024
Mantle Cell Lymphoma	B-cell lymphoma, Weight loss, Lymphadenopathy, Splenomegaly	ORPHA:52416
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Abnormal megakaryocyte morphology, Hypochromic anemia, Anisocyto...	ORPHA:67044
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1	Aplastic anemia, Myeloid leukemia, Myelodysplasia, Pancytopenia, Bone marrow hypocellularity, Anemia	OMIM:614742
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis	OMIM:603529
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	ORPHA:517
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Mismatch Repair Cancer Syndrome 2	T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme	OMIM:619096
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Spermatogenic Failure 11	Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility	OMIM:615081
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h...	ORPHA:444463
Male Infertility Due To Acephalic Spermatozoa	Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid...	ORPHA:529970
Spermatogenic Failure 41	Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head	OMIM:618670
Lymphoproliferative Syndrome, X-Linked, 1	Burkitt lymphoma, Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Ly...	OMIM:308240
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Acute Monoblastic/Monocytic Leukemia	Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat...	ORPHA:514
Spermatogenic Failure 7	Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility	OMIM:612997
Immunodeficiency 52	Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo...	OMIM:617514
Immunodeficiency 75	Hepatosplenomegaly, Follicular hyperplasia, Lymphoma, Decreased proportion of class-switched memo...	OMIM:619126
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,...	ORPHA:733
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 1	Cryptozoospermia, Oligospermia, Male infertility	OMIM:258150
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy, Dysphagia, Hypogonadism	OMIM:160900
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Immotile sperm, Abnormal sperm morphology	OMIM:608653
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Failure to thrive, Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia, T lymph...	ORPHA:277
Fanconi Anemia, Complementation Group D1	Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Failure to thrive, Acute myelo...	OMIM:605724
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Splenomegaly, Hemophagocytosis, Pancytopenia	OMIM:300635
Turcot Syndrome With Polyposis	Melena, Hepatoblastoma, Soft tissue neoplasm, Hematochezia, Basal cell carcinoma, Intestinal poly...	ORPHA:99818
Omenn Syndrome	Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l...	OMIM:603554
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Lymphopenia, Abnormally low T cell receptor excision circle level, Myelodysplasia, Pancytopenia, ...	OMIM:619767
Spermatogenic Failure 22	Cryptozoospermia, Male infertility, Non-obstructive azoospermia	OMIM:617706
Leishmaniasis	Splenomegaly, Leukopenia, Abnormal macrophage morphology, Pancytopenia, Anemia, Thrombocytopenia	ORPHA:507
Aregenerative Anemia	Abnormal proportion of CD8-positive T cells, Abnormality of bone marrow cell morphology, Neutrope...	ORPHA:101096
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice	OMIM:312500
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Spermatogenic Failure 5	Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa	OMIM:243060
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre...	OMIM:603902
Oocyte Maturation Defect 11	Female infertility	OMIM:619643
Oocyte Maturation Defect 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Preimplantation Embryonic Lethality 1	Female infertility	OMIM:616814
Oocyte Maturation Defect 7	Female infertility	OMIM:618550
Oocyte Maturation Defect 1	Female infertility	OMIM:615774
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona...	OMIM:308700
Lymphoproliferative Syndrome 2	Hodgkin lymphoma, Hemophagocytosis, Splenomegaly, Lymphoproliferative disorder, Hepatosplenomegal...	OMIM:615122
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly	ORPHA:46532
Primary Erythromelalgia	Leukemia	ORPHA:90026
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly	OMIM:618398
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Wolfram Syndrome 1	Megaloblastic anemia, Testicular atrophy, Limited mobility of proximal interphalangeal joint, Pig...	OMIM:222300
Spermatogenic Failure 70	Azoospermia, Oligospermia, Male infertility, Reduced sperm motility	OMIM:619828
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Cutaneous Neuroendocrine Carcinoma	Multiple myeloma, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Lymphoid leukemia, Basa...	ORPHA:79140
Autosomal Dominant Severe Congenital Neutropenia	Lymphopenia, Hemangioma, Eosinophilia, Monocytosis, Aplastic anemia, Myelodysplasia, Acute lympho...	ORPHA:486
Kallmann Syndrome With Spastic Paraplegia	Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog...	OMIM:308750
Spermatogenic Failure 64	Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility	OMIM:619696
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia	OMIM:246470
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c...	ORPHA:168563
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Gray Platelet Syndrome	Myelodysplasia, Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly	ORPHA:721
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Autoinflammation With Infantile Enterocolitis	Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count	OMIM:616050
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer...	OMIM:151623
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:610333
Gaucher Disease, Type Iii	Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia	OMIM:617872
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval...	ORPHA:35858
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia	OMIM:124900
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Hodgkin lymphoma, B-cell lymphoma, Splenomegaly, Lymphoproliferative disorder, Autoimmune thrombo...	OMIM:300853
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou...	ORPHA:443167
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n...	OMIM:212050
Dohle Bodies And Leukemia	Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia	OMIM:223350
Non-Involuting Congenital Hemangioma	Hemangioma, Perineal hemangioma, Hepatic hemangioma, Midfrontal capillary hemangioma, Thrombocyto...	ORPHA:141179
Aicardi Syndrome	Malabsorption, Precocious puberty, Abnormality of retinal pigmentation, Hepatoblastoma, Hiatus he...	ORPHA:50
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Autoinflammatory-Pancytopenia Syndrome	Granuloma, Hepatosplenomegaly, Hemophagocytosis, Pancytopenia	OMIM:619858
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive, Failure to thrive secondary to recurrent infections, B lymphocytopenia, T lymp...	OMIM:601457
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis	OMIM:608898
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Hemangioma, Thrombocytopenia	OMIM:141000
Dyskeratosis Congenita, Autosomal Recessive 3	Bone marrow hypocellularity, Squamous cell carcinoma of the tongue, Pancytopenia	OMIM:613988
Essential Thrombocythemia	Myelodysplasia, Acute leukemia, Abnormal platelet morphology, Splenomegaly	ORPHA:3318
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Papilloma Of Choroid Plexus	Papilloma, Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Anisopoikilocytosis, Anemia, Thrombocytopenia	OMIM:617441
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Aarskog-Scott Syndrome	Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Hyperextensibilit...	OMIM:305400
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon...	OMIM:300510
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly, Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty,...	ORPHA:141333
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi...	OMIM:618204
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal...	OMIM:618986
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Tibial bowing, Talipes equinovarus, Hepatoblastoma, Teratoma, Mic...	OMIM:269150
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Immunodeficiency 64	Failure to thrive, B-cell lymphoma, Splenomegaly, Increased proportion autoreactive unresponsive ...	OMIM:618534
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Malignant neoplasm of the central nervous system	ORPHA:99966
Pineocytoma	Hydrocephalus, Increased CSF protein	ORPHA:251912
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency 48	Failure to thrive, Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Edinburgh Malformation Syndrome	Hydrocephalus, Jaundice	OMIM:129850
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Premature Ovarian Failure 6	Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm...	OMIM:612310
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Lig4 Syndrome	Myelodysplasia, Thrombocytopenia, Pancytopenia	OMIM:606593
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Bleeding Disorder, Platelet-Type, 15	Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis	OMIM:615193
Refractory Anemia With Excess Blasts	Anemia of inadequate production, Leukocytosis, Single lineage myelodysplasia, Abnormal mean corpu...	ORPHA:86839
Platelet Signal Processing Defect	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb...	OMIM:173590
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Premature Ovarian Failure 5	Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda...	OMIM:611548
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi...	OMIM:155100
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:228312
Bleeding Disorder, Platelet-Type, 24	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619271
Syndromic Diarrhea	Colitis, Hepatomegaly, Hepatoblastoma, Lymphopenia, Generalized hypopigmentation, Splenomegaly, C...	ORPHA:84064
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Leukopenia, Refractory anemia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Schinzel-Giedion Syndrome	Hepatoblastoma, Streak ovary, Short 1st metacarpal, Radioulnar synostosis, Sacrococcygeal teratom...	ORPHA:798
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Abnormal dense granule content, Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia...	OMIM:601399
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Meningioma, Nephroblastoma	OMIM:602501
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia	OMIM:607616
Aicardi Syndrome	Lipoma, Precocious puberty, Hepatoblastoma, Teratoma, Dandy-Walker malformation, Choroid plexus c...	OMIM:304050
Premature Ovarian Failure 10	Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo...	OMIM:612885
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
46,Xy Partial Gonadal Dysgenesis	Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h...	ORPHA:251510
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Nephronophthisis	Anemia	ORPHA:655
Rapidly Involuting Congenital Hemangioma	Hemangioma, Perineal hemangioma, Hepatic hemangioma, Midfrontal capillary hemangioma, Thrombocyto...	ORPHA:141184
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In...	ORPHA:399805
Neonatal Lupus Erythematosus	Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia	ORPHA:398124
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia	OMIM:229050
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia	OMIM:259710
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Lymphadenopa...	ORPHA:79456
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the uterus, Decreased serum testosterone concentration, Hypoplasia of the ovary, Mi...	OMIM:614841
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia	OMIM:603552
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Megaloblastic bone marrow, Neutropenia, Reticulocytopenia	OMIM:275350
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Hepatoblastoma, Polysplenia, Clinodactyly of the 5th finger, Talipes equinovarus, H...	ORPHA:373
Anemia, Sideroblastic, 1	Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ...	OMIM:300751
Asherman Syndrome	Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr...	ORPHA:137686
Immunodeficiency 13	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly	OMIM:618394
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Dyskeratosis Congenita, Autosomal Dominant 6	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia	OMIM:616553
Severe Combined Immunodeficiency, X-Linked	Failure to thrive, Hepatomegaly, Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte...	OMIM:300400
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Alpha-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a...	ORPHA:846
Premature Ovarian Failure 8	Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:615723
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopat...	ORPHA:66661
Nodular Lymphocyte Predominant Hodgkin Lymphoma	B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Weight loss, Lymphadenop...	ORPHA:86893
Immunodeficiency 102	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p...	OMIM:301082
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Dys...	OMIM:157640
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame...	OMIM:617565
Platelet Disorder, Undefined	Hematological neoplasm, Thrombocytopenia, Neuroblastoma, Impaired platelet aggregation	OMIM:173420
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromb...	OMIM:619375
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hemophagocytosis, Neutropenia	ORPHA:79477
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Congenital Atransferrinemia	Anemia	ORPHA:1195
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia	OMIM:616176
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level...	OMIM:619665
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Ovarian Dysgenesis 10	Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am...	OMIM:619834
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Familial Male-Limited Precocious Puberty	Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism	ORPHA:3000
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen...	OMIM:607594
Thymoma	Neoplasm, Aplastic anemia, Non-Hodgkin lymphoma, Neoplasm of the gastrointestinal tract, Neoplasm...	ORPHA:99867
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Lymphoproliferative disorder, Chronic lymphatic leukemia, Autoimmune hemolytic anem...	ORPHA:90033
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Cu...	ORPHA:2183
Myelofibrosis	Myeloproliferative disorder, Splenomegaly	OMIM:254450
Hereditary Folate Malabsorption	Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia	ORPHA:90045
Premature Ovarian Failure 13	Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo...	OMIM:617442
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Reticular Dysgenesis	Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis	OMIM:267500
Bangstad Syndrome	Pancytopenia	OMIM:210740
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia	OMIM:615234
Neural Tube Defects, Susceptibility To	Myelomeningocele, Hydrocephalus, Lipoma, Anencephaly, Multiple lipomas, Spina bifida occulta	OMIM:182940
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Anemia, Thrombocytopenia, Leukopenia	OMIM:618116
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm...	ORPHA:169154
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid...	OMIM:237800
Lig4 Syndrome	Hepatomegaly, Leukocytosis, Lymphoma, Pancytopenia, Cryptorchidism, Lymphadenopathy, Acute leukemia	ORPHA:99812
Immunodeficiency By Defective Expression Of Mhc Class Ii	Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope...	ORPHA:572
Normosmic Congenital Hypogonadotropic Hypogonadism	Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Decreased ...	ORPHA:432
1Q21.1 Microduplication Syndrome	Hydrocephalus, Gastroesophageal reflux, Talipes equinovarus, Hypospadias, Cryptorchidism	ORPHA:250994
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low...	OMIM:602450
Immunodeficiency 46	Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Gaucher Disease, Type I	Multiple myeloma, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism	OMIM:230800
Combined Immunodeficiency Due To Dock8 Deficiency	Anal canal squamous carcinoma, B lymphocytopenia, T lymphocytopenia, Squamous cell carcinoma, Ver...	ORPHA:217390
Dandy-Walker Syndrome	Hydrocephalus, Dilated fourth ventricle	OMIM:220200
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Congenital thrombocytopenia, Megakaryocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia	OMIM:605432
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Frasier Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo...	ORPHA:347
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level...	OMIM:619203
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Epidermodysplasia Verruciformis, Susceptibility To, 5	Squamous cell carcinoma of the skin, Verrucae, Lymphopenia, T lymphocytopenia	OMIM:618309
Functioning Gonadotropic Adenoma	Hydrocephalus, Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, ...	ORPHA:91348
Tufted Angioma	Megakaryocytopenia, Facial hemangioma, Neoplasm of the skin, Anemia, Thrombocytopenia, Hemangioma...	ORPHA:1063
Beckwith-Wiedemann Syndrome	Neoplasm, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Neuroblastoma, Cryptorchidi...	ORPHA:116
46,Xx Gonadal Dysgenesis	Streak ovary, Arachnodactyly, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the u...	ORPHA:243
Immunodeficiency 57 With Autoinflammation	Failure to thrive, B lymphocytopenia, T lymphocytopenia, Perianal abscess, Reduced natural killer...	OMIM:618108
Beckwith-Wiedemann Syndrome	Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Nephroblastoma, Adrenocortical cytomegaly, ...	OMIM:130650
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia	OMIM:598500
Central Precocious Puberty	Hydrocephalus, Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Cafe-au...	ORPHA:759
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Thrombocytosis, Myelodysplasia, Weight loss, Acute my...	ORPHA:71493
Thrombocythemia 2	Thrombocytosis, Increased megakaryocyte count	OMIM:601977
Chilblain Lupus	Chronic myelomonocytic leukemia	ORPHA:90280
Band Heterotopia	Hydrocephalus, Ventriculomegaly	OMIM:600348
Melanosis, Neurocutaneous	Hydrocephalus, Melanoma, Meningioma, Choroid plexus papilloma, Dandy-Walker malformation	OMIM:249400
Coffin-Siris Syndrome	Hepatoblastoma, Hypospadias, Short 5th finger, Papillary thyroid carcinoma, Clinodactyly, Cryptor...	ORPHA:1465
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Secondary amenorrhea, Hepat...	OMIM:613313
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Spermatogenic Failure 38	Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea...	OMIM:618433
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating...	OMIM:616950
Acute Promyelocytic Leukemia	Bone marrow hypercellularity, Neutropenia, Leukocytosis, Leukopenia, Pancytopenia, Anemia, Thromb...	ORPHA:520
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s...	OMIM:619846
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th...	OMIM:209950
Fetal Gaucher Disease	Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Pancytopenia	ORPHA:85212
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision ci...	OMIM:242700
Gorlin Syndrome	Neoplasm, Hydrocephalus, Arachnodactyly, Hypogonadotropic hypogonadism, Brachydactyly, Melanocyti...	ORPHA:377
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge...	ORPHA:399808
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Pancytopenia	OMIM:617341
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B...	OMIM:301078
Dyskeratosis Congenita, Autosomal Dominant 1	Lymphopenia, Aplastic anemia, Myelodysplasia, Bone marrow hypocellularity, Squamous cell carcinom...	OMIM:127550
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis...	OMIM:615631
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Mismatch Repair Cancer Syndrome 1	Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi...	OMIM:276300
Hemochromatosis, Type 2A	Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Hy...	OMIM:602390
Slc35A1-Cdg	Abnormal megakaryocyte morphology, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal plate...	ORPHA:238459
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio...	OMIM:619313
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Lym...	OMIM:615559
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh...	OMIM:618841
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:613101
Immunodeficiency 72 With Autoinflammation	Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell count	OMIM:618982
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Anemia, Neutropenia, Pancytopenia	OMIM:251110
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti...	ORPHA:766
Maternal Uniparental Disomy Of Chromosome 1	Pancytopenia	ORPHA:251009
Cyanosis, Transient Neonatal	Methemoglobinemia, Reticulocytosis, Anemia	OMIM:613977
Satoyoshi Syndrome	Amenorrhea, Abnormality of femur morphology, Nephrogenic diabetes insipidus, Hypoplasia of the ut...	ORPHA:3130
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Syndromic Recessive X-Linked Ichthyosis	Testicular seminoma, Cryptorchidism, Acute leukemia	ORPHA:281090
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia, Spermatocele	OMIM:301060
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Obesity Due To Congenital Leptin Deficiency	Hypoplasia of the ovary, Decreased serum testosterone concentration, Hyperinsulinemia, Hypergonad...	ORPHA:66628
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Schnitzler Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Lymphoma, Anemia, Lymphadenopathy	ORPHA:37748
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Thrombocytopenia, Lymphopenia	OMIM:616744
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphoma, Anemia, Ascites, Lymphadenopathy	ORPHA:100025
Bardet-Biedl Syndrome	Hypoplasia of the ovary, Hypoplasia of penis, Pigmentary retinopathy, Postaxial hand polydactyly,...	ORPHA:110
Shwachman-Diamond Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Aplastic anemia, Macrocytic anemia, Pancreatic h...	ORPHA:811
Dyskeratosis Congenita, Autosomal Dominant 3	Leukopenia, Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613990
Androgen Insensitivity Syndrome	Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul...	ORPHA:754
Perrault Syndrome 4	Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Oligomenorrhea, Primary ame...	OMIM:615300
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Bone marrow hypocellularity, Thrombocytop...	OMIM:613989
Storage Pool Platelet Disease	Myelodysplasia, Acute leukemia, Decreased mean platelet volume	OMIM:185050
Propionic Acidemia	Thrombocytopenia, Anemia, Neutropenia, Pancytopenia	OMIM:606054
Burkitt Lymphoma	Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Neoplasm ...	ORPHA:543
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia,...	OMIM:260400
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Abnormal vagina morphology, Streak ovary, Hypospadias, Nephroblastoma, Abnormality of the uterus,...	OMIM:194072
Reticular Dysgenesis	Failure to thrive, Leukopenia, Abnormality of neutrophils, Weight loss, Aplasia/Hypoplasia of the...	ORPHA:33355
Immunodeficiency, Common Variable, 8, With Autoimmunity	Splenomegaly, Lymphoproliferative disorder, Autoimmune thrombocytopenia, B lymphocytopenia, Lymph...	OMIM:614700
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Thrombocytopenia, Hypersplenism, Splenomegaly	OMIM:610539
Ataxia-Telangiectasia	Failure to thrive, Hodgkin lymphoma, Lymphopenia, Hypoplasia of the thymus, Non-Hodgkin lymphoma,...	OMIM:208900
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma...	OMIM:618849
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites	Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia	OMIM:141700
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Fanconi Anemia, Complementation Group P	Squamous cell carcinoma, Anemia, Pancytopenia	OMIM:613951
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy	OMIM:618852
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:179494
Hemophagocytic Syndrome Associated With An Infection	Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A...	ORPHA:158048
Nasu-Hakola Disease	Acute leukemia	ORPHA:2770
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia	OMIM:615085
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 rat...	OMIM:618495
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture of thumb, Hepatomegaly, Hepatoblastoma, External genital hypoplasia, Clinodac...	ORPHA:96334
Hydrocephalus, Congenital Communicating, 1	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi...	ORPHA:2235
Lymphoid System Deterioration, Progressive	Abnormal T cell morphology, Lymphopenia	OMIM:247630
Immunodeficiency 54	Failure to thrive, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphoprolifer...	OMIM:609981
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Anemia, Neutropenia, Pancytopenia	OMIM:251100
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Adenomatous colonic polyposis, Intestinal bleeding, Hepatoblastoma, Desmoid tumors, Duodenal poly...	ORPHA:261584
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia, Hemangiomatosis, Visceral angiomatosis	ORPHA:2123
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary, Premature ovarian insufficiency	OMIM:609993
Fanconi Anemia, Complementation Group E	Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia	OMIM:600901
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Cryptorchidism, Breast carcinoma, Micropenis, Hypospadias, Melanoma, De...	ORPHA:1916
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating...	OMIM:108420
Hodgkin Lymphoma	Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Weight loss, Lymphadenopathy	ORPHA:98293
Diencephalic Syndrome	Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Long penis, Large hands, Neoplasm ...	ORPHA:1672
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ...	ORPHA:79124
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis

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