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:
Rad50l,  Mrell

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... 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 Similarity of
phenotypes
Matching phenotypes Source
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Acute Erythroid Leukemia
Erythroid hypoplasia, Bone marrow hypercellularity, Refractory anemia with ringed sideroblasts, P... ORPHA:318
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Megakaryocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Myelodysplasia, Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Incr... OMIM:619041
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Pancytopenia, Splenomegaly OMIM:615593
Acquired Idiopathic Sideroblastic Anemia
Increased megakaryocyte count, Abnormal megakaryocyte morphology, Neutropenia, Pancytopenia, Myel... ORPHA:75564
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Erythroleukemia, Familial, Susceptibility To
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... OMIM:133180
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia 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
Bone Marrow Failure Syndrome 1
Pancytopenia, Myelodysplasia, Bone marrow hypocellularity, Aplastic anemia OMIM:614675
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia OMIM:616435
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Lymphoproliferative disorder, Hemolytic anemia, Autoimmune thrombocyt... OMIM:614470
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Reticulated skin pigmentation, Thrombocytopenia, Testicular atrophy, Pancytopenia OMIM:613987
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Granulocytic hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Immunodeficiency 21
Myeloid leukemia, Myelodysplasia, Monocytopenia, Abnormal natural killer cell morphology, Lymphop... OMIM:614172
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Elevated hepatic transaminase, Amenorrhea, Hepatocellular carcinoma, Impo... OMIM:235200
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Papilloma Of Choroid Plexus
Neoplasm, Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, A... ORPHA:231401
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Myelodysplasia, Lymphoma, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bon... OMIM:616871
Chloramphenicol Toxicity
Aplastic anemia OMIM:515000
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis, Neoplasm of the skin OMIM:142630
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Myelofibrosis, Bone marrow hypercellularity, Abnormality of bone marrow stromal ce... ORPHA:86843
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Myeloid leukemia, Pancytopenia, Aplastic anemia, Leukemia, Bone marrow hypocellularity OMIM:614743
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Thrombocytopenia 2
Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Refractory Anemia
Erythroid hypoplasia, Myelodysplasia, Single lineage myelodysplasia, Neutropenia, Normocytic anem... ORPHA:98826
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Gardner Syndrome
Abnormality of skin pigmentation, Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcom... ORPHA:79665
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Myelodysplasia, Thrombocytosis, Abnormal erythrocyte morphology, Acute myel... ORPHA:86841
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Malignant eosinophil proliferation, Eosinophilia OMIM:131440
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Transcobalamin Deficiency
Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, Megaloblastic bone marrow ORPHA:859
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Hepatomegaly, Splenomegal... OMIM:608971
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Glioma Susceptibility 9
Leukemia, Glioma, Astrocytoma OMIM:616568
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Megakaryocyte nucleus hypolob... OMIM:153550
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Dysphagia, Testicular atrophy, Decreased fertility OMIM:313200
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume OMIM:252270
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Wt Limb-Blood Syndrome
Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B-cell lymphoma, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Bone marrow hypocellularity, Squamous cell carcinoma OMIM:613988
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... OMIM:617780
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Symptomatic Form Of Hemochromatosis Type 1
Generalized bronze hyperpigmentation, Infertility, Cirrhosis, Amenorrhea, Erectile dysfunction, H... ORPHA:465508
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Fanconi-Like Syndrome
Pancytopenia, Multiple cutaneous malignancies OMIM:227850
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Lymphedema, Primary, With Myelodysplasia
Pancytopenia, Leukemia, Myelodysplasia OMIM:614038
Unclassified Myelodysplastic Syndrome
Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple lineage myelodysplasia, Bone marro... ORPHA:98827
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia OMIM:600546
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias OMIM:247640
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy... OMIM:618987
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Deafness-Infertility Syndrome
Reduced sperm motility, Male infertility, Abnormal spermatogenesis OMIM:611102
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Amed Syndrome, Digenic
Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia, Failure to thrive, ... OMIM:619151
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Immunodeficiency 40
Lymphopenia OMIM:616433
Aplastic Anemia
Bone marrow hypocellularity, Aplastic anemia OMIM:609135
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Immunodeficiency 24
Lymphoproliferative disorder, Decreased proportion of memory B cells, Lymphopenia, Reduced propor... OMIM:615897
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Lymphoproliferative Syndrome 1
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased... OMIM:613011
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellularity ORPHA:88
Immunodeficiency 19
Lymphopenia, Failure to thrive OMIM:615617
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Mantle Cell Lymphoma
Weight loss, B-cell lymphoma, Lymphadenopathy, Splenomegaly ORPHA:52416
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Primary Myelofibrosis
Hemangioma, Thrombocytosis, Abnormality of bone marrow cell morphology, Bone marrow hypercellular... ORPHA:824
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Burkitt lymphoma, Lymphoma, Pancytopenia, Thrombocy... OMIM:308240
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Weight loss, Thrombocytopenia, Hepatomegaly, Abnormal ... ORPHA:3226
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Intestinal malrotation, Testicular atrophy, Syndactyly, Clinodactyly of the 5th f... OMIM:601163
N Syndrome
Neoplasm, Cryptorchidism, Leukemia OMIM:310465
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Pancytopenia, Sterile abscess, Hepatosplenomegaly OMIM:604416
Isovaleric Acidemia
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Leukopenia OMIM:243500
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Papular Xanthoma
Histiocytosis ORPHA:158008
Mu-Heavy Chain Disease
Weight loss, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Abnormal granulocytopoietic cell morphology, Incre... OMIM:300835
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Abnormality of multiple cell lineages in the bone marrow, Abnormal megakaryoc... ORPHA:67044
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Multiple lipomas ORPHA:529
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Myelodysplasia, Pancytopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity OMIM:614742
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Specific Granule Deficiency 2
Absent neutrophil specific granules, Myelodysplasia, Neutropenia, Thrombocytopenia, Anemia OMIM:617475
Apolipoprotein A-I Deficiency
Anemia, Abnormality of the liver, Lymphadenopathy, Splenomegaly ORPHA:425
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss, Chronic myelomonocytic leukemia, Abnormal mast cell morphology, Neutrophilia, Eosino... ORPHA:98849
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Weight loss, Pancytopenia, T... ORPHA:98850
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias OMIM:619096
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Familial Adenomatous Polyposis
Thyroiditis, Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, ... ORPHA:733
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Weight loss, Anemia, C... ORPHA:514
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphoma, Hepatosp... OMIM:619126
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Bone marrow hypocellularity, Failure to thrive, T-cell acute lymphoblasti... OMIM:605724
Turcot Syndrome With Polyposis
Melena, Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cer... ORPHA:99818
Lymphoproliferative Syndrome 2
Hemophagocytosis, Lymphoproliferative disorder, Lymphoma, Pancytopenia, Hodgkin lymphoma, Aplasti... OMIM:615122
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Edinburgh Malformation Syndrome
Jaundice, Hydrocephalus OMIM:129850
Myotonic Dystrophy 1
Dysphagia, Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Aplastic anemia, Splenomegaly OMIM:300635
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Lymphopenia, B lymphocytopenia, Failure to thrive, Absence of ... ORPHA:277
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia ORPHA:507
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Immunodeficiency 36
Lymphopenia, B-cell lymphoma, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Omenn Syndrome
Severe B lymphocytopenia, Hypoplasia of the thymus, Thrombocytopenia, Hepatomegaly, Eosinophilia,... OMIM:603554
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
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Wolfram Syndrome 1
Pigmentary retinopathy, Megaloblastic anemia, Hypothyroidism, Dysphagia, Sideroblastic anemia, Th... OMIM:222300
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Chronic noninfectious lymphade... ORPHA:79140
Primary Erythromelalgia
Leukemia ORPHA:90026
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Gray Platelet Syndrome
Thrombocytopenia, Abnormal thrombocyte morphology, Myelodysplasia, Splenomegaly ORPHA:721
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Failure to thrive, Splenomegaly, Lymphadenopathy OMIM:618495
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:231000
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Hemangioma, Myelodysplasia, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukem... ORPHA:486
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Hepatosplenomegaly, Anemia OMIM:608898
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia OMIM:617872
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive h... OMIM:300853
Aicardi Syndrome
Abnormality of skin pigmentation, Hiatus hernia, Abnormality of retinal pigmentation, Ventriculom... ORPHA:50
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Essential Thrombocythemia
Abnormal platelet morphology, Myelodysplasia, Acute leukemia, Splenomegaly ORPHA:3318
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Biemond Syndrome Type 2
Preaxial polydactyly, Delayed puberty, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, ... ORPHA:141333
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, T lymphocytopenia, B lymphocytopenia, Failur... OMIM:601457
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma, Papilloma OMIM:260500
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Schinzel-Giedion Midface Retraction Syndrome
Talipes equinovarus, Facial hemangioma, Postaxial hand polydactyly, Sacrococcygeal teratoma, Vent... OMIM:269150
Lig4 Syndrome
Thrombocytopenia, Myelodysplasia, Pancytopenia OMIM:606593
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Mast Cell Sarcoma
Weight loss, Hepatomegaly, Sarcoma, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymp... ORPHA:66661
Aarskog-Scott Syndrome
Cryptorchidism, Short 5th finger, Elevated circulating luteinizing hormone level, Broad palm, Bil... OMIM:305400
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Atypical Teratoid Rhabdoid Tumor
Malignant neoplasm of the central nervous system, Hydrocephalus ORPHA:99966
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Aicardi Syndrome
Hiatus hernia, Spina bifida, Hemangioma, Choroid plexus cyst, Carcinoma, Metastatic angiosarcoma,... OMIM:304050
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Myelodysplasia, Acute monocytic leukemia, Abnormal alpha granule c... OMIM:601399
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Thrombocytopenia, Leukopenia, Refractory anemia, Bone marrow hypocellularity OMIM:231095
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased megakaryocyte count, Increased hemo... OMIM:263300
Syndromic Diarrhea
Hypopigmentation of hair, Thrombocytosis, Cirrhosis, Hypothyroidism, Lymphopenia, Villous atrophy... ORPHA:84064
Schinzel-Giedion Syndrome
Facial hemangioma, Camptodactyly, Central hypothyroidism, Short distal phalanx of finger, Micrope... ORPHA:798
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:259710
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Refractory Anemia With Excess Blasts
Leukocytosis, Single lineage myelodysplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia of ... ORPHA:86839
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Lymphoma, Hepatomegaly, B-cell lymphoma, Breast carcinoma, Splenomegaly, Lymphadenop... ORPHA:86893
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity OMIM:613989
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Anemia, Splenomegaly ORPHA:398124
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Immunodeficiency 48
Hepatomegaly, Failure to thrive, Splenomegaly OMIM:269840
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Nephronophthisis
Anemia ORPHA:655
Alpha-Thalassemia
Myelodysplasia, Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Spl... ORPHA:846
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Broad thumb, Neoplasm, Short 2nd finger, Postaxial hand polydactyly, Nephroblasto... ORPHA:373
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Platelet Disorder, Undefined
Thrombocytopenia, Hematological neoplasm, Impaired platelet aggregation, Neuroblastoma OMIM:173420
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Megaloblastic bone marrow, Macrocytic anemia OMIM:275350
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gonadotropin ... OMIM:614841
Non-Involuting Congenital Hemangioma
Hemangioma, Midfrontal capillary hemangioma, Perineal hemangioma, Thrombocytopenia, Hepatic heman... ORPHA:141179
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hemangioma OMIM:141000
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:618116
Dyskeratosis Congenita, Autosomal Dominant 6
Pancytopenia, Bone marrow hypocellularity, Aplastic anemia OMIM:616553
Paroxysmal Nocturnal Hemoglobinuria
Myelodysplasia, Hemolytic anemia, Pancytopenia, Acute myeloid leukemia, Hypoplastic anemia, Aplas... ORPHA:447
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Malaria
Thrombocytopenia, Anemia ORPHA:673
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, C... ORPHA:432
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Capillary hemangioma ORPHA:2703
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Congenital Atransferrinemia
Anemia ORPHA:1195
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Dysphagia, Primary amenorrhea, Testicular atrophy, Secondary amen... OMIM:157640
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Bangstad Syndrome
Pancytopenia OMIM:210740
Neural Tube Defects, Susceptibility To
Hydrocephalus, Anencephaly, Multiple lipomas, Spina bifida occulta, Myelomeningocele, Lipoma OMIM:182940
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Leukemia, Cutaneous mastocytosis ORPHA:79456
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Hepatomegaly, Splenomegaly OMIM:607616
Autoimmune Hemolytic Anemia, Warm Type
Lymphoproliferative disorder, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, ... ORPHA:90033
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Gonadoblastoma, Hypergonadot... ORPHA:347
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Hydrocephalus-Obesity-Hypogonadism Syndrome
Cubitus valgus, Short 4th metacarpal, Azoospermia, Abnormality of the hypothalamus-pituitary axis... ORPHA:2183
Lig4 Syndrome
Cryptorchidism, Leukocytosis, Lymphoma, Pancytopenia, Hepatomegaly, Acute leukemia, Lymphadenopathy ORPHA:99812
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:300400
Gaucher Disease, Type I
Multiple myeloma, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... ORPHA:572
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Rapidly Involuting Congenital Hemangioma
Hemangioma, Midfrontal capillary hemangioma, Perineal hemangioma, Thrombocytopenia, Hepatic heman... ORPHA:141184
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Camptodactyly, Spinal dysraphism, Interphalangeal joint contracture of finger, Me... ORPHA:96334
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia, Verrucae, Squamous cell carcinoma of the skin OMIM:618309
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Megakaryocytopenia, Congenital thrombocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia OMIM:605432
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, T lymphocytopenia, Squamous cell carcinoma of the vulva, Verrucae,... ORPHA:217390
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Hydrocephalus, Decreased female libido, Anterior hypop... ORPHA:91348
Beckwith-Wiedemann Syndrome
Cryptorchidism, Facial hemangioma, Exocrine pancreatic insufficiency, Neuroblastoma, Gonadoblasto... ORPHA:116
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Lymphoproliferative disorder, Increased pr... OMIM:615559
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Weight loss, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenter... OMIM:209950
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Decreased ost... OMIM:259720
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Thrombocythemia 2
Increased megakaryocyte count, Thrombocytosis OMIM:601977
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Alpha-Heavy Chain Disease
Lymphoma, Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymphaden... ORPHA:100025
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Acute Promyelocytic Leukemia
Bone marrow hypercellularity, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, ... ORPHA:520
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Primary amenorrhea, Decreased fertility, ... ORPHA:243
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Coffin-Siris Syndrome
Cryptorchidism, Papillary thyroid carcinoma, Hepatoblastoma, Clinodactyly, Hypospadias, Short 5th... ORPHA:1465
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Beckwith-Wiedemann Syndrome
Cryptorchidism, Gonadoblastoma, Hepatoblastoma, Hepatomegaly, Pancreatic hyperplasia, Nephroblast... OMIM:130650
Dyskeratosis Congenita, Autosomal Dominant 1
Myelodysplasia, Lymphopenia, Thrombocytopenia, Aplastic anemia, Anemia, Squamous cell carcinoma o... OMIM:127550
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
1Q21.1 Microduplication Syndrome
Cryptorchidism, Gastroesophageal reflux, Hypospadias, Talipes equinovarus, Hydrocephalus ORPHA:250994
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Gorlin Syndrome
Cryptorchidism, Palmar pits, Melanocytic nevus, Neoplasm, Hypogonadotropic hypogonadism, Arachnod... ORPHA:377
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count OMIM:618982
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus, Isosexual precoc... ORPHA:759
Hyperlipoproteinemia, Type Id
Hepatomegaly, Failure to thrive, Splenomegaly OMIM:615947
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Schnitzler Syndrome
Leukocytosis, Lymphoma, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Ataxia-Telangiectasia
T lymphocytopenia, Non-Hodgkin lymphoma, Decreased proportion of CD4-positive helper T cells, Lym... OMIM:208900
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, Failur... OMIM:618108
Storage Pool Platelet Disease
Myelodysplasia, Decreased mean platelet volume, Acute leukemia OMIM:185050
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Melanosis, Neurocutaneous
Choroid plexus papilloma, Meningioma, Hydrocephalus, Dandy-Walker malformation, Melanoma OMIM:249400
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia ORPHA:251009
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Splenomegaly, Failure to thrive, Anemia OMIM:615085
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, Streak ova... OMIM:194072
Shwachman-Diamond Syndrome 1
Myelodysplasia, Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute m... OMIM:260400
Hemochromatosis, Type 2A
Infertility, Cirrhosis, Azoospermia, Amenorrhea, Hepatomegaly, Hyperpigmentation of the skin, Spl... OMIM:602390
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Slc35A1-Cdg
Abnormal megakaryocyte morphology, Neutropenia, Thrombocytopenia, Giant platelets, Abnormal plate... ORPHA:238459
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Anterior hypopituitarism, Breast hypoplasia, Absence of secondary sex cha... ORPHA:2235
Familial Thrombocytosis
Myelodysplasia, Thrombocytosis, Chronic myelogenous leukemia, Weight loss, Acute myeloid leukemia... ORPHA:71493
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus OMIM:300884
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia OMIM:617341
Immunodeficiency 54
Lymphoproliferative disorder, Hepatomegaly, Reduced natural killer cell count, Adrenocorticotropi... OMIM:609981
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Lymphoproliferative disorder, Autoimmune t... OMIM:614700
Hodgkin Lymphoma
Weight loss, Lymphoma, Hepatomegaly, Neoplasm, Splenomegaly, Lymphadenopathy ORPHA:98293
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphoma, Hepatomegaly, Splenomegaly, Cutaneous T-cell lymphoma, ... ORPHA:2584
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Abnormality of femur morphology, Nephrogenic... ORPHA:3130
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Testicular seminoma, Acute leukemia ORPHA:281090
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251100
Shwachman-Diamond Syndrome
Neutropenia, Pancytopenia, Pancreatic hypoplasia, Leukopenia, Anemia, Myelodysplasia, Thrombocyto... ORPHA:811
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:66628
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Tufted Angioma
Facial hemangioma, Megakaryocytopenia, Thrombocytopenia, Anemia, Neoplasm of the skin ORPHA:1063
Bardet-Biedl Syndrome
Cryptorchidism, Postaxial hand polydactyly, Pigmentary retinopathy, Finger syndactyly, Hepatic fi... ORPHA:110
Fanconi Anemia, Complementation Group P
Pancytopenia, Squamous cell carcinoma, Anemia OMIM:613951
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Burkitt Lymphoma
Abnormality of the ovary, Neoplasm of the oral cavity, Abnormality of the lymph nodes, Decreased ... ORPHA:543
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Failure to thrive, Splenomegaly OMIM:228000
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Thrombocytopenia, ... ORPHA:69077
Perrault Syndrome 4
Cubitus valgus, Increased circulating gonadotropin level, Oligomenorrhea, Hypoplasia of the uteru... OMIM:615300
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Iron deficiency anemia, Intestinal bleeding, Osteoma, Desmoid tumors, Adenomatous colonic polypos... ORPHA:261584
Fanconi Anemia, Complementation Group N
Medulloblastoma, Nephroblastoma, Aplastic anemia, Neuroblastoma OMIM:610832
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:179494
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia OMIM:301015
Propionic Acidemia
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:606054
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Thrombocytopenia, Neutropenia, Megaloblastic anemia OMIM:277380
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Aromatase Deficiency
Cryptorchidism, Genu valgum, Hypergonadotropic hypogonadism, Hepatic steatosis, Primary amenorrhe... ORPHA:91
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Abnormal natural killer cell count, Pa... ORPHA:79124
Pyropoikilocytosis, Hereditary
Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis OMIM:266140
Hemochromatosis, Type 3
Cirrhosis, Elevated hepatic transaminase, Amenorrhea, Lymphopenia, Impotence, Neutropenia, Hyperp... OMIM:604250
Reticular Dysgenesis
Abnormality of neutrophils, Aplasia/Hypoplasia of the thymus, Weight loss, Anemia, Leukopenia, Fa... ORPHA:33355
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity OMIM:613990
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Nasu-Hakola Disease
Acute leukemia ORPHA:2770
Fanconi Anemia, Complementation Group E
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:600901
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Abnormality of the peritoneum, Weight l... ORPHA:83469
Diencephalic Syndrome
Long penis, Abnormality of the hypothalamus-pituitary axis, Large hands, Hydrocephalus, Neoplasm ... ORPHA:1672
Thymoma
Hemolytic anemia, Abnormal lymphocyte morphology, Neoplasm of the thymus, Pancytopenia, B lymphoc... ORPHA:99867
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Fat malabsorption, Protein-losing enteropathy, Pancreatic cysts, Per... ORPHA:731
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Ane... OMIM:618849
Methylcobalamin Deficiency Type Cble
Neutropenia, Pancytopenia, Increased mean corpuscular volume, Megaloblastic bone marrow, Macrocyt... ORPHA:2169
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Poikilocytosis, Anemia of inadequate production OMIM:300367
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hemangiomatosis, Anemia, Visceral angiomatosis ORPHA:2123
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Transaldolase Deficiency
Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:606003
Lesch-Nyhan Syndrome
Megaloblastic anemia, Dysphagia, Testicular atrophy OMIM:300322
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Obesity, Splenomegaly OMIM:605309
Fanconi Anemia, Complementation Group A
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:227650
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Finger clino... ORPHA:8
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Weight loss, Liver abscess, Abnormality of the pancreas, Anemia, Neut... ORPHA:54251
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia ORPHA:139436
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Kleeblattschaedel
Hydrocephalus OMIM:148800
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Anemia OMIM:607426
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Anemia of inadequate production OMIM:224100
Sandhoff Disease
Hepatomegaly, Failure to thrive, Splenomegaly ORPHA:796
Mastocytosis
Chronic leukemia, Hepatomegaly, Sarcoma, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Hydrocephalus OMIM:601794
Fanconi Anemia, Complementation Group C
Cryptorchidism, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Small for gestati... OMIM:227645
Waldenström Macroglobulinemia
Abnormality of neutrophils, Normocytic anemia, Hepatomegaly, Lymphoma, Splenomegaly, Leukemia, Mo... ORPHA:33226
Polycythemia Vera
Myelodysplasia, Weight loss, Hepatomegaly, Splenomegaly, Portal hypertension, Acute leukemia ORPHA:729
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Folate Malabsorption, Hereditary
Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia OMIM:229050
Gamma-Heavy Chain Disease
Abnormality of bone marrow cell morphology, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... ORPHA:100026
Fechtner syndrome