Not currently registered for phenotyping at IMPC

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

Gene Summary

RAD50 double strand break repair protein
Mrell,  Rad50l

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

Disease Similarity of
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

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

Disease Similarity of
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
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
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
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
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
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
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
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
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
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
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
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